Blog Posts

Eric Dube Ph.D. of Retrophin

30/6/2020

Eric Dube Ph.D., understands the fear and uncertainty that can come with a rare disease diagnosis, and it is this personal insight and understanding that he brings to the role of CEO of Retrophin. He talks to RARE Revolution about the unique contribution the rare disease patient makes, and about his company's mission to support diversity and ensure all patients have the same access to information, clinical trials and treatments

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically Retrophin and what did that journey look like?

I’ve had the opportunity to work in a number of therapeutic areas including oncology and respiratory with some exposure to rare disease in both, and I have found my mission in rare disease.

Earlier in my life, I was diagnosed with two rare cancers that had no approved therapies. Fortunately, the cancers were caught early, but I felt the fear of not having a treatment. This gave me an understanding of this industry’s purpose.

It also took me a long time to feel comfortable being my authentic self, so I show up to work as real as possible and encourage others to do the same. Part of my authentic self is a driving desire to help patients and their families—this is one of the many reasons why Retrophin is such a good fit.

Our culture is founded on Our Why which strives to connect each person’s purpose for being in this industry, with our company mission of delivering treatments to people living with rare disease. Importantly, it enables me to discuss at every level of our organisation the impact our decisions and actions have on patients.

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

I believe that one of our biggest challenges is also one of our greatest opportunities. At Retrophin, many of our employees, including myself, come to work each day because we are rare disease patients, survivors, caregivers or have in some way been touched by rare disease. This gives us a unique insight into the needs of patients within our communities. One of the challenges that we have identified is the lack of equitable access to information, clinical trials, diagnosis and treatments for diverse patients in the rare community.

This is also where our opportunity lies. We are advancing Phase 3 clinical programs for rare kidney diseases that affect a high proportion of Black, Latinx and Asian patients. As we continue our efforts to understand every patient’s journey and build upon our efforts to have our organisation reflect our patients, we have an exciting opportunity to not only raise awareness of these inequities, but also provide improved access to information and medications, if successful.

We will also take the opportunity to build momentum behind collaborations that champion diversity and inclusion in our broader industry, so that all patient voices can be heard.

3.	What is your proudest moment in your career thus far?

Earlier in my career, I moved from the US to my first international assignment in Japan. I had to quickly learn the language, culture, marketplace and diagnose the reasons for performance gaps for a declining business. After facing early failures, I had to reset my expectations and what I thought it took for business success and learn from the ground up. After suspending my judgement about work culture and customer insights from the US, and spending countless hours learning Japanese, I helped lead the organisation to one of the most successful launches in the company.

However, my proudest career moment to-date has been taking the opportunity to lead Retrophin into its next phase of growth. We have an incredibly strong organisation with a deep, purpose-driven culture. We are set apart by our unique understanding of the patients we strive to help each day, and by the way we collaborate with the rare disease community to make decisions.

Joining advocacy leaders from IgA Nephropathy Foundation of America, International Cystinuria Foundation, and NephCure Kidney International in Washington, D.C., for Rare Disease Week on Capitol Hil

4.	What and who are your personal and professional inspirations and why?

I continue to be inspired by my grandparents. They taught me so much about the importance of education, giving back to your community, and embracing the differences of others. Much of who I am as a person and as a leader is a reflection of how they helped to raise me. My grandmother is also one of the funniest people I know, so I am always reminded to laugh.

5.	What advice would you give someone considering working in the rare disease space?

My advice is, actively seek out and listen to patients, and make sure you have a strong sense of resilience. Often, there is no clear path laid for drug development, clinical trial design, or reaching the patients who might be affected. Working in rare disease very much echoes the uncertain path that many rare disease families are on. There are few answers and many uncharted paths. It requires persistence, patience, and a tremendous amount of hope.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

There has been progress at the federal level that will make a difference for rare patients. The 21st Century Cures Act, Advancing American Kidney Health Executive Order, the CARES Act, public-private research collaborations, proposals to provide a caregiver tax credit, and expansion and standardisation of newborn screening are steps in the right direction. We must continue to work with policymakers to improve access to care for all people facing rare disease, and to dissolve the systemic health disparities faced by diverse populations in the US. The COVID-19 pandemic has made it even harder for rare patients and caregivers. While we can be cautiously optimistic about some legislative changes, we will not pause in advocating for our patients and their caregivers. There is so much work to be done on a policy level to ease the diagnostic journey for rare patients, to advance treatments for rare diseases and to improve access to care.

7.	What would you say are some of the biggest motivators for your employees?

Retrophin team members get excited and find great purpose when people living with rare disease come to our office and talk to us about their experience and share their incomparable insight and expertise.

Rare disease advocates from NGLY1.org, National Center for Advancing Translational Sciences, and R&D team members from Retrophin

Grace Whiting of National Alliance for Caregiving with Lillie and Carrie Enicke, rare kidney disease advocates, showing their stripes on Rare Disease Day 2019 at Retrophin

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

One of the toughest parts of being a CEO is dealing with a setback when it means that a treatment may not get to a patient community with significant unmet needs. Last year, our lead development candidate for a severe rare disease with no approved treatment unfortunately did not meet its expectations in a clinical trial. Making the exceptionally difficult decision to discontinue further development was one of the toughest things we have had to do as an organisation, as it meant we could no longer offer hope of a treatment for this community.

I believe great cultures are best understood in the face of failure or setback. I believe our organisation went above and beyond to further support these families and contribute to the understanding of this disease. This included setting a plan to donate the full Phase 3 dataset to academic experts in the hopes of improving the probability of success for other medicines in development for this condition.

9.	What would be your one wish for Retrophin for the year ahead?

My hope is that we can work swiftly to advance treatments for patients living with rare kidney and liver diseases. And that we can help bridge the gap for those who need support and treatment but may not have the access they deserve.

Marc Coronel at Retrophin sharing his experience living with rare kidney disease

Dana Perella, founder of Cookies4Cures, visits Retrophin at Thanksgiving 2019

10.

If you weren’t CEO of Retrophin what was Plan B? What did your 10-year-old self, want to do as a job?

One of my passions is learning and personal growth. Years ago, I wanted to be a professor with a focus on developmental psychology, and the resilience of marginalised communities. My upbringing instilled in me the value of making a difference in society.

To find out more about the work of Retrophin, visit;
www.retrophin.com

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Thomas Ogorka of Orphan Reach

26/6/2020

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Nearly a decade on from when he first founded the CRO Orphan Reach, CEO Thomas Ogorka, recognised the opportunities in orphan product development and made this his company's mission from then on. He talks to RARE Revolution about the challenges faced in developing new products and how supporting rare disease patients is a huge motivator for him and his team

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically go on to found Orphan Reach and what did that journey look like?

I set up QED Clinical Services back in 2002 as a functional CRO before it was later rebranded to Orphan Reach. From 2011 we noticed that clinical trials were coming in that had not been taken care of very well. When more of these so-called rescue projects came our way, we thought this is not a comfortable situation neither the sponsor nor the patient should find themselves in. Taking over a clinical study in mid-swing from another CRO service provider usually means delays to the study with a cost impact for the company, and other potential downsides, particularly for patients who just don’t have the time to wait. All these rescue projects involved rare disease indications where conventional CROs found it difficult to cope.

We then carefully analysed the gaps, looked at the market and concluded that there was an opportunity for us to make orphan product development our mission from then on. At that point already, around 90% of our trials took place in orphan indications, so it was not too much of a stretch for us to go all the way. However, with no additional investment on board and having to finance our growth using our own means, our journey to where we are today took longer than anticipated.

