RDMD Gets $3 Million to Keep Researching Rare Diseases

RDMD, a San Francisco based healthcare technology company which aims to advance  research for patients with rare diseases, recently announced that it has raised $3 million in seed financing.

The financing was led by Lux Capital, Village Global, First Round’s Healthcare Co-Op, Garuda, Shasta Ventures being the main participants, along with angel investors from the biotech and healthtech industry.

A platform to accelerate rare disease research and drug development

RDMD has developed a technology platform and needs more money to fund its research. According to the healthcare AI startup’s press release, the platform generates deep data insights to accelerate rare disease research and drug development. Also, it provides a patient oriented application that allows patients and families to easily gather, access, share, and benefit from their own medical data.

A solution for securely sharing medical data was proposed last month by Embleema, their first client being the cystic fibrosis community.  And if RDMD and Embleema concentrate on dealing with patient data, other companies are getting funds to advance research for new drugs, as in the case of Theracon, which is developing a new treatment for achondroplasia, the most common form of short limbed dwarfism, or to repurpose existing treatment, as does Healx, another healthcare AI startup.

Since the initial hackathon, RDMD has developed a powerful platform, including the application to help patients better manage their medical data.

“To date, we have enrolled more than 150 patients with neurofibromatosis to use our application. Patients have already been able to connect with or get second opinions from top doctors from across the country, coordinate ongoing care and contribute their de-identified data to research their condition,” said Nancy Yu, chief executive officer of RDMD.

Proceeds of this recent financing will be used to further develop the company’s platform. RDMD wants to collaborate with rare disease bio-pharmaceutical companies to provide data from patients, rare disease doctors, and foundations.

How is RDMD different among healthcare start-ups

Many of the biotech start-ups have been born out of frustration, specialists in related fields being fed up with waiting years and years for any little advancement in drug design, especially when rare disorders were concerned. This time, it was a personal struggle which prompted founder tech entrepreneur Onno Faber, RDMD’s founder, chairman and head of product, to start the endeavor.

When he found out he was suffering from a rare genetic disease with no treatments, he used his tech skills to organize a Silicon Valley “hackathon” in 2017 to dig into his own DNA and hopefully also help others with the same condition.

“RDMD was born out of my own personal journey with a rare disease called neurofibromatosis type 2, a disease that affects only 1 in 30,000 people. I’ve been developing technology products my entire life, and I wondered if we could marry a powerful data and analytics platform with patient data to gain insights into rare diseases,” said Faber, according to the company’s press release on August 20th, 2018.

Faber can now count on a few million dollars. The company that emerged from the hackathon, RDMD, has raised $3 million to build a health-data repository for rare diseases.

“How it feels to have your genome hacked by 300 people”

Late July 2017, after the hackathon, Onno Faber was sharing some of his insight about “how it feels to have your genome hacked by 300 people” on medium.com.

“More than 300 smart people from across the country signed up to spend their Friday night and weekend to participate, ranging from people in biomedical research, Pharma, AI and computer engineering. This alone felt humbling before the event even got started. […] Genomics and computing power go hand in hand, and they drastically lower the barrier for anyone to do medical research. Where we used to be limited working in the realm of biology – looking at real cells in labs – now we can do part of the analysis in the computer. We can generate many hypotheses before actually testing them in real cells.”

RDMD is currently working with researchers at the National Cancer Institute to track pain symptoms in people with NF1, and it has also partnered with the Children’s Tumor Foundation to generate real world evidence from NF patient medical records across all forms of neurofibromatosis. RDMD plans to expand into rare neurological and inherited metabolic diseases.

Rare diseases, a step closer to having more treatments

After the hackathon, data collected and analyzed revealed that an already existing drug, approved for advanced breast cancer, lapatinib (Tykerb), might help Faber, who already started taking it a few weeks ago. “We don’t know if it’s going to work, but we have a good theory,” he says. His insurance thankfully covers it, but he is aware other patients are not so lucky.

Rare diseases might not yet have proper treatments, but more and more people find out they suffer from one, and not all of them have the opportunities Onno Faber has. “There are over 7,000 rare diseases, affecting 1 in 10 people, yet less than five percent of them have an FDA-approved therapy. Collectively, it’s a massive problem,” said Adam Goulburn, Ph.D., general partner of Lux Capital.

RDMD wants to gather the medical data of people with rare diseases, so it can be used for better research, since it can be only a few dozen people afflicted per disease.

The company is using tech tricks to convert a range of health records in different formats, such as doctor’s notes, medical images, and hospital charts, into a single repository that researchers can use to push drug development forward. “The data out there in the world isn’t necessarily accessible for research,” says Faber.

With RDMD’s help, all this data might just get a bit more accessible. And this bit could mean more to the patients.

What is NF2 and how does it affect patients’ lives

Neurofibromatosis type 2, the disorder Faber, who moved from the Netherlands to San Francisco in 2014 to build a video messaging company, has was the first subject, since Faber’s DNA was the only one available at the time of the hackathon.

According to the National Organization for Rare Disorders (NORD), neurofibromatosis 2 (NF2) is a rare genetic disorder that is primarily characterized by noncancerous (benign) tumors of the nerves that transmit balance and sound impulses from the inner ears to the brain (bilateral acoustic neuromas/vestibular schwannomas).

Depending on the exact location and size of the tumors, patients may have problems with balance and walking (gait); dizziness; headache; facial weakness, numbness, or pain; but more typically ringing in the ears (tinnitus); and/or progressive hearing loss.

NF2 results from changes (mutations) in the NF2 gene, which regulates the production of a protein that functions as a tumor suppressor. In more than half of NF2 cases, the disorder is caused by spontaneous (new) mutations of the gene. In other affected individuals, NF2 is inherited in an autosomal dominant pattern.

2018 has been really prolific for biotech companies tackling rare disease treatments. Interested in reading more about innovations and treatment plans tied to rare diseases? Check out our coverage of: Healx, Therachon and Orchard Therapeutics.