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 ...

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 ...

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 ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

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 ...

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop. When you purchase through links on our ...

Share on Pinterest New research shows certain KRAS mutations in pancreatic cancer may improve survival rates compared to other mutations. William Taufic/Getty Images In 2020, more than 495,000 adults ...

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to ...

Three start-ups are aiming to create gene-edited babies. Columnist Michael Le Page has no doubt that editing our offspring ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

Scientists have traced a devastating pattern of brain cell loss in a handful of families to a single, ultra-rare mutation ...