This collaboration between The National Organization for Rare Disorders and Medscape is designed to provide practicing clinicians with updates and analysis on a range of clinically important topics ...

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

One in 10 Americans suffers from a rare disease, a statistic that casts the label “rare” in new light. It also drives the work of the National Organization for Rare Disorders, a coalition of patient ...

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying associated traits and symptoms—can identify these conditions earlier and more ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is ...

ALSO HAPPENING NOW, TODAY IS RARE DISEASE DAY, 300 MILLION PEOPLE WORLDWIDE ARE LIVING WITH A RARE DISEASE. AND THIS DAY IS ALL ABOUT RAISING AWARENESS FOR THEM, THEIR FAMILIES AND CAREGIVERS. OUR ...

When the aging brain misfires, the results can be astonishing and a little alarming.

KJ Muldoon wasn’t supposed to make it to his first birthday. He was born in August 2024 with carbamoyl phosphate synthetase 1 deficiency, a genetic disorder that afflicts about 1 in 1.3 million ...

See more of our trusted coverage when you search. Prefer Newsweek on Google to see more of our trusted coverage when you search. When Casey McPherson became a father, his purpose became clear. He ...

The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive advocate for the development of rare-disease drugs. When I joined the FDA to be ...