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

We need to be making sure that we adapt to the ever-increasing demands, regulations, data protection rules, etc. for clinical trials which can potentially all have a negative impact on the speed of which new products can be developed and then made available to patients in need.

On the other hand, we are learning on a daily basis and can implement changes, answering with adequate solutions quickly as long as we are staying as dynamic as we are now. There is a great source of talent out there who want to join companies with more than just business in mind. Being able to support unmet medical needs, to visualize the affected patients and how we can help our clients to bring new therapies to them is a great motivator.

3.	What is your proudest moment in your career thus far?

When we had our Christmas event with the team at the end of last year, giving a presentation, I realised how much we had grown and what wonderful people we have on board. Maybe this moment now comes more to mind as we have not met each other for some time due to the restrictions currently in place. I do really miss the face to face contact.

4.	What and who are your personal and professional inspirations and why?

Professionally I am very much driven by my curiosity and desire to improve things where I believe they can make a difference to someone. Also, I do believe in Karma and that whatever good you do in this world will eventually come back to you.
On a personal note, my father always inspired me as in his tough job as a police officer he made sure that the streets were safe and that people in need received the help they needed. The ability to help those in need is something I’ve strived to emulate in my own life, especially through Orphan Reach.

5.	What advice would you give someone considering working in the rare disease space?

Expect the unexpected! We know that clinical trials can be extremely complex involving a lot of different stakeholders who are all working towards one goal: to provide effective therapies to patients with rare diseases. So, if you enter the world of rare diseases, be open to surprises and prepare for a lot of lessons to be learned. As long as you are prepared to learn and adapt, you will feel at home.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

There should be earlier and more frequent interactions between regulatory agencies and drug developers including scientific and ethical considerations of clinicians and the patient community. This could help to accelerate the design of non-clinical and clinical programs.

We have seen conditional marketing approvals in the past, but this route should be made broader, so that more drugs with an established safety profile can be conditionally approved to reach patients with rare and rapidly progressing conditions. Patients could benefit from new drugs sooner while post-approval safety and efficacy monitoring will continue to provide the required data.

7.	What would you say are some of the biggest motivators for your employees?

Our employees find their biggest motivation in team collaboration, achieving deadlines and celebrating their achievement together. This all happens on the understanding that patients with rare diseases are much more visible and everyone working at Orphan Reach knows what sometimes is easy to forget: behind the data that we collect to test new therapies are personal destinies, very often children, with little or no hope. If we all work a bit harder, we may help save lives or make life easier for patients and their families.

Nazira Maruf (Our Director of Clinical Operations), Georgia Rose (Marketing Manager) and Thomas at the World Orphan Drug Congress in Barcelona last November.

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

Orphan Reach is a service provider, and as a team we are only as good as our weakest link. It is sometimes tough to say goodbye to someone who we get on with very well, but who may not be the right fit for us.

On the other side it’s great to see team members thriving in their roles and to see them reaching their full potential is a very rewarding feeling.

9.	What would be your one wish for Orphan Reach for the year ahead?

I am sure that I am not the only one wishing that we will hopefully find effective treatments and vaccines for COVID-19, and soon. We have done amazingly well during this crisis but naturally also needed to find workarounds to make things happen in this different world. Once we can manage COVID-19 properly, I can see us working with more innovative biotech companies and serving more patients with devastating diseases and their families, supporting them.

10.

If you weren’t CEO of Orphan Reach, what was Plan B? What did your 10-year-old-self want to do as a job?

I would probably have become a music producer, as firstly I like music and secondly, I like to create something out of nothing. For me seeing the parts coming together one by one, arriving at something which sounds beautiful, fills me with joy and happiness.

To find out more about the work of Orphan Reach please visit;
www.orphan-reach.com

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Jamie O'Hara of HCD Economics

15/6/2020

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Jamie O'Hara founded HCD Economics to combine his career ambitions with his passion for advocacy. He talks to RARE Revolution about the importance of evidence based advocacy in ensuring all rare disease patients have access to the appropriate healthcare, and his drive to establish equity in the healthcare system

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically HCD Economics and what did that journey look like?

My professional background is in life sciences and health economics. Early on in my career I worked on economic evaluations in areas such as diabetes, rheumatoid arthritis and psoriasis. Looking into the pipelines and evidence generation for haemophilia, it quickly became apparent that the real-world insight into the burden and unmet need was poorly studied and quantified and there was very important work to be done in haemophilia and also in other rare diseases. Consequently, evidence-based advocacy for access to improved medical care in rare diseases required focus and investment.

I am also a severe haemophilia A patient, and am committed to evidence-based advocacy, specifically in support of access to medicines and healthcare provision for patients, like me, who have rare diseases. I set up HCD Economics, eight years ago, so I could dedicate my career ambitions with my advocacy ambitions. We have grown to be a multi-disciplinary Real-World Evidence (RWE) team of 36 excellent colleagues, working across a number of rare diseases, engaged in dozens of types of RWE research and consultancy assignments.

Jamie O’Hara delivering a presentation at the world federation of haemophilia conference in 2018

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

I am passionate to have the opportunity to be involved in establishing equitable healthcare access.
A large part of the cost to our healthcare systems is born out of failed public health policy and in many cases moral hazard. There is a real opportunity to reassert the difference between equity and equality.
All too often rare disease patients are denied appropriate access to health resources due to the confusion between the two concepts.
The challenge is that budgets supporting evidence-based advocacy in the rare disease space will be further constrained moving forward, there is a real risk that rare diseases patients could suffer.

Equality and Equity often get confused, but you can see they are actually two very different things.
Photo: Interaction Institute for Social Change | Artist: Angus Maguire interactioninstitute.org and madewithangus.com

3.	What is your proudest moment in your career thus far?

Aside from this interview… I have enjoyed watching HCD Economics grow, and mentoring staff members who often come to us as graduates, to develop and grow into balanced and respected senior consultants who are able to lead on complex projects and support the communities in which we work.

4.	What and who are your personal and professional inspirations and why?

Personal inspiration: my wife and children who have been very supportive during what has been an intense period of development and growth of HCD Economics.
Professional inspiration: I’ve had the pleasure of working with many top-level professionals, from whom I always try to learn to develop a composite of professional principles. These include lecturers from university, previous managers, and patient community leaders and of course the great team I work with day to day at HCD (and Steven Gerrard).

5.	What advice would you give someone considering working in the rare disease space?

Understand that this area works differently from more common diseases, there just isn’t the same evidence and knowledge via the same conventional pathways in rare disease
To properly serve the rare disease communities there needs to be a much more targeted approach to fully understand the complexities of each individual rare disease
Take a more pragmatic approach to truly understand the unmet need and burden of a rare disease as conventional research approaches may leave the story only half told.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

It’s clear that for many therapy areas things have improved, however there is still evidently room for improvement.
Health Technology Assessment (HTA)—which is the main point of access into a system for drugs to be accessed by patients, is currently a very rigid framework that doesn’t necessarily fit alongside rare disease complexities. Often rare diseases are life-long which can result in the emergence of a disability paradox. In effect patients and caregivers don’t know of a different reality and are unable to give an objective assessment on the impact of the condition. This is a problem particularly in the UK where we use Quality Adjusted Life Years (QALYs) which can significantly undervalue the benefit of an intervention because of the described paradox.
It would be great to see initiatives that more explicitly utilise Multiple-criteria decision analysis (MCDA) to incorporate rarity/equity paradox.

