Quantcast

Latest Genetic disorder Stories

Cystic Fibrosis Genetics Breakthrough
2013-08-26 12:46:54

Brett Smith for redOrbit.com - Your Universe Online With over 1,900 mutations in the genes responsible for cystic fibrosis (CF), separating the harmful alterations form the benign ones has been a long, arduous undertaking for geneticists. In a new report published in Nature Genetics, researchers describe major progress in determining which mutations are which, increasing the number of recognized CF-causing mutations from 22 to 127. The new findings represent 95 percent of the...

Genetic Mutation Linked Congenital Heart Defect
2013-07-30 08:39:37

April Flowers for redOrbit.com - Your Universe Online A team of scientists from The Research Institute at Nationwide Children'sHospital has found a mutation in a gene crucial to normal heart development could play a role in some types of congenital heart defects - the most common birth defect in the US. The findings were published in the journal Human Mutation and could help narrow the search for genes that contribute to this genetic defect, which affects as many as 40,000 newborns a year....

2013-07-15 13:34:54

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. People with type 2 diabetes are already known to have a higher risk of cancers, especially blood cancers like lymphoma and leukaemia. The new study, led by scientists at Imperial College London and CNRS in France, suggests that mutations called clonal mosaic events (CMEs) may partly explain why this is. CMEs are defects that result in some...

2013-06-26 12:53:53

A drug developed to treat genetic diseases such as Duchenne muscular dystrophy and cystic fibrosis may need a radical rethink. In a new study published on 25 June in the open access journal PLOS Biology, researchers question the mechanistic basis of the drug called PTC124 (also known as Ataluren), casting doubt as to whether it has the molecular effects that are claimed for it. This may have implications for its effectiveness in treating genetic diseases. An estimated 10% of all human...

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

Lee Rannals for redOrbit.com - Your Universe Online 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. Staniford suffers a rare condition known as MDP Syndrome in which he is unable to store fat under his skin, despite having type 2 diabetes. Scientists had been baffled by Tom's condition, but advances in genome sequencing...

2013-06-06 18:27:15

Genetic mutation of a testis stem cell actually gives the disease an edge, making older fathers more likely to pass it along to their children 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. When this Noonan syndrome mutation arises in a normal sperm stem cell it makes that cell more...

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

Duke University 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. Instead of the common gene therapy approach of adding new genetic material to "override" the faulty gene, the Duke scientists have developed a way to change the existing mutated gene responsible for the disorder into a normally...


Word of the Day
call-note
  • The call or cry of a bird or other animal to its mate or its young.
'Call-note' is newer than 'bird-call,' which originally referred to 'an instrument for imitating the note of birds' but now also refers to 'the song or cry of a bird.'
Related