Scientists at Gladstone Institutes have flipped the traditional approach to finding potential treatments for deadly diseases.

"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 ...

The Food and Drug Administration (FDA) announced a new proposal Monday for flexible drug approval pathway treatments ...

The Food and Drug Administration aims to evaluate treatments for rare diseases based on plausible evidence that they would work — without requiring a clinical trial first.

A "genomic-first" approach to screening for rare genetic disorders—identifying specific genetic variants and then studying associated traits and symptoms—can identify these conditions earlier and more ...

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 ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days and potentially eliminating the need for invasive ...

An Ice Age double burial in Italy has yielded a stunning genetic revelation. DNA from a mother and daughter who lived over 12,000 years ago shows that the younger had a rare inherited growth disorder, ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...

Milan, Italy: A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...