Rare diseases are not actually that rare. Collectively they affect 500 million people around the world. Some, such as Huntington’s disease and sickle cell disease, affect many thousands, others only ...

The FDA guidelines aim to create a new pathway for bespoke therapies due to the challenges of conducting large studies.

For too long, people living with rare diseases have faced uncertainty, delays, and unacceptable variation in the care they receive. The launch of this quality standard is a watershed moment. For the ...

Her son Ben, she learned, had mucopolysaccharidosis (MPS) type 2, or Hunter Syndrome, one of a group of rare diseases that is ...

Rare Disease Day is held on the last day of February to raise awareness for rare diseases and address drug development ...

This week’s Capitol Hill meetings come on the heels of rejections of ultra-rare disease drugs developed by Biohaven and Saol Therapeutics. Physicians and patient groups implored the FDA to expedite ...

Researchers at the Sanford Stem Cell Institute have taken the fight against rare diseases to the lab, to patients’ bedsides ...

Globally, an estimated 300 million people live with a rare disease. They typically experience isolation, diagnostic difficulties, lack of therapies, fragmented care, stigma, a struggle for recognition ...

Released ahead of tomorrow's Rare Diseases Day, the report (PDF) says that people affected by rare conditions face "profound ...

In Kampala, the Africa Rare Disease Research Center (ARRC), in partnership with the Rotaract Club of Kampala Mahaba, held a solidarity walk on Saturday, aimed at raising public aw ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.