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Mike Klein of Genomenon

4/5/2020

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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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

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