Turning Needles into Haystacks

By Adam Goulburn and Renata Quintini

Nancy Yu (L), RDMD Founder and CEO, with Onno Faber (R), RDMD Founder.

RDMD is bringing together people with rare diseases and aggregating their health data in order to speed drug discovery

Onno Faber awoke one morning three years ago to strange noises and a sharp pain in his left ear. After multiple visits to multiple doctors, he was diagnosed with Neurofibromatosis Type 2, or NF2 — a rare disease that causes tumors to grow in the nervous system. He learned he would gradually lose his hearing, then his sight, and eventually the ability to walk.

Being diagnosed with a rare disease is harrowing. Research is hard to come by. Outcomes are unknown and/or unpredictable. Treatments are not easily available. Even clinical trials can be hard to access.

Onno Faber is determined to change that. He and his co-founder, Nancy Yu, started a new company called RDMD to help people with rare diseases find treatment faster. The company is aggregating people with rare diseases and collecting and streamlining their data. RDMD aims to be the go-to source for pharmaceutical and biotech companies looking to develop cures. They call it “patient-accelerated drug development.”

We’re proud to announce that our firm, Lux Capital, is joining Onno and Nancy in their fight against rare diseases: We just led RDMD’s $3 million seed round. As part of the investment, we are joining the board of directors.

Diseases are considered “rare” when they affect fewer than 200,000 people. In contrast, Diabetes affects more than 100 million people. Each rare disease may affect only a small number of people, but being diagnosed with a rare disease is quite common. According to the National Institutes of Health, there are 7,000 known rare diseases. One in ten Americans — 30 million people — have been diagnosed with a rare disease.

The convergence of a number of recent advancements has made rare disease the fastest growing segment in the drug industry. The cost of genetic sequencing has gone down dramatically, making it easy to determine who is at risk for certain diseases, and what therapeutic options are more likely to work. Social media allows people with rare diseases to find others like them and share information and support. AI and ML can identify patterns and make sense of massive amounts of seemingly unrelated data.

Less than 5% of the 7,000 known rare diseases has an FDA approved therapy. The challenge: There is no infrastructure in place to collect clinical data needed to power research and development.

RDMD is building a platform to serve the specific needs of rare disease R&D. The company aims to proactively build out resources for individual rare diseases, making it easy for pharmaceutical companies to start new trials.

Each disease will have a custom RDMD portal based on the type of information that is most important to track — everything from everyday symptoms to biomarkers and genomic data. Onno and Nancy interview people with rare diseases and work with the top research doctors in each disease to determine what information will be most valuable, and in what form. On the backend, RDMD cleans and structures the data so that it can be easily searched and analyzed.

Historically, when a drug company conducted a drug trial, they would own the data that came from testing. But with RDMD, patients own their own information and can choose to share the information with multiple researchers. Privacy and data security are top priorities for the company, which only uses de-identified data for research. Even then, patients remain in control of the data, including whether and with whom it is shared.

For the first time ever, people with rare diseases will have access to a longitudinal health record they can easily share with doctors, researchers and biotech companies, as well as other patients. This information will be helpful to patients, and valuable to drug makers.

There is still much to do: building the platform, making the data useful, recruiting patients and employees, and engaging the pharmaceutical industry.

The RDMD team is small but formidable. Onno is an engineer, a technologist, a committed serial entrepreneur — he started his first business in high school — and one of the most open people you’ll ever meet. Last year he shared his DNA code with the world and hosted a hackathon to see if a roomful of 300 programmers could find the missing cure for NF2. Nancy has more than a decade of experience in the biopharmaceutical industry and previously ran corporate development and special projects at 23andMe. She first became interested in rare disease while doing genetics research at Penn and wants to bridge the gap between patients and pharma.

We’re so thankful Onno and Nancy are leading this fight, and we look forward to the day when we can all celebrate their first patient victory.