Ripped Genes

Let’s Talk Orphan Diseases

Five years ago, I was diagnosed with Marfan’s Syndrome, a rare genetic disorder of the connective tissue, based on the fact that I was tall, skinny, and flexible. My doctor ran through a checklist of symptoms, which included such tests as “can you touch your toes” or “how far back can you bend your thumb”, and concluded that I was in the top 0.01st percentile (i.e. 1 in 10,000) worldwide. If only I’d come anywhere close to this number during my academic career!

A year later, however, after undergoing a proper genetic test, I was “undiagnosed” with the disease, which meant that I no longer had any excuse for my physical frailty. This is but one example of how the diagnosis and treatment of rare diseases is very much in its infancy (incidentally, more than 50% of people with rare diseases are children).

How can investors fund cures in this high-risk sector? The development of a single orphan drug often involves an unfavorable risk/return profile because the incidence of the diseases they treat is so low. Roger Stein has proposed a solution whereby 80 to 150 drugs are pooled together in a fund, which would lower the overall risk and yield an annual return of around 5–8%. This could expand the drug development market, bringing institutional investors and pension funds into the fold for rare diseases like Marfan’s Syndrome.

Jeremy Ng, Winter Intern

The Trump Administration’s tax reform bill halves the tax credit provided for the development of orphan drugs from 50% to 25%, which raises the cost of new clinical trials going forward.

The Orphan Drugs Act, which provides other incentives such as longer patent protection and fee waivers, might also come under review by the FDA.

Pooling investments in multiple drug trials allows investors to diversify risk. Orphan drugs also typically have higher success rates and shorter development times, making them suitable for investors concerned with real-world impact.

One of the largest problems in orphan disease treatment is diagnosis, since doctors are often unaware of relevant symptoms. Recognyz, developed by geneticist Sharon Moalem, attempts to diagnose three rare diseases — Marfan’s, Kabuki, and Waardenburg syndromes — through a facial recognition system on a user’s mobile phone.