Rare diseases Advisory Group

DNA test, dna mapWendy White has been recognized as one of the 100 most inspiring people in pharma for her work with rare diseases. Her company, Siren Interactive promotes the connection between research and patients. Today she tells us, why rare diseases should matter to everyone.


If you want to know what healthcare will be like tomorrow, take a look at rare diseases today.

Why would diseases that affect less than 1 in 2, 000 people lead the way for the other 1, 999? Consider this: there are nearly 7, 000 rare diseases and together they impact 25 to 30 million Americans.

Each one of these diseases requires a unique approach in terms of diagnosis and treatment and what we’re discovering is how effective this approach can be for more common diseases. Personalized medicine, based on our growing understanding of genetics, is impacting everything from how we treat colorectal and breast cancers to the dosing of warfarin.

Innovation happens at the margins, as Bill Gates famously noted. Change takes place not in those areas of knowledge where there are tested protocols and entrenched solutions, but where knowledge and solutions are lacking. In medicine, rare diseases are that growing edge. The knowledge and methods coming out of the rare community benefit us all.

Statins Were Discovered via Rare Disease Research

Sharon Moalem, MD, PhD, the award-winning author and geneticist, has created a video explaining the often overlooked fact that rare disease research unlocks cures for everyone.By studying people with rare genetic disorders, researchers gain invaluable insights into how our bodies function; opening up avenues for new medical discoveries and groundbreaking treatments for the rest of the population. A classic example is research on familial hypercholesterolemia (FH) that led to the development of statins that block the enzyme HMG-CoA reductase and help reduce elevated cholesterol levels. As Moalem says, “The rare informs the common.”

Technology Speeds Diagnoses

One of the biggest challenges for rare disease patients and the doctors who care for them is diagnosis. According to the Shire Rare Disease Impact Report it takes an average of 7.6 years in the US and 5.6 years in the UK for a patient with a rare disease to receive a proper diagnosis. Through no fault of their own, physicians find it impossible to keep up with the volume of new information. Donald Lindberg, director of the National Library of Medicine, once said, “If I read and memorized two medical journal articles every night, by the end of a year I’d be 400 years behind.”

The rare disease community is meeting the challenge head on with the help of technology designed to aid diagnosis and search engines, like Find Zebra, that may have broader application for more common diseases. As new technologies, such as DNA sequencing, are perfected they also become more affordable—enabling widespread use.

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