Jamie O’Hara presenting to patients at the Haemophilia Society conference in 2019, explaining about the disability paradox—the concept that patients with haemophilia perceive their quality of life to be better than externally is it

7.	What would you say are some of the biggest motivators for your employees?

Aside from the monthly pay check….
Working in a research consultancy and having a close relationship with many charities/patient advocacy groups makes the job emotionally as well as professionally rewarding. Each colleague gets to see up close, the impact our research has on these underserved communities.
The technical challenge and the workload are intellectually stimulating (Burden of Illness, time trade off methodology, various technical analysis, discrete choice experiments etc).

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

It never stops but I wouldn’t have it any other way.
The team and the collaborators (University of Chester, Patient representatives and clients), have been based on fun productive solid relationships, as in any business nothing is perfectly smooth, but for the best part it’s a lot of fun and I’ve made many friends along the way.

9.	What would be your one wish for HCD Economics for the year ahead?

For all the staff to be able to get together before the end of the year and enjoy one of our team building days, a nice activity and a curry and beer afterwards.

HCD Economics team on a white water rafting away day

HCD Economics team enjoying a team building afternoon in the North Wales countryside

10.

If you weren’t CEO of HCD Economics, what was Plan B? What did your 10-year-old self-want to do as a job?

The plan B was to be a university professor in economics and my 10-year-old self-wanted to be a footballer at Liverpool Football Club.

To find out more about the work of HCD Economics please visit;
www.hcdeconomics.com

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Rob Long of Uplifting Athletes

3/6/2020

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Having received life-saving treatment himself, for a rare form of brain cancer, Rob Long very much sees his position as CEO of Uplifting Athletes, as paying it forward to the RARE disease world. He talks to RARE Revolution about the incredible opportunities for research his organisation provide and the challenges, and indeed possibilities, the current worldwide pandemic is offering

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically Uplifting Athletes and what did that journey look like?

Like many of us, I was unwittingly thrust into the wide world of rare disease with my diagnosis. In December 2010, I was diagnosed with a rare aggressive form of brain cancer. My MRI revealed a mass nearly the size of a tennis ball. My teammates on the Syracuse University football team rallied in support of me and established the Syracuse University Chapter of Uplifting Athletes in my honour. After almost a year and a half of treatment, I had my first clean MRI. In that time, I had become fully involved in supporting the Syracuse Chapter of Uplifting Athletes. In 2016, I reached out to our Founder Scott Shirley and he provided me with an opportunity to join the Uplifting Athletes organisation full-time. In October 2018, I was selected as the next Executive Director of Uplifting Athletes.

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

It’s amazing how quickly things change. The challenge that we are facing now is how effectively we can pivot from cornerstone fundraising events, and their reliable revenue, being cancelled to establish a new way to engage our audience and donors. We were on a tremendous growth trajectory when the COVID-19 pandemic hit and we would like to find a way to maintain that.

I also believe that these challenges provide opportunities to explore and try things that we may have not otherwise attempted to do. We have been forced out of our comfort zone as an organisation and it is inspiring some new creative ideas that will stick around long after the pandemic passes.

Davidson college Lift for Life fundraiser, raising over $12.k

3.	What is your proudest moment in your career thus far?

Every day is really rewarding for me. I truly love what I do and know that I am in a position to have a positive impact on other human lives and I am so fortunate to have that opportunity. One of the highlights for me has been watching the evolution of our Young Investigator Draft initiative that elevates, and funds, up and coming researchers in the rare disease space. In May, we received word that one of the researchers that was selected through the Young Investigator Draft, Dr. David Fajgenbaum and his team, had used funding from our grant to discover parallels in the body’s immune response in Castleman Disease and COVID-19. I was so proud to be able to support timely and impactful work. It was also proof of that by funding rare disease research, the discoveries that we make translate in so many ways for those affected by more common diseases.

The 2019 Young Investigator Draft, grant recipients
A hugely successful initiative to support up and coming researchers

4.	What and who are your personal and professional inspirations and why?

There are a lot of people who have helped me tremendously along the way. One of the people that we work with here at Uplifting Athletes is John Trzeciak. John is a volunteer business advisor for us and has been a mentor from a business standpoint. Jean Campbell on the rare disease side has been a mentor with engaging the rare disease community. Jean is a 30-plus year veteran of the rare disease space and has worked with NORD and several advocacy organisations. Personally, I have countless people that have shaped the person I have become but it all started with my parents. I am lucky to have had their guidance and support from day one.

5.	What advice would you give someone considering working in the rare disease space?

Do it. Simply put this community is incredible. I have met more uplifting and inspirational people in just a couple of years than most people have the chance to meet in a lifetime. The motivation for progress is constant and the opportunity to have an impact is endless.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

I do believe that the government has supported and driven progress in the rare disease community. If you are asking if it is enough? I don’t think we can do enough until we find therapies and cures for the more than 95% of rare diseases that do not have an FDA approved treatment. They are doing something, but I think there is always the desire for more until we can help all those affected by rare diseases.

7.	What would you say are some of the biggest motivators for your employees?

The biggest motivators are seeing the results of the work that we do. Whether it is getting a chance to empower an athlete with the knowledge of how they can support the rare disease community, meeting the researchers who we are fortunate to fund, or seeing the look on a patients face when they get to visit their favourite NFL team, it is the people that motivate them.

NFL Seattle Seahawks' wide received Malik Turner
The Uplifting Experience initiative launched in 2018

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

The toughest decision is to stay completely focused and committed to our mission and strategy so that we can use our core competencies as an organisation to provide the biggest benefit to the rare disease community as a whole. It is hard to not jump at opportunities as they arise, but we need to stick to the plan and process that we have developed. Unfortunately, that means not always being able to help everyone all the time which can be frustrating.

The most rewarding part is that I am a product of the research that we aim to support through the Young Investigator Draft. I am alive today because of the time, resources and money that were directed at finding a therapy years before I was ever diagnosed. I won’t be able to meet all the people that made that research possible, but I can wake up every day and pay it forward in hopes of having a similar impact one day in the future.

9.	What would be your one wish for Uplifting Athletes for the year ahead?

With all the uncertainty amid the global pandemic, my wish is that Uplifting Athletes can remain on its growth trajectory that we were on prior to the global pandemic. I think this organisation has so much potential to have a significant and lasting impact on the Rare Disease Community.

10.

If you weren’t CEO of Uplifting Athletes, what was Plan B? What did your 10-year-old self want to do as a job?

As much as I would never change my past because it has shaped the person that I am today, I would have loved the opportunity to have played in the NFL just for the experience of it. I came so close, but the timing of my diagnosis couldn’t have been worse for my prospects of becoming a professional athlete.

To find out more about the work of Uplifting Athletes please visit;
www.upliftingathletes.org

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Toni Mathieson of Niemann-Pick UK

1/6/2020

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Toni Mathieson's relationship with Niemann-Pick UK (NPUK) began in 2003, in a very personal capacity, before she joined as CEO two years later. It is her initial experience with the charity and the incredible support she received that she draws on now in her professional role. A dedicated advocate for Niemann-Pick diseases both in the UK and internationally, and for lysosomal storage disorders, she talks to RARE Revolution about the challenges charities such as NPUK are facing and her hopes for the future

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease and genetics, and then specifically the charity Niemann-Pick UK and what did that journey look like?

Like many patient advocates, I came into the field of rare diseases through personal experience. Our first daughter, Lucy was diagnosed with Niemann-Pick type C in 2003 at just five weeks old, and life was forever changed. A short time later I left my career in human resources and became immersed in all things rare.

