U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy, to the federal newborn screening list to enable ...

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

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

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 ...

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, ...

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 ...

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 ...

A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.

A North Texas hospital is being credited with saving the life of a newborn baby from Georgia. After being turned away from ...

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 ...