News tagged with genetic defect

Related topics: genes , gene therapy




Growing up as a neural stem cell: The importance of clinging together and then letting go

Can one feel too attached? Does one need to let go to mature? Neural stem cells have this problem, too.

Neuroscience created Apr 25, 2012 | popularity not rated yet | comments 0 | with audio podcast

Team announces breakthrough for degenerative vision disorder

A research team, led by John Guy, M.D., professor of ophthalmology at Bascom Palmer Eye Institute of the University of Miami Miller School of Medicine, has pioneered a novel technological treatment for Leber Hereditary Optic ...

Ophthalmology created Apr 23, 2012 | popularity not rated yet | comments 0

Hot on the trail of metabolic diseases and resistance to antibiotics

Proteins belonging to the large and important family of ABC transporters have been associated with metabolic diseases and can cause resistance to antibiotics. Biochemists from the University of Zurich and the NCCR Structural ...

Medical research created Mar 28, 2012 | popularity not rated yet | comments 0

Researchers discover molecular basis of autistic symptoms in children with rare bone disorder

Children with multiple hereditary exostoses (MHE), an inherited genetic disease, suffer from multiple growths on their bones that cause pain and disfigurement. But beyond the physical symptoms of this condition, ...

Diseases, Conditions, Syndromes created Mar 12, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Fasudil bypasses genetic cause of spinal birth defect

Scientists from the Ottawa Hospital Research Institute (OHRI) and the University of Ottawa (uOttawa) have discovered that a drug called fasudil can extend the average lifespan of mice with Spinal muscular ...

Diseases, Conditions, Syndromes created Mar 06, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Study finds new genes that cause Baraitser-Winter syndrome, a brain malformation

Scientists from Seattle Children's Research Institute and the University of Washington, in collaboration with the Genomic Disorders Group Nijmegen in the Netherlands, have identified two new genes that cause Baraitser-Winter ...

Genetics created Feb 29, 2012 | popularity not rated yet | comments 0 | with audio podcast

Study tracks down cause of birth defect

A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease.

Medical research created Feb 13, 2012 | popularity not rated yet | comments 0 | with audio podcast

'ROCK' off: Study establishes molecular link between genetic defect and heart malformation

UNC researchers have discovered how the genetic defect underlying one of the most common congenital heart diseases keeps the critical organ from developing properly. According to the new research, mutations ...

Genetics created Feb 06, 2012 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Drug approved to treat cystic fibrosis' root cause

The first drug that treats the root cause of cystic fibrosis won approval Tuesday, offering a life-changing treatment for a handful of patients with the deadly illness and broader hope for thousands more patients with the ...

Medications created Jan 31, 2012 | popularity 5 / 5 (1) | comments 0

Study finds two genes affect anxiety, behavior in mice with too much MeCP2

The anxiety and behavioral issues associated with excess MeCP2 protein result from overexpression of two genes (Crh [corticotropin-releasing hormone] and Oprm 1 [mu-opioid receptor MOR 1]), which may point the way to treating ...

Genetics created Jan 08, 2012 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Scientists discover a brain cell malfunction in schizophrenia

Scientists at The Scripps Research Institute have discovered that DNA stays too tightly wound in certain brain cells of schizophrenic subjects.

Psychology & Psychiatry created Dec 28, 2011 | popularity 4.9 / 5 (11) | comments 3 | with audio podcast

Brain and heart link may explain sudden death in Rett

Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.

Medical research created Dec 14, 2011 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

Childhood cancer survivors' exposure to chemotherapy, radiation does not increase risk of birth defects in their childre

A large, retrospective study shows that children of childhood cancer survivors who received prior treatment involving radiation to testes or ovaries and/or chemotherapy with alkylating agents do not have an increased risk ...

Cancer created Dec 12, 2011 | popularity not rated yet | comments 0

Babies born with no eyes: Scientists identify genetic cause

Scientists at University College Dublin, Ireland, have identified a genetic alteration which causes a child to be born with no eyes – a condition called anophthalmia.

Genetics created Dec 12, 2011 | popularity not rated yet | comments 0 | with audio podcast

One for you, one for me: Researchers gain new insight into the chromosome separation process

Each time a cell divides -- and it takes millions of cell divisions to create a fully grown human body from a single fertilized cell -- its chromosomes have to be accurately divvied up between both daughter ...

Genetics created Nov 17, 2011 | popularity not rated yet | comments 0 | with audio podcast