This 11-year-old has battled a rare disease for years — a breakthrough drug helped deliver relief

Actor turned rare disease advocate Luke Rosen tells how his daughter, Susannah, lives with a KIF1A-associated neurological ...

The Stewards of Chernobyl Are Passing Mutations Down to Their Children

The DNA of Chernobyl cleanup workers showed mutations caused by radiation that were also evident in the genes of their ...

Could a new AI model transform genetic testing and drug discovery?

A Google DeepMind invention that uses artificial intelligence (AI) to predict how DNA mutations behave could have a ...
News-Medical.Net

First topical CRISPR gene therapy corrects disease-causing mutations in human skin

Gene-editing tools like CRISPR have unlocked new treatments for previously uncurable diseases. Now, researchers at the ...
SurvivorNet on MSN

Three things you should know about the ESR1 mutation in breast cancer

One of the most important developments in breast cancer, especially for people with hormone receptor-positive (HR+) advanced ...

Decoding the molecular signatures of night blindness

Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic study by researchers at the University of Innsbruck now reveals how these ...

Mutation-specific defects in neurological disorders mapped, pointing toward personalized therapies

Patients with CaV2.1 channelopathies face severe and often debilitating symptoms, such as seizures, migraines, tremors, and ...
Digital Journal

New AI tool identifies genetic mutations & the diseases they cause

Scientists at the Icahn School of Medicine at Mount Sinai have recently developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the ...
Labroots

Mutations Lurking in Alternative Proteins May Cause Disease

Although the genetic cause of many diseases have been identified, it’s estimated that as many as 70% of patients with a rare disorder do not know what causes their disease. Millions of people live ...

This New Google AI Can Read Your DNA And Spot Disease Risks

Google DeepMind has introduced AlphaGenome, an AI tool that analyses large sections of DNA to predict how genetic mutations ...
Cancer Therapy Advisor

NCCN NSCLC Guidelines Update Staging, Emphasize Molecular Testing

The National Comprehensive Cancer Network’s newly updated non-small cell lung cancer guideline adds sevabertinib as a treatment option for some patients with advanced disease, makes datopotamab ...
Nature

ABCA3 Mutations and Interstitial Lung Disease

Mutations in the ATP‐binding cassette transporter A3 (ABCA3) gene are increasingly recognised as a significant contributor to interstitial lung disease (ILD) in infants and children. ABCA3 plays a ...