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Latest Genetic disorder Stories

Genome Sequencing Reveals Mutation Causing MDP Syndrome
2013-06-17 05:20:29

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.

2013-06-06 18:27:15

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.

Promise In Duchenne Muscular Dystrophy Shown With Genetic Editing
2013-06-05 08:48:09

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.

2013-03-18 12:12:49

A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene.


Word of the Day
megalophonous
  • Having a loud voice; vociferous; clamorous.
  • Of grand or imposing sound.
The word 'megalophonous' comes from Greek roots meaning 'big' and 'sound'.