News tagged with genetic defect

Related topics: genes , gene therapy




Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Genetics created Aug 26, 2012 | popularity not rated yet | comments 0 | with audio podcast

Manipulating the microbiome could help manage weight

Vaccines and antibiotics may someday join caloric restriction or bariatric surgery as a way to regulate weight gain, according to a new study focused on the interactions between diet, the bacteria that live in the bowel, ...

Immunology created Aug 26, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Study of zebra fish mouth formation may speak to Fraser syndrome hearing loss

Using mutant zebra fish, researchers studying the earliest formation of cartilage of the mouth believe they may have gotten a look at a mechanism involved in a genetic defect linked to Fraser syndrome deafness in humans.

Genetics created Jul 31, 2012 | popularity not rated yet | comments 0 | with audio podcast

Gene therapy holds promise for reversing congenital hearing loss

A new gene therapy approach can reverse hearing loss caused by a genetic defect in a mouse model of congenital deafness, according to a preclinical study published by Cell Press in the July 26 issue of the journal Neuron. The fi ...

Neuroscience created Jul 25, 2012 | popularity 4 / 5 (3) | comments 0 | with audio podcast

European court urged not to accredit Down's syndrome tests

Groups supporting people with Down's syndrome on Thursday called on the European Court of Human Rights not to recognise the right to tests that would detect the condition before birth.

Other created Jun 28, 2012 | popularity 4 / 5 (1) | comments 0

New compound holds promise for treating Duchenne MD, other inherited diseases

Scientists at UCLA have identified a new compound that could treat certain types of genetic disorders in muscles. It is a big first step in what they hope will lead to human clinical trials for Duchenne muscular dystrophy.

Genetics created Jun 27, 2012 | popularity not rated yet | comments 0

New mouse model helps explain gene discovery in congenital heart disease

Scientists now have clues to how a gene mutation discovered in families affected with congenital heart disease leads to underdevelopment of the walls that separate the heart into four chambers. A Nationwide Children's Hospital ...

Genetics created Jun 26, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Prenatal genetic test offers more information, raises questions

The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.

Genetics created Jun 20, 2012 | popularity not rated yet | comments 0

Brain cell activity imbalance may account for seizure susceptibility in Angelman syndrome

New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental ...

Neuroscience created Jun 06, 2012 | popularity not rated yet | comments 0 | with audio podcast

Mutations impair childhood growth and development by disrupting organization of chromosome pairs

Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins ...

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

Protein inhibitor points to potential medical treatments for skull and skin birth defects

Researchers at Mount Sinai School of Medicine in New York have found new clues in the pathogenesis of skull and skin birth defects associated with a rare genetic disorder, Beare-Stevenson cutis gyrata syndrome (BSS). Using ...

Pediatrics created May 15, 2012 | popularity not rated yet | comments 0 | with audio podcast

Vitamin K2: New hope for Parkinson's patients?

Neuroscientist Patrik Verstreken, associated with VIB and KU Leuven, succeeded in undoing the effect of one of the genetic defects that leads to Parkinson's using vitamin K2. His discovery gives hope to Parkinson's patients. ...

Parkinson's & Movement disorders created May 11, 2012 | popularity not rated yet | comments 0

Evolution's gift may also be at the root of a form of autism

A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study by Yale University researchers ...

Genetics created May 10, 2012 | popularity 3.5 / 5 (2) | comments 2 | with audio podcast

Researchers pinpoint genetic pathway of rare facial malformation in children

Researchers at Seattle Children's Research Institute and their collaborators have discovered a pair of defective genes that cause a rare congenital malformation syndrome that can make it impossible for the ...

Pediatrics created May 03, 2012 | popularity 5 / 5 (1) | comments 0 | with audio podcast

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