Opportunity
“Rare diseases” are defined as affecting fewer than 200,000 people—which still amounts to 30 million people in the US alone. Similarly, "orphan diseases" are illnesses whose treatments aren't pursued due to the limited number of potential patients and high cost of development.
They can take the form of genetic syndromes, immune system problems, errors of metabolism, neuromuscular disorders and other disease processes. Given the broad range of illnesses in the “rare disease” category and the (relatively) small number of people affected, they are often under-researched.
Insight
The Manton Foundation first ventured into genetic research after doctors and researchers at Boston Children’s Hospital made them aware of the lack of investment in this area. After speaking to experts, the family realized that there was an opportunity to strengthen the field's ability to respond to orphan diseases and to encourage cross-disciplinary partnership. Funding could provide training opportunities for young investigators in orphan diseases—fields that are medically important but not as popular or lucrative as other specialties.
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