Niemann-Pick UK (NPUK) provided much needed support during those difficult first few months and in the following years when Lucy’s brother and sister were also diagnosed, and passed away, from the same condition. In fact, without the support and friendship I have received from this community, I am not sure where I would be today.

I joined NPUK professionally when Lucy was two years old, bringing not just professional skills, but also a true understanding of the challenges faced by patients and their families.
We lost Lucy in 2007, at just four and a half years old. My time and experience with my children and as part of the Niemann-Pick community, gave me the resolve to continue my work and to try to make a difference for others affected by rare diseases.

As well as my ‘day job’, I represent NPUK in their collaborative work with UK and International institutions, like-minded patient groups and industry. I am honoured to be the UK representative for the International Niemann-Pick Disease Alliance, a network of 21 patient groups in 17 countries. As a Trustee of the International Niemann-Pick Disease Registry (INPDR), I am committed to supporting the development of this innovative, patient-empowered registry model.

I am grateful to have the opportunity to work with the CEO’s of seven other UK patient organisations as Chair of the UK LSD Collaborative. Together we support and advocate on behalf of patients and families affected by 30+ lysosomal storage disorders. This incredibly supportive network has benefitted my own professional development and I now volunteer my time to support other patient groups in reaching the next stage of their own journey.

Toni with her beautiful daughter, Lucy, who along with her other two children, remain her inspiration and driving force

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

One of the greatest challenges for us all at present is the uncertain political landscape and the accompanying potential implications for research, access to therapies and collaborative working. Add to that reduced social and welfare services, a changing benefit system and a lack of respite care, and the needs of our patient community have never been greater.

Patient organisations like ours are facing unprecedented challenges to their future sustainability at a time when demand for our services has never been higher. Grant and funding opportunities are narrowing and this trend is set to continue. This offers the opportunity to consider closer collaboration and ways in which we could maximise the scarce expertise and resources that exist in this field.

3.	What is your proudest moment in your career thus far?

Our Annual Family Conference & Interactive Workshop is the highlight of our year, bringing together patients, families and professionals from the UK and across the world. This is the largest event focussed on Niemann-Pick disease in Europe, having grown from just a few families getting together almost 30 years ago.

My proudest moments are looking around the room at these events, seeing everyone together, greeting old friends, making new ones, sharing their stories, forming new networks, supporting each other. I feel proud of what we have created and of the sense of community we offer, which is underpinned by the warmth of the interactions between patients and families and the lasting friendships that stem from these.

Toni, with her mum Val and John Lee Taggart, Communications and campaigns manager, at the Annual family conference 2017

Toni speaking at the Annual family conference in 2018, with NPUK Chair, Will Evans looking on

4.	What and who are your personal and professional inspirations and why?

My children will always be the inspiration behind my work; on tough days, their memories keep me going.

I feel privileged to be a part of the Niemann-Pick community, to share their stories and follow their journeys. I never fail to be inspired by their bravery as we walk together from diagnosis, and too many times through bereavement, and beyond. We still have a long journey ahead, but we will make it together, one step at a time.

Professionally, the tireless dedication of my counterparts within the LSD Collaborative and wider rare disease field, whose friendship, understanding and support has been second to none.

5.	What advice would you give someone considering working in the rare disease and genomic space?

I would say that working in this field is not your usual nine to five, as a CEO of a small organisation you wear many hats and there is always something new to learn. Take time to truly understand the views and needs of the community you support, and to recognise that these can change over time. This field is highly rewarding and incredibly inspiring, but be prepared, as it can also be emotionally challenging.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

Raising interest and understanding of the challenges faced by rare disease patients, and gaining wider support, is a priority. At a local level, with changes and cuts to services and the welfare system, the scale of financial, social and emotional issues in rare communities is increasing. The Coronavirus pandemic has brought new and unexpected challenges, highlighting the desperate need for effectively resourced and consistent services.

I would like to see greater recognition for patient organisations, as professionals and experts in their specific condition. With our community knowledge and connections, we are best placed to influence the care and services available to our communities and can play a major role in the development of therapies by working to positively influence research, clinical trials and regulation.

The slow speed of research and trials, coupled with the issue of access to new and innovative therapies is a huge frustration. It is one of the many common challenges shared by rare disease families, including delayed diagnosis, a lack of local services and difficulty accessing respite care. This is an area where the unique experience of patient advocacy leaders could have a significant impact. By working together and in consultation with our communities, industry and NHSE, we could influence the processes involved and improve experience and outcomes for patients.

7.	What would you say are some of the biggest motivators for your employees and volunteers?

Working with and being part of our community. I am constantly amazed by the effort, drive and determination of our staff team, a truly dedicated and compassionate bunch who go and above and beyond for our patients and their families. Many of our volunteers have been with us longer than I have, providing amazing support to our community year after year at events and much more. They are an important and greatly valued part of our team.

Our Board of Trustees is highly active and passionate about their work. Many have family members or friends directly affected by Niemann-Pick diseases, bringing a true understanding of the impact it can have upon a patient and their family.

The NPUK team in 2017

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

The toughest part is not having all of the answers. I vividly remember my first conversation with Niemann-Pick UK as a parent. I remember the desperate need for answers and the fear of what the future might hold. I wanted to know what treatments were available, what was being done to find a cure, or to prevent this disease in the future. Although there were no easy answers, I was left with a sense of hope and the feeling that we were no longer alone in coping with this rare condition.

I hold these thoughts in my mind when I speak with families today. Being able to relieve anxiety and to provide a sense of community would be most rewarding and I hope we achieve this, even in a small way.

9.	What would be your one wish for Niemann-Pick UK for the year ahead?

My one wish would be to see the unmet medical needs of our community addressed. Although I accept that this might take more than a year!
Continuing our work to influence and inform trial design and therapy development, plus support of the International Niemann-Pick Disease Registry (INPDR), will hopefully bring us closer to this goal.

10.

If you weren’t CEO of Niemann-Pick UK what was Plan B? What did your 10-year-old self-want to do as a job?

I have no Plan B, I hope that once my time as CEO of NPUK is up, I will be able to support this organisation and its inspiring community in other ways. My ten-year-old self wanted to be a midwife, a profession I continue to have great admiration for following the challenging circumstances we faced with our children and the sensitive and compassionate way in which we were supported.

To find out more about the work of Niemann-Pick UK please visit
www.npuk.org

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Tim Guilliams of Healx

4/5/2020

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With a deep-rooted mission to help rare disease patients, social entrepreneur Tim Guilliams, co-founded health technology company, Healx and Cambridge based charity CRDN. He discusses his ambitions for the future for Healx and how a patient-centric approach and collaboration with patients and charities is key to driving research

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically Healx and what did that journey look like?

I have always been passionate about using artificial intelligence (AI) and machine learning to find treatments for rare diseases. In addition to my role at Healx, I’m also the Founding Director and Trustee of the Cambridge Rare Disease Network (CRDN), a charity that promotes awareness of rare diseases.

I founded Healx in 2014 alongside Dr David Brown, the co-inventor of Viagra and former Global Head of Drug Discovery at Roche. Following a meeting with a rare disease parent, Nick Sireau, who was relentlessly trying to repurpose a drug called nitisinone to save his children from the ultra-rare disease, alkaptonuria (AKU), we realised how big the therapeutic unmet need was.

Rare disease patients have long been side-lined by the pharmaceutical industry who struggle to justify investment in treatments for smaller populations. At Healx, however, we believe that every disease patient deserves a treatment. This belief helps us to think big. We don’t intend to go after just one disease, we have created a platform that will help us impact 100 rare diseases by 2025.

