Latest Genetic disorder Stories
An international team of scientists writing in the journal Nature Genetics has helped to identify a single genetic mutation in National Paracycling Champion Tom Staniford that has led to his extremely rare condition.
Scientists at USC have unlocked the mystery of why new cases of the genetic disease Noonan Syndrome are so common: a mutation that causes the disease disproportionately increases a normal father’s production of sperm carrying the disease trait.
Using a novel genetic 'editing' technique, Duke University biomedical engineers have been able to repair a defect responsible for one of the most common inherited disorders, Duchenne muscular dystrophy, in cell samples from Duchenne patients.
A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene.
- Having a loud voice; vociferous; clamorous.
- Of grand or imposing sound.