"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

ST. PAUL, Minn., May 25 (UPI) --A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current ...

In many countries, newborn screening programmes test babies for certain inherited conditions shortly after birth.

[2] A rare, inherited neurodegenerative disorder in infants and young children caused by a gene mutation causing progressive nerve cell damage and destruction. [3] Newborn conditions fall into five ...

In India, rare diseases are not so rare. It is estimated that around 70 million Indians live with one of more than 7,000 rare diseases, many of which are genetic […] ...

The era of genetic medicines has ushered in novel and exciting ways of treating genetic diseases, one of which includes bringing to reality the promise of a one-time treatment by addressing the root ...

If autoimmune disease runs in your family, you may have been told some version of this: It’s in your genes. But science is revealing a deeper layer of complexity; genetic predisposition influences ...

"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...