A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

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 ...

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 ...

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

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

Additionally, it was found that defects in the ADNP gene cause ADNP syndrome, a rare genetic disorder associated with developmental delays, learning disabilities, and symptoms of autism. "In parallel, ...

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

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...

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

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

While genetic testing may be diagnostic, ordering the tests requires physicians to consider the possibility of the illness first. Treatments Curative treatments are rare but available for diseases ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...