We’ve since made it our mission to help rare disease patients access life-saving treatments. The first step towards making rare disease drug discovery a faster and more efficient process was to develop Healnet, the most comprehensive AI platform currently out there for the prediction of rare disease treatments.

What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

I’d say that the biggest challenge—and also opportunity—for Healx over the next couple of years is really that of scaling up our operations to achieve our goal of translating 100 rare disease treatments towards the clinic by 2025.

We’ve had a number of successes so far in terms of showing that our drug predictions are effective at preclinical trial stage and we are very excited to be taking one such drug prediction project, for fragile X syndrome, to clinical trial stage later this year. Watch this space!

To help achieve our goal of taking 100 treatments towards the clinic, whilst keeping patients firmly at the heart of the process, we recently launched our Rare Treatment Accelerator—a global partnering programme that gives patient groups and Healx the opportunity to work together to quickly progress new rare disease treatments.

We have committed a total of $20 million in AI and drug discovery resources over the next two years towards finding new treatments. Following the close of a successful first call we’re looking forward to sharing more details of these partnerships and project progress in the coming months. In the meantime we’re inviting patient groups interested in applying for the next call to register their interest online: https://healx.io/rare-treatment-accelerator-registration/

3.	What has been your proudest moment in your career thus far?

The moment when we received positive results back from our fragile X syndrome preclinical trials showing that the treatments our AI-powered platform had predicted actually worked. That was a really special moment for all of us here at Healx.

We already knew that our technology worked and could accurately predict drugs to be repurposed to treat rare diseases, but to have them validated at preclinical stage—and for others to be able to see the efficacy of what we’re doing—was a fantastic feeling.

As an added bonus it’s great that we’ve been able to get from predication stage to clinical trial phase in such a short amount of time—just 24 months.

The launch of our Rare Treatment Accelerator programme was also a very special moment for me. What made this all the more special though was the overwhelmingly positive response the programme sparked from rare disease patient groups worldwide—in terms of both the volume of applications and positive feedback we received.

4.	What and who are your personal and professional inspirations and why?

Ever since I can remember, I’ve had a huge passion for transforming the lives of rare disease patients—even outside my work. This is what prompted me to co-found the Cambridge Rare Disease Network (CRDN).

And even today, what still drives me in everything I do here at Healx is my dedication to making a difference to the lives of rare disease patients. That’s a very personal mission for me.

There have been a number of people along this journey that have really inspired me to push forward and achieve as much as I can for rare disease patients—and certainly too many to be able to name each and every one of them here!

5.	What advice would you give someone considering working in the rare disease space?

The best advice I could give is to collaborate and work as closely as possible with rare disease patients and charities—they are the real rare disease experts, after all.

When I think back across all the projects we’ve worked on at Healx, none of the successes we’ve enjoyed would have been possible without the support of exceptional patient groups, such as FRAXA Research Foundation, the Pitt Hopkins Research Foundation (PHRF) and aPODD, amongst others.

From the very beginning we felt that forming partnerships with patient groups was the right thing to do. As well as being experts in understanding rare disease symptomology, they are also usually the most determined partner in driving treatments forward. Involving them from the outset closes the discovery research loop earlier.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

There’s always more that can be done to help the rare disease community—on both a national and local level. But, unfortunately, a lot of it comes down to funding.

That said, there are some great initiatives in the UK. Take the 100,000 Genomes Project as an example which was set up to sequence genomes from patients affected by rare diseases and cancer.

The Centres of Excellence for rare diseases are also a great initiative for those patients who are lucky enough to have one. However, I feel we could do with more support to develop these Centres of Excellence. It would also be great to see more local rare disease networks set up to support families and patients across the country.

7.	What would you say are some of the biggest motivators for your employees?

At Healx our belief that every rare disease patient deserves treatment is what drives us. Finding new treatment options for patients who currently have none is what gets us up in the morning and excited to come into work each day.

It’s also this patient-centric outlook that keeps us focused as a company and working together to achieve our mission—despite any setbacks. No one said finding treatments for rare diseases would be an easy task, but making sure our mission is always front of mind certainly helps put each success and failure we encounter along the way into perspective.

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

By far the toughest part of being a CEO is having to turn away patients and charities that would like to partner with us. We wish we were able to work on every single rare disease, but however much we want to, we can’t. This is particularly the case for the time being as we refine our processes and drug prediction capabilities ahead of scaling up our operations.

Because of this, we’ve had to be very selective with which diseases we choose to work on. But having to say no to these patient groups never gets any easier.

The decision on which patient groups’ disease projects to prioritise initially as part of the Rare Treatment Accelerator programme was a particularly tough one for us to make. That’s why we’re now working with those groups who weren’t selected this time round to offer them the information and resources needed to help identify and address areas for additional development ahead of applying again.

9.	What would be your one wish for Healx for the year ahead?

I am hopeful that the clinical trials we are running, in partnership with FRAXA Research Foundation, to test our predicted drug therapies are shown to have great effect. That would be amazing. More amazing still is that this would mean we were one step closer to giving fragile X patients a viable treatment option.

10.

If you weren’t CEO of Healx, what was Plan B? What did your 10-year-old-self want to do as a job?

Become an astronaut or an astro-physicist!

As for my plan B… I would probably have put my PhD in Biophysics to good use in another way by becoming an academic. Who knows, maybe I would have been able to inspire one of my students to set up their own company focused on helping rare disease patients find treatments.

To find out more about the work of Healx please visit
www.healx.io

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Mike Klein of Genomenon

4/5/2020

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With a wealth of experience in building and running information technology companies, Mike Klein brought his expertise into the rare disease world and in particular genomic medicine, when he joined Genomenon as CEO. He talks to RARE Revolution about the impact technology is having on diagnosing rare diseases and contributing to drug development, and about the exciting potential that lays ahead

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease and genetics, and then specifically Genomenon, and what did that journey look like?

Over the last 25 years, I have started and run a handful of software and IT companies. After I sold my last company, I was approached by the founders of Genomenon to lead the company as it was preparing to go to market with its first product. I was inspired by what Genomenon was doing in the field of genomics and the company’s mission in diagnosing and finding cures for disease, particularly rare disease.

Genomenon is the creator of the Mastermind Genomic Search Engine, which searches for and identifies all the genomic research related to any specific disease or set of symptoms. Mastermind covers the entire span of diseases, from rare diseases to inherited conditions to cancer. We have found our software often being used for making diagnosis and treatment decisions around patients suffering from rare diseases. Users like Rady Children’s Institute, Versiti, and Rare Genomics Institute have diagnosed previously unsolvable patient cases using Mastermind.

We also work with pharmaceutical companies that are developing new drugs for rare diseases to find disease-causing mutations (or variants) and guide candidate selection criteria for clinical trials. These pharma partners challenged us to develop a comprehensive database of the genomic drivers behind the rare diseases they were focused on—80% of which are genetically driven.

Several recent scientific studies have demonstrated that a thorough understanding of the genetic drivers of a disease and the drug pathway doubles the success rate for getting FDA approval of a drug. We deliver the needed genomic landscape of rare diseases, backed by the evidence from the medical literature, to pharma companies to increase their drug success rate.

We’ve also worked with rare disease foundations to kick-start the research around their disease by providing researchers with a genomic landscape of their disease, which is continuously updated as new discoveries are published.

What do you anticipate will be the biggest challenges and opportunities for your organisation in the next five years?

