Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

An estimated 170,000 Australians were diagnosed with cancer in 2025. Many people know the causes of cancer are partly genetic. But how do your genes, which contribute so much of what makes you you, ...

Optimizing Blinatumomab Access for Low- and Middle-Income Countries: Feasibility of a Shortened, Vial-Sharing, Outpatient Approach for Pediatric ALL We retrospectively analyzed 473 adult patients with ...

A Phase I/IIa clinical trials co-led by Linda Laux, MD, from Ann & Robert H. Lurie Children's Hospital of Chicago, show that ...

Houston Methodist scientists have uncovered an unexpected side of a protein best known for its link to brain diseases. The ...

A doctor who had a genetic condition that prevents teeth from forming searched for the DNA mutation that had affected his family for over 150 years.

RGX-121 was rejected in early February, with Regenxbio listing the primary reasons given by the FDA as concerns about the ability to properly define a patient population, the use of a natural history ...

By Hugo Francisco de Souza Rare genetic variants in a little-studied nicotine receptor subunit are linked to markedly lower ...

An integrin mutation impairs skin T cell migration, enabling HPV proliferation that causes warts and lesions in a rare genetic dermatological condition.

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.

Proof-of-concept trial in a single patient shows that cells can survive transplantation without immunosuppression ...