FOX 13 Tampa Bay

Rare genetic mutation linked to anesthesia brain injury in patients with Venezuelan heritage

A mitochondrial DNA mutation passed down through the maternal line in some Venezuelan families has been linked to severe ...

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 ...
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 ...

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 ...

Single-dose base editing corrects PKD1 mutation and extends survival in ADPKD preclinical models

Mayo Clinic researchers have developed a promising gene-editing therapy that directly corrects a genetic mutation responsible ...

Chinese Scientists Identify Key Mutation In Ebola Virus, May Improve Outbreak Surveillance

Chinese researchers have unveiled a crucial mutation in the Ebola virus that significantly enhanced its infectivity during a ...
mskcc.org

Using Only Immunotherapy Successfully Treats Several Cancers With MMRd Mutation, Improves Quality of Life

Maureen Sideris, seated, with her sister Marion, receiving the 8th of 9 immunotherapy infusions during successful treatment for early-stage gastroesophageal junction cancer at Memorial Sloan Kettering ...
News-Medical.Net on MSN

Atypical mutation offers clues to personalized pancreatic cancer treatment

A new study led by Aaron Hobbs, Ph.D., and Rachel Burge, Ph.D., at MUSC Hollings Cancer Center, reveals why a specific gene ...