Baylor study reveals role of newly inherited DNA variants in recessive diseases
You have your mother's eyes and your father's smile, but genetics is much more than just what's on the surface. ...
Tag: Rare Disease
Study reveals the inner workings of gene mutations linked to ultra-rare syndrome
A team from the University of Ottawa's Faculty of Medicine has completed an exciting new study that reveals the inner ...
AI-based technology unlocks secrets of myasthenic-congenital syndromes
An international team of scientists led by ICREA researcher and Director of the Life Sciences Department at the Barcelona Supercomputing ...
A bitter battle over the ‘orphan drug’ program leaves patients’ pocketbooks at risk
A prescription drug that helps Lore Wilkinson walk and talk despite a rare muscle disease cost her so little for ...
Researchers discover new neurological condition characterized by issues with motor coordination and speech
Researchers at the National Institutes of Health have discovered a new neurological condition characterized by issues with motor coordination and ...
NCI-led clinical trial results in the first approval of a treatment for advanced alveolar soft part sarcoma
A clinical trial led by the National Cancer Institute (NCI), part of the National Institutes of Health, has resulted in ...
Balancing the Good With the Bad
By Stefani Shea-Akers, as told to Keri WigintonIn 2013, when I was an English professor at a community college, teaching ...
Pioneering gene editing technique can repair faulty T cells in patients with CTLA-4 insufficiency
A fault in cells that form a key part of the immune system can be repaired with a pioneering gene ...
First In Nation: UC San Diego Health Offers Treatment For Hereditary Amyloidosis
UC San Diego Health is first in the nation to offer a new injectable medication to patients with nerve damage ...
People with rare diseases face many challenges in accessing appropriate medical care, study finds
People with rare diseases frequently wait years for a proper diagnosis, have to travel long distances for specialty care and ...
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