The Times of Israel on MSN1d
Israeli researchers discover gene mutation in Ashkenazi Jews that can cause autism
One in 80 Ashkenazi Jews carry the TBCB gene; Israelis can now test for it as part of the Health Ministry national healthcare ...
Study links rare genetic mutation to severe neurological disorder
A recent study has uncovered the intricate ways in which a rare genetic mutation impacts brain cell communication, providing ...
SMA4h
Unique BICD2 mutation causes severe SMA-LED: Case study
A unique mutation carried by an 8-year-old girl supported a diagnosis of spinal muscle atrophy with lower extremity ...
Understanding the genetic roots of rare mutations in Alzheimer's disease
Alzheimer's disease is a debilitating condition that slowly robs people of their memory and cognitive abilities, affecting millions of people worldwide. Familial Alzheimer's disease (FAD), a rare ...
The Times of Israel on MSN8d
Israeli study finds gene mutation that may cause some autism, possibly enabling treatment
About a million people worldwide have autism originating in mutation in SHANK3 gene; researchers say findings may lead to ...
Breakthrough Autism Study Unveils New Mechanisms and Promising Genetic Treatment
Tel Aviv University's study reveals critical insights into autism caused by SHANK3 mutations and demonstrates successful ...
Decoding protein interactions to better understand how mutations contribute to disease
Investigating how proteins interact is key to understanding how cells work and communicate. In a new study published in ...
Understanding and navigating genetic risks for cancer
Genetic mutations can increase cancer risk. BRCA, Lynch syndrome, and TP53 mutations are linked to specific cancers. Regular ...
The Harvard Crimson13d
HMS Study Reveals How Mutation Can Accelerate Breast Cancer Progression
A new study led by Harvard Medical School researchers shed new light on how even a single defective copy of the ...
sicklecellanemianews1d
Trial of gene-editing therapy into SCD’s cause opens in California
Sites in Los Angeles and near San Francisco California are enrolling people with severe SCD for a trial to test a gene ...
News Medical on MSN8d
First U.S. trial uses non-viral CRISPR to correct sickle cell mutation
UCSF Benioff Children's Hospital Oakland is enrolling patients in an innovative clinical trial that seeks to cure sickle cell ...
EurekAlert!1d
The genetic roots of rare mutations in Alzheimer’s disease
Alzheimer’s disease is a debilitating condition that slowly robs people of their memory and cognitive abilities, affecting millions of people worldwide. Familial Alzheimer’s disease (FAD), a rare ...