New tool allows researchers to study gene mutation directly within living human cells
Gene mutations have consequences both good and bad—from resistance to conditions like diabetes to susceptibility to certain ...
Structural analysis shows Alzheimer's disease mutation produces 'cottonwool' structures in the brain
An international collaboration led by RIKEN researchers has discovered how unusual spherical structures form in the brains of ...
Decoding disease: Novel tool helps identify mutations in mitochondrial DNA
A new study led by Yale geneticists provides a long-needed tool to determine which mutations in the mitochondrial genome ...
Huntington's disease gene may also enhance early brain development and intelligence
The genetic mutation that causes Huntington's disease (HD)—a devastating brain disease that disrupts mobility and diminishes ...
GEN1d
Combining Base and Prime Editing to Decipher Which Gene Variants Lead to Cancer
Researchers at ETH Zurich combined two CRISPR-Cas methods to decipher how mutations in a cell’s genome affect its function.
Science News5d
A common drug may help treat a rare genetic disease
Ibuprofen counters problems caused by mutations in the MAN1B1 gene, fruit fly tests show. Early results in three children are ”fairly positive.” ...
Saudi Arabia: Researchers identify rare genetic disorder for the first time in Arab world
Dubai: A Saudi research team from Qassim University has discovered an extremely rare genetic disorder, Bethlem Myopathy, for ...
Irish Examiner1d
Genetic flaw might be key to stopping people craving sugary treats – study
Scientists have identified a genetic mutation which may be the key to stopping people from craving sugary treats. The ...
One gene provides diagnoses for 30 patients whose condition was unexplained for years
An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive ...
News Medical on MSN5d
Genetic diagnosis solves medical mystery for 30 undiagnosed patients
An international team of researchers has provided a genetic diagnosis for 30 individuals whose condition was undiagnosed for years despite extensive clinical or genetic testing.
Simple blood test could predict which ovarian cancer patients will stop responding to treatment
A simple blood test could soon predict which ovarian cancer patients will stop responding to their treatment, paving the way ...
Hospices 'absolutely vital' to children with rare conditions, say parents - amid fears of funding constraints
Hospice chiefs are concerned about the impact of the rise in employers' national insurance contributions, which the sector ...