This photo provided by Emilys Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emilys Entourage via AP) ...

A rare cause of hereditary cognitive decline known as CSF1R-Related Disorder (CSF1R-RD) gets its name from mutations in the CSF1R gene, discovered by Mayo Clinic. Memory loss occurs as the condition ...

Precision medicine in GU cancers is evolving with biomarkers like BRCA1/2 mutations influencing PARP inhibitor use and pembrolizumab's tumor-agnostic approval for microsatellite instability. FGFR3 ...

Investigators have unveiled for the first time that changes in certain genes affect an aggressive cancer, T-cell acute lymphoblastic leukemia (T-ALL), differently depending on genetic ancestry. The ...

Mutations are changes in the molecular 'letters' that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

Researchers at the University of California have created a novel data structure and compression method that allows ...

For 10% of colorectal cancer patients, hereditary factors play a role, with higher percentages among younger patients.

From Tama, Japan's most famous stationmaster calico cat, to the lasagna-loving, ginger Garfield, cats with orange fur are both cultural icons and beloved pets. But their distinctive color comes with a ...

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...