Several patient and disease advocacy organizations have responded to the Center for Drug Evaluation and Research's (CDER) ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

After facing a life-threatening health crisis, Ben Muñoz ’07 MBA built an online community that now connects tens of thousands of rare disease patients each month. When Ben Muñoz ’07 MBA suffered a ...

HERE IN BOSTON. YOU ARE IN A SMALL LAB IN BOSTON. A TEAM OF DEDICATED SCIENTISTS, DOCTORS AND GENETICISTS PUSHED THE BOUNDARIES OF MEDICAL KNOWLEDGE. IT’S REALLY HARD TO KNOW WHERE TO LOOK IF WE DON’T ...

The Rare Disease Network, along with Calvin University, Corewell Health Helen DeVos Children’s Hospital, MSU College of Human Medicine, Pine Rest Christian Mental Health Services and Van Andel ...

How a genomics-informed learning health system would facilitate better data sharing and improve diagnostic processes, ...

Rare Disease Day began in 2008, launched in Europe by EURORDIS to shine a light on millions living with conditions that were often misunderstood, misdiagnosed or ignored. Nearly two decades later, the ...

In the five years since Italy-based Chiesi Group established its rare disease division in Boston, the unit has landed regulatory approvals worldwide for 10 therapies — all small molecules and ...

Mustafa Sahin, MD, PhD, Neurologist-in-Chief and Chair of the Department of Neurology at Boston Children's Hospital, and his collaborators have been awarded an NIH grant of over $8.6 million for the ...

For many rare disease patients, access to expert care remains out of reach. Families often endure years of misdiagnoses and medical visits before finally receiving an accurate diagnosis. This is often ...

Khartik Uppalapati is a teenage wunderkind who has already accomplished more in his 16 years than most of us will in our entire lifetimes. Uppalapati, who will soon enter his senior year at a Virginia ...