The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient ...

A new artificial intelligence system called DeepRare has beaten experienced rare-disease physicians at their own specialty, ...

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare genetic disorder that causes bone marrow failure and dramatically increases ...

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 ...

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 ...

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 ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives ...

Add Yahoo as a preferred source to see more of our stories on Google. For decades, scientists have theorized that two genetic defects have the potential to essentially “cancel each other out,” ...

As a toddler, Lucas was diagnosed with Creatine Transporter Deficiency, or CTD, a rare genetic mutation that blocks the ...

Our bodies perform many critical metabolic reactions, using a wide range of enzymes and other molecules. When there is a ...

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet ...