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Tim Guilliams of Healx

4/5/2020

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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CEO
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Tim Guilliams of Healx

Mike Klein of Genomenon

Maria Picone of TREND Community

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Rare Revolution is published by NRG Collective, a not-for-profit media company specialising in rare disease content
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CEO​Series

Tim Guilliams of Healx

Mike Klein of Genomenon

Maria Picone of TREND Community

Author

Archives

Categories

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