The Healthtech VC: Rudy Benfredj, cofounder of Mendelian

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A computer scientist fascinated by the genetic code and its application to rare disease, Rudy Benfredj moved into healthtech and cofounded Mendelian. Mendelscan, their core proprietary technology helps identify patients at risk of developing a rare disease earlier by scanning the electronic patient record. Rudy is an inspiring founder who was recently appointed innovation fellow at UK government’s Number 10 Downing Street. 

Mendelian wants to detect rare disease patients earlier as they believe this is the key to better outcomes. They built diagnostic algorithms, including MendelScan, to scan patient records at scale, searching for signals and clues about whether a patient might be at risk of developing a rare disease. MendelScan can be utilised as a digital population screening tool, helping commissioners, doctors and patients alike. 

Many patients with a rare disease will go through a diagnostic odyssey prior to diagnosis. The diagnostic odyssey involves them seeing a multitude of doctors and undertaking numerous multi-system tests (e.g blood tests, CT scans, MRI scans, nerve conduction studies) often without answers for many years. It can take up to 5-6 years to diagnose a rare disease patient in the UK. This is common in multi-system autoimmune diseases including Systemic Lupus Erythematosus, MS or Behcet’s disease. No diagnosis means no prognosis and no treatment. It also means that patients don’t have access to clinical trials which might help them. Besides the physical outcomes, the uncertainty of the diagnostic odyssey has an inevitable impact on their mental health. 

There are over 8000 rare diseases in the world. This sounds like a lot but actually 1 in every 15-20 people or 300-400 million people worldwide will have a rare disease. Previously a siloed area, it is now evident that rare diseases affect many people and vibrant patient communities of those with rare diseases are evolving worldwide. Rudy is an expert in this area, having spent years discussing the field with both medical experts and patient experts. 

Rudy shares Mendelian’s approach to selling to the NHS and the critical success factors they overcame to be successful in the NHS. These include health economic analyses, strong information governance and increased scrutiny on regulation. He also stresses the imperative nature of strong relationships with pilots and clinicians and how he tackles the nay-sayers. Rudy highlights the central role of patients in this process from patient advocacy groups to patients running the patient participation groups at GP practices. 

Finally, Rudy touches on how Mendelian approaches choosing the next rare disease for their algorithms to work on, his experience of what it takes to be successful in healthtech and how Mendelian have approached hiring across key technical roles and clinical roles. 

Learn more about Mendelian:

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