We’ve built the technology to interpret the entire human genome within the next five years, which is a huge and previously impossible task. With our insight into the broad expanse of medical knowledge, we can interpret what every gene and every variant means in the context of every rare disease. By putting this information at the fingertips of clinicians, we make rapid rare disease diagnosis both possible and practical. In the hands of researchers, we make it possible to understand the molecular drivers of these rare diseases for target identification and drug development.

What is your proudest moment in your career thus far?

With respect to Genomenon, our proudest moments are when we hear from clinicians how they diagnosed a patient using Mastermind that would have otherwise remained undiagnosed. We make it easy for clinicians to become experts in finding needles in a haystack. When it comes to diagnosing rare diseases, every genetic mutation is a needle buried by a mound of data and medical publications that are hard to organise and search. Mastermind finds every needle in every haystack.

Knowing that connecting a patient’s mutations to even a single research paper can make the difference in saving a life gives us the motivation to keep doing what we do best.

What and who are your personal and professional inspirations and why?

After building four other companies, I’m incredibly motivated to build a company that makes a difference in this world. We have an extraordinary opportunity at Genomenon to play a key role in saving babies and curing cancer by organising the world’s medical knowledge in a way that makes an impact. We’re on a mission to do just that.

What advice would you give someone considering working in the rare disease and genomic space?

Genomics will revolutionise medicine in a way we’ve never seen before. Twenty years from now, we will be amazed at how much we’ve learned and the impact genomic medicine has had over that timeframe. There couldn’t be a more exciting place to invest your career in.

Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

No-one who understands the potential of precision medicine will ever be satisfied with the pace of progress, but new discoveries are happening every day, which is very encouraging. The biggest opportunity lies in providing the widest access possible to those discoveries so they can be used to fuel treatments and cures. That’s what we have set out to do with Mastermind.

What would you say are some of the biggest motivators for your employees?

We were pretty fired up when Rare Genomics Institute (RGI) shared a case where an undiagnosed patient had their whole exome sequenced and analysed by a leading genetics laboratory. The lab was unable to find evidence on any clinically relevant genetic mutations that could provide a diagnosis. When Dr. Lipika Ray, a computational geneticist at RGI, re-analysed the patient’s DNA using Mastermind, she found a single research report that matched the patient’s DNA data. This finding led to the patient diagnosis and ended their long diagnostic odyssey.

It’s stories like these that get everyone on our team excited about the work we do every day and keep us looking forward to how we can change the world—one patient at a time.

Genomenon team meeting
Left to right; Steve Schwartz, Mike Klein, Mark J Kiel and Candace Chapman

What are the toughest parts of being a CEO, and conversely what are the most rewarding?

CEOs usually don’t get to make the easy decisions. Easy decisions can be delegated. The tough decisions come to the CEO to make—often when there is conflicting information and no clear answer. We have to make decisions with input from the team, but often in the face of several options and no consensus around a single clear answer.

The most rewarding part of being a CEO is seeing a team accomplish amazing things that truly make a difference in the world.

9.	What would be your one wish for Genomenon for the year ahead? To get our tools in every clinician’s and researcher’s hands so we can have a bigger impact on rare disease diagnosis and drug development.

10.

If you weren’t CEO of Genomenon what was Plan B? What did your 10-year-old self-want to do as a job?

When I was younger, I wanted to be an inventor and an entrepreneur. I’ve always been fascinated with creating new products and technologies and getting broad market adoption. If I wasn’t at Genomenon, I suppose I’d be running another company, although probably not as exciting as Genomenon or as impactful on people’s lives.

To find out more about the work of Genomenon please visit
www.genomenon.com

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Maria Picone of TREND Community

1/5/2020

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Motivated by her daughter's diagnosis of a rare disease, Maria Picone and her husband, drew on their extensive experience in clinical research and technology to found TREND Community. Using technology to harness data from social media they are turning anecdotes into real world data, to accelerate research into new treatments and to improve the quality of life for the rare disease community

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically in the founding of TREND Community and what did that journey look like?

My husband, Chris, and I were thrust into the world of rare disease when our daughter was born in 2012. After a perfectly normal pregnancy and almost normal delivery she arrived via emergency caesarean section. The moments and days following were confusing, emotional, and the most frightening of our lives. At 10 days she was diagnosed with Prader-Willi syndrome (PWS); that same day we were discharged from the hospital and took her home.

In our previous life (that screeched to a halt 10 days prior) we were entrepreneurs. We had started a digital health company together in 2007 building clinical trial platforms, registries, and other software for pharma, biotech companies, research organisations, and hospitals. The year before our daughter arrived, we also co-founded an analytics start-up with three other founders. Together, Chris and I accumulated nearly 20 years of experience in clinical research and technology which would serve us well in this new chapter of our lives.

TREND was inspired by our personal journey. Along with her diagnosis, our doctors delivered the terrible news that our daughter would have severe learning disabilities, battle obesity, and suffer her entire life from an insatiable hunger known as hyperphagia. We were devastated. I spent the next three months scouring the literature which only confirmed what the doctors had told us.

Then I joined a private Facebook group of other parents caring for children with PWS and guess what? These kids were thriving. There was an absence of approved drugs—their parents were experimenting with diet, supplements, and off-label and experimental drugs. Clearly some of it was working. So, Chris and I set out to use the technology we’d built for our clients to systematically collect the anecdotes from our new community in order to understand what was working, why was it working, and why some things were working for some kids but not for others.

2.	Maria with her husband, Chris What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

We quickly realised that collecting data the traditional way was hard, but we’d uncovered insights that would turn out to be life-changing for our daughter and for others too. What if we could just pull the data right out of the conversations we were having with one another on our private social network? The passing of the 21st Cures Act in 2016 highlighted FDA’s commitment to incorporate patient voices into medical product development and regulatory decision-making. This was just the motivation we needed to take a chance on our innovative idea. Along with our team, Chris and I began developing AI to analyse patient and caregiver conversations on social media to understand disease burden, what people were doing to manage their disease, and their unmet needs.

This new model has opened up a world of opportunities, but also presents many new challenges. In the next couple of years, I believe TREND data will play a key role in bringing more treatments to more patient communities. Our biggest challenge lies in navigating this grey space of unregulated mobile health research. We are following the evolving data protection and privacy regulations, consulting with domain experts such as lawyers and ethicists, and developing guiding principles and a governance structure to ensure that everything we do is for the good of our communities.

3.	What is your proudest moment in your career thus far?

Although this has turned into something so much bigger than our family, we began this journey to help our daughter. The knowledge we gained from analysing the social data from our own community and the work that has come out of that helped us to recognise that our daughter was experiencing symptoms of narcolepsy and cataplexy on top of PWS. Last summer she received a medical diagnosis of narcolepsy and now has treatment options that were not previously available to her. And now that she can manage her daytime sleepiness she is thriving in school. As her mom, every day I wake up thinking “How can I make her life even just a little easier?” I am so proud that the company and technology we have poured our hearts and souls into is already having such a meaningful impact on her life and the lives of others in desperate need of treatment options.

4.	What and who are your personal and professional inspirations and why?

I am personally inspired by the people I meet every day who are battling the unthinkable and do so with such bravery and determination to live better lives. There are so many. I couldn’t possibly pick just one.

Professionally, I am inspired by Dr. Janet Woodcock. Dr. Woodcock is the Director of the Center for Drug Evaluation and Research at FDA. She is also a vocal advocate for medical innovations that will benefit patients, especially those with unmet medical needs.

