NSCLC remains the leading cause of cancer-related mortality worldwide, with EGFR mutations being a critical driver in approximately 10-15% of lung adenocarcinomas in Western populations, and up to 40% ...

New genome sequencing algorithm boosts human genome completeness by 20%, improving variant detection and advancing personalized medicine.

Genetic ancestry may play a key role in how acral melanoma, a rare and aggressive type of skin cancer, develops and behaves, ...

Haoyu Cheng, Ph.D., assistant professor of biomedical informatics and data science at Yale School of Medicine, has developed a new algorithm capable of building complete human genomes using standard ...

In A Nutshell Harvard researchers developed BrainIAC, a single AI model that can be adapted to analyze brain scans for conditions from Alzheimer’s to cancer, eliminating the need to build separate ...

Personalized Gene Editing Saves Baby in Record Time In early 2025, researchers successfully treated a baby boy with a rare, life-threatening disease by giving him a version of the CRISPR gene editor ...

Tatiana Schlossberg, the youngest granddaughter of President John F. Kennedy, recently revealed she was diagnosed with terminal acute myeloid leukemia (AML) due to a rare genetic anomaly. In a ...

The purpose of this retrospective study was to investigate the imaging phenotype and genetic variation of three fetuses with FLT4 gene mutations in three families. Ultrasound images of the three ...

Scientists have identified mutations in the CPD gene as a key cause of a rare congenital hearing loss, revealing how disruptions in arginine and nitric oxide signaling damage sensory cells in the ear.

HINXTON, England — At first glance, the news sounds reassuring: sperm cells accumulate genetic mutations eight times slower than blood cells, making them among the most protected cells in the male ...

A new approach to gene therapy for retinitis pigmentosa may help patients with advanced disease regain vision regardless of which genetic mutation is causing the condition. An optogenetic therapy ...

Objectives Women diagnosed with BRCA1/2 mutations face significantly elevated lifetime risks of breast and ovarian cancer. Due to the distinctive biopsychosocial implications of a BRCA diagnosis, the ...