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 ...

Each year, 41,000 babies in Vietnam are born with defects. IVF and gene screening are offering families hope for healthy ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

Kerala doctors successfully performed a life-saving liver transplant on a two-and-a-half-year-old child diagnosed with the ...

Chromatin Bioscience, Mediphage Bioceuticals, and Entos Pharmaceuticals are pleased to announce they are receiving advisory ...

UKRI Innovate UK and NRC IRAP provide funding and advisory support, fostering UK-Canada collaboration in genetic medicine ...

A Louisville mother turned her grief into motivation by becoming a respiratory therapist at the same hospital where her son ...

WASHINGTON — Steven W. Bailey, a character actor known for appearances on “Grey’s Anatomy,” “Modern Family” and numerous ...

BioMarin Pharmaceutical said on Friday it would acquire Amicus Therapeutics for about $4.8 billion, in the drugmaker's second ...