Interview with Rudy Benfredj, CEO and Co-Founder at Mendelian: Fixing Diagnosis for Rare Diseases

At Mendelian, we enable better clinical care through earlier rare disease diagnosis. For patients, the journey to diagnosis is often long and stressful. In the UK, on average, patients endure three misdiagnoses via five different doctors and a wait of over five years before receiving a diagnosis.

Our software, MendelScan, uses state-of-the-art technology, data capture and the latest medical knowledge to enable and improve rare disease diagnosis.


How did you come up with the idea for the company?

Mendelain was founded in 2015 by a group of technologists and clinical doctors, the team gathered around a clear need from the rare disease patient community. After speaking to doctors and patients in the field, it became obvious better and faster diagnosis was the enabler for significant patient outcome. Without a diagnosis, there is no hope for a treatment, not even for a patient group to provide advocacy or support thought a community. The diagnosis challenge seemed like something we could tackle using our background in Data Science.

We wanted to create a solution to support primary care physicians to quickly refer to the right specialist, and to ultimately enable faster diagnosis and treatment for patients. Through more efficient care, we therefore help to relieve pressure on an overstretched NHS. In the past decade alone, undiagnosed rare diseases have cost the NHS in excess of £3.4 billion.


What advice would you give to other aspiring entrepreneurs?

Just Start!

No way to know how the market will react to your solution until you get out there and give it a try. Try to fail as fast as possible, this is the mindset shift we all need to keep getting better and improve how we deliver the impact we’re dreaming about.

What can we hope to see from Mendelian in the future?

In Rare disease, you need scale to have impact, so you can expect us to keep pushing in terms of expanding our NHS footprint and our clinical relevance by adding new diseases to our portfolio. Our goal is to reduce that diagnosis time until we don’t call it a diagnositc odyssey anymore.