Maria interviewing Dr. Janet Woodcock

5.	What advice would you give someone considering working in the rare disease space?

It’s incredibly rewarding, but it’s also emotionally heavy. We tell this to everyone we hire. It’s important to have people to talk to, a shoulder to cry on. It’s not just a job. I think it inevitably becomes a mission for everyone.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

I am encouraged by what I see from my perspective. Although there’s a lot of red tape, there are also a lot of doors to knock on. There are people at FDA who truly want to improve the lives of patients. I think, however, that there is still a pretty big communication gap. There is the patient-focused side of FDA, tirelessly working to listen to as many patients and caregivers as possible and understand their needs. Then there are the reviewers who are responsible for approving new therapies. We must get everyone around the table to talk about what is possible so that sponsors can propose trial designs that both work for the patient and are acceptable to the agency.

7.	What would you say are some of the biggest motivators for your employees?

All of our employees are encouraged by the meaningful nature of the work they do. Interacting with patients and caregivers is a source of constant inspiration.

8.	What are the toughest parts of being a CEO within TREND, and conversely what are the most rewarding?

I think I’ve covered the most rewarding aspects of the job. The toughest part for me has been making sure that I am not only making decisions with my heart. I want to help my daughter. I want to help others. But, we can only do this if we build a successful and sustainable company and sometimes that means making really difficult decisions.

The definition of multi-tasking! Maria giving a talk with her young son on her hip

9.	What would be your one wish for TREND for the year ahead?

I hope that in the year ahead we make at least one new discovery that has a profound impact on at least one of our communities.

10.

If you weren’t CEO of TREND what was Plan B? What did your 10-year-old Maria want to do as a job?

I majored in psychology in college. My 10-year old self wanted to help people, but she never fathomed that this is how she would be doing it.

To find out more about the work of TREND Community please visit
www.trend.community

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Kimberly Haugstad of Global Genes

30/4/2020

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While fairly new to the role of CEO of Global Genes, having joined them in September of 2019, Kimberly Haugstad is certainly not new to the world of rare disease having been CEO of The Hemophilia Federation of America for 11 years. Kimberly talks about her personal and professional journey with RARE and her hopes for Global Genes in the coming years

CEO Series: meeting the beating hearts behind the RARE brands

1.	What made you want to move into the wide world of rare disease, and then specifically Global Genes, and what did that journey look like?

My original why is my son. I have a child with severe haemophilia, and so entered the rare disease space about 13 years ago. I started volunteering because I was really interested in what the future held for my son. At that point in the US, there were lifetime caps on pre-existing conditions and the Affordable Care Act hadn't passed and we had some real challenges with my son’s medication. My husband and I were looking at which one of us needed to make a major job change to get a new insurance plan because we had about two years left before we'd hit our cap.
The Hemophilia Federation of America approached me about coming on board as their CEO and helping them really build out the organisation. I thought, "Well, maybe I'll give this a try for a short period of time." I was there for 11 years in the end, but what happens in rare is you fall in love beyond your child. You fall in love with the other families who are going through the same stages you have been through, or the adult heroes willing to participate in new clinical trials to get drugs to market that would benefit my child. It is really compelling.

The sort of endurance, resilience and tenacity, and the ability of rare patients to just survive is utterly inspiring every day.

I was then approached by a recruiter who introduced me to Global Genes. I knew in the next one to three years I was probably going to leave haemophilia for my own professional growth but I wasn't yet looking. However, I learned more about the organisation, and I caught the bug! To be able to be a part of this broader journey of people globally, in an organisation very similar to the one I came from where the focus truly is on the patient, in a safe space, is so rewarding.

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

I think opportunity and challenge both lie with partnerships. I think that we have so much potential in rare right now. There's a great deal of opportunity, and frankly, a lot of interest. We are obligated to take this on and go hard and go fast.

We need to build awareness as an organisation. It is really important to be accessible everywhere, but we don't need to do everything ourselves. Sometimes there are people who feel competitive and I'd really like to break that down and role model how partnerships are an opportunity, the way we can operate to achieve the greatest good. We want to demonstrate that you can still be you as an organisation but by partnering you exponentially grow your reach. We are Global Genes—we need to be global. In order to truly scale, it is imperative that we have partnerships. If you see someone doing something really great, join them, celebrate them, promote them

3.	What is your proudest moment in your career thus far?

I am still so new at Global Genes, I think right now it's a haemophilia moment for me. A couple of years ago, we were approached by The AIDS Grove in San Francisco. The AIDS Grove is an area of parkland in the Golden Gate Park in San Francisco, given to the AIDS community to serve as a memorial. The AIDS Grove had come to understand, that in the world of AIDS, haemophilia was not well represented in The Grove. The haemophilia story in the AIDS narrative is incredibly powerful and really helped drive the movement towards really recognising and understanding the disease and ultimately having therapies.

We worked with The Grove, and it was an incredibly beautiful moment when the Hemophilia Memorial was unveiled. It is absolutely marvellous, it is the most beautiful park, and having the opportunity to have haemophilia remembered was so important. To not be forgotten in that greater narrative is so powerful.

This then led to us connect with the curator of science and medicine at the Smithsonian, the national American history museum in Washington, D.C., and we made multiple donations of patient haemophilia artefacts. This means the historical remembrance of the haemophilia story, which for me is very important because of my son, will never be forgotten. It feels incredibly powerful that we've been able to accomplish both the visual memorial and the documentation of the archival memorial. Those are my proud little moments.

The beautiful hemophilia memorial in the AIDS Grove

4.	What and who are your personal and professional inspirations and why?

I would always say my son who faces his pain with a fierce and conquering attitude. I would also say strong women. I don't want to pick any one woman. I so admire and am inspired by strong women who aren't afraid to keep pushing to make things happen.

5.	What advice would you give someone considering working in the rare disease space?

I would say that someone coming into the rare disease space ought to listen first. There is a lot happening and duplication of efforts may not be necessary. Do their research, really look at the landscape, and do not be afraid to partner. Sometimes the best way to make an impact quickly is to jump in and help make something already underway stronger with your support, versus always starting something new.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

No. Where do I start? Firstly, these ultra-rare and rare conditions are different. It can take so much longer to get diagnosed, and getting care, regardless of what country you live in, when you're undiagnosed, is an incredible challenge. People can get caught in limbo. In the U.S. it's also an issue getting access to medications based on our complicated healthcare system. If there is a drug that would potentially work for you but you're undiagnosed, then potentially your insurance company may not pay for it or you may need to appeal a decision and be forced to petition multiple times to get an exception. The stress and financial impact to patients is incredibly deep and frustrating.
For example, haemophilia is very expensive and I have seen multiple instances where insurance companies and the U.S. government’s Medicaid system advise parents, "What you really need to do here is get a divorce and one of you quit your job. Because then mommy or daddy, whichever one doesn't work, might qualify for Medicaid. You’ll need to live in poverty but your child may be able to get his medicine." I’m using my haemophilia example here but insert new disease and it’s the same. The healthcare system simply isn’t built for rare or chronic disease, so families are forced into stressful and limiting workarounds to obtain life-saving treatment. It is crazy but it's real.

7.	What would you say are some of the biggest motivators for your employees?

It never ceases to amaze me how small but mighty the teams behind charities are. I think people just assume that there are these massive teams of 70-100 people in an office. I think every one of our team members is ten people in one. They are amazing. A conference such as the Global Genes RARE Patient Advocacy Summit provides inspiration that carries through the rest of the year!

Everyone that works for us, regardless of their connection to rare disease, has a passion and came to us looking to work for an organisation that allowed them to contribute something to the community, to the world around them. We might not be doctors saving lives, but we can help deliver a message and drive change. And it’s great to see families meet each other. They might meet the first person they have ever spoken to with their same disease and seeing that happen is beautiful.

