Latest Genetic disorder Stories
With over 1,900 mutations in the genes responsible for cystic fibrosis (CF), separating the harmful alterations from the benign ones has been a long, arduous undertaking for geneticists. Until now, that is.
A team of scientists has found a mutation in a gene crucial to normal heart development could play a role in some types of congenital heart defects.
A type of genetic abnormality linked to cancer is more common in people with type 2 diabetes than the rest of the population, a new study has found.
A drug developed to treat genetic diseases such as Duchenne muscular dystrophy and cystic fibrosis may need a radical rethink.
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.
- One who brings meat to the table; hence, in some countries, the official title of the grand master or steward of the king's or a nobleman's household.