Kimberly with our Editor, Nicola Miller, at Global Genes Rare Patient Advocacy Summit, September 2019

8.	What are the toughest parts of being a CEO, and conversely what are the most rewarding?

I think the toughest thing is deciding what you can't do. There are only so many hours in a day, and the team here is less than 30, so there are many opportunities that we just can't get to yet. But I think that's the opportunity, too. All that untapped exciting possibility!

9.	What would be your one wish for Global Genes for the year ahead?

I am really excited about our expanding scope and commitment to broaden our reach to all families living with rare disease wherever they may live. Rare is everywhere and there are rural families, urban families, isolated families living in countries around the world, people from every walk of life that need support and we are dedicated to being here for them. This takes a team but also technology and innovative strategies and partnerships which we are solidifying now to be the inclusive organisation that brings rare together.

10.

If you weren’t CEO of Global Genes, what was Plan B? What did your 10-year-old self want to do as a job?

If I wasn't here, I had a plan to do something entrepreneurial. Before my son was diagnosed, I worked in technology, and then I worked in the investment world for a while and had my own consulting company. I grew up with strong female role models that always set the expectation that a woman does what she needs and wants to and so my 10-year-old self definitely had big ideas and they all were about being in charge of something. I never envisioned I would end up so closely tied to health, health equity, research, science or technology but it is exactly where I need to be and what I absolutely love.

To find out more about the work of Global Genes please visit
www.globalgenes.org

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Karim Smaira of Genpharm

28/4/2020

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Meet the CEO shining a light on rare disease in the Middle East. Karim Smaira is the co-founder of pharmaceutical and market access consultancy Genpharm. He talks to RARE Revolution about the importance of putting the patient first and his aspirations for MENA (Middle East and North Africa) patients in the future

CEO Series: meeting the beating hearts behind the RARE brands

What made you want to move into the wide world of rare disease, and then specifically in the founding of Genpharm and what did that journey look like?

We live in a region where a strong sense of tradition and cultural heritage co-exist with modernity. As a result, despite the increase in general awareness, Middle Eastern societies still witness high rates of consanguineous marriages, leading to a higher prevalence of inherited and genetic diseases, compared to other parts of the world. While we were exploring the pharmaceutical landscape, it quickly became clear that the level of research and development investments and the number of clinical programs in rare diseases, were going to produce a significant amount of innovations and breakthrough therapies. Moreover, this segment was underserved in the area. The combination of these factors led to establishing Genpharm with a focus on Rare Diseases.

2.	What do you anticipate will be the biggest challenges and opportunities for your organisation in the next two years?

The markets we cover are very dynamic and are maturing extremely fast. We have to remain agile and up to date to be able to anticipate or adapt to the current trends both globally and locally. There are significant changes in the landscape particularly in regulatory, market access, pricing and reimbursement. The biggest challenges are certainly in funding, as more orphan drugs come to the market. The Ministry of Health are adopting models based on clinical outcomes and cost-effectiveness resembling the existing models in Europe.
The biggest opportunity today is in the gene therapy area. Many diseases that have significant societal and economic burden today will soon be treated effectively. We strongly believe that healthcare providers will accommodate for such innovative and curative therapies in collaboration with the industry which is considering creative pricing and payment models.

3.	Karim and with Co-founder and chairman, Kamel Ghammachi What is your proudest moment in your career thus far?

I see my career as a journey with milestones on the way which makes it difficult to point a single moment out. Nevertheless, looking back I would say there are two events that I am particularly proud of namely, the day the first child was infused with Spinal muscular atrophy (SMA) gene therapy in the Middle East with the excitement and emotions of the family and the physicians and how much they valued the work done by Genpharm; and the cultural transformation I led at Merckserono making it at the time one of fastest growing companies in the region and recognised amongst the best work environments in the industry.

What and who are your personal and professional inspirations and why?

I am truly inspired by the work we are doing at Genpharm. Shedding light on the Middle East and the rare disease segment in the region has helped awareness and accelerated the access to the new class of therapies. While we were trying at first to convince multinational companies to consider the region, we have managed to partially reverse the situation with companies now initiating the contact to explore the Middle East opportunity.

Furthermore, I have met many parents and families of children with rare disease. The dedication, commitment and the length at which these parents are willing to go to help their children is indescribable and extremely inspiring. It serves as motivation, but it also helps put life in perspective and make us realise how fortunate we are.

5.	What advice would you give someone considering working in the rare disease space?

Anyone interested in working in this space should always think Patient First. It might sound like a cliche but it’s true. This goes from the people in the lab to the field staff. One thing I learnt is that patience and perseverance are key ingredients to success. Things never happen as fast as we would like them to, particularly in the rare disease space. However, when working in the interest of the patient results tend to follow.

6.	Do you think the government does enough for the rare disease community at a local and central level, and what gaps do you see currently or emerging?

Despite a lot of efforts, in particular in awareness, there are several areas that require additional investments and can be done through public private partnership (PPP) collaborations. For instance, several diseases that have effective treatments could be added to the newborn screening panels which remain mostly limited to a few haematological and metabolic disorders.
There is also a lack of national patient registries. Most are still hospital based with little exchange of information between hospitals. Registries are a very valuable resource to support clinical trials and/or publications on prevalence and incidence of disease which is challenging to obtain.

7.	What would you say are some of the biggest motivators for your employees?

I believe our employees are well aligned with our mantra and values. Bringing Cures to MENA patients is what we live by. The patient is always at the centre of our organisation. These are not merely slogans, but they are part of our culture. We bring a sense of urgency and a passion to what we do. Our employees are motivated by what Genpharm stands for and by their real ability to impact patient’s lives.

8.	Karim and Kamel What are the toughest parts of being a CEO within Genpharm, and conversely what are the most rewarding?

Being a CEO in a company the size of Genpharm is both challenging and rewarding for the same reasons. You need to be involved deeply in both setting the strategic direction and in the daily operations. Having said this, being so close to the business allows you to have a direct impact on the development of the organisation. As the company grows, it is important to promote growth of staff and to have competent and trustworthy personnel to delegate to. We are fortunate to be in this situation today as we are developing a few employees to take on additional operational and management tasks.

9.	What would be your one wish for Genpharm be for the year ahead?

This year is turning out to be one of the most challenging in recent memory. With the current geopolitical situation in the region, the dramatic drop in oil prices, on which government budgets are built in the Gulf and the on-going global Coronavirus outbreak, we are indeed in crisis management mode. Nevertheless, we are still optimistic, and my wish would be to celebrate meeting our ambitious target by year end.

10.

If you weren’t CEO of Genpharm what was Plan B? What did your 10-year-old self, want to do as a job?

Since joining the industry, I always wanted to do something entrepreneurial. My education and the corporate world prepared me well for this endeavour by training me and helping me acquire management experience and expertise.
What is surprising is that growing up, I never thought of working in the healthcare or pharmaceutical sectors. Thinking of it now and how passionate I am about what we do, I couldn’t picture myself in any other industry. We are so fortunate to be able to reach and impact so many people lives in such a positive way.
To quote Confucius: Choose a job you love, and you will never have to work a day in your life.

To find out more about the work of Genpharm please visit
www.genpharmservices.com

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Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease contentContact UsEditor: editor@rarerevolutionmagazine.com​Advertising: rstewart@rarerevolutionmagazine.com

CEO
Series

Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease content
Contact Us
Editor: editor@rarerevolutionmagazine.com
Advertising: rstewart@rarerevolutionmagazine.com