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New understanding of how noise can break critical tip link protein structure in inner ear cells

Researchers have mapped the precise 3-D atomic structure of a thin protein filament critical for cells in the inner ear and calculated the force necessary to pull it apart.

8 Nov 2012

New UTSW model can predict progression of skin cancer in patients

UT Southwestern Medical Center scientists led by Dr. Sean Morrison, director of the Children's Medical Center Research Institute at UT Southwestern, have developed an innovative model for predicting the progression of skin cancer in patients.

8 Nov 2012

Ion AmpliSeq Community Panels from Life Technologies

Life Technologies Corporation today announced Ion AmpliSeq Community Panels, a community-driven solution to gene panel sequencing that leverages the expertise of scientific thought leaders and the Ion Community to create gene panels for conditions ranging from cancer to inherited diseases.

7 Nov 2012

Alpha-herpesvirus axon-to-cell spread involves limited virion transmission

New research suggests that just one or two individual herpes virus particles attack a skin cell in the first stage of an outbreak, resulting in a bottleneck in which the infection may be vulnerable to medical treatment.

7 Nov 2012

Studies shake up Alzheimer’s hypotheses

Two studies in people at genetic risk for Alzheimer’s disease reveal very early changes in brain structure and function that may actually precede amyloid beta deposition.

6 Nov 2012

Genetic testing valuable in determining etiology for childhood hearing loss

Genetic testing for a certain mutation in pediatric patients is valuable in determining a cause for unexplained hearing loss, according to a study in the November 2012 issue of Otolaryngology-Head and Neck Surgery.

6 Nov 2012

Chromosome 22q11.2 deletion syndrome anxiety linked to poorer adaptive behaviors

UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as self-care and communication skills, that affect daily life. The developmental syndrome, which is associated with a constellation of physical, cognitive and psychiatric problems, usually is apparent at birth or early childhood, and leads to lifelong challenges.

6 Nov 2012

John Wiley & Sons launches Molecular Genetics & Genomic Medicine

John Wiley & Sons, Inc., today announced the launch of Molecular Genetics & Genomic Medicine (MGGM), a new Wiley Open Access journal. Under the leadership of Editor-in-Chief Dr. Maximilian Muenke, the journal will provide rapid dissemination of high-quality research in all areas of human, medical and molecular genetics.

6 Nov 2012

Combination of mosquito nets and deltamethrin does not lead to decline in malaria

Some develop resistance. Others alter their behaviour. Mosquitoes of the genus Anopheles, the vectors of malaria, always find a way to foil human attempts to protect themselves from this disease. Researchers from the IRD and their partners have revealed their great capacity for adaptation, which weakens the strategies to combatting their presence, recommended by the WHO.

6 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Scientists encourage genetic data sharing

Incomplete access to private databases containing vital genetic information may hinder the development of personalized medicine, say researchers.

5 Nov 2012

New insight on ability of certain PAH-derived lesions to evade DNA repair machinery

A person doesn't have to go far to find a polycyclic aromatic hydrocarbon (PAH). These carcinogen precursors are inhaled through automobiles exhaust during the morning commute, are present in a drag of cigarette smoke, and are part of any barbequed meal.

4 Nov 2012

Lomitapide shows promise in treating homozygous familial hypercholesterolemia

An international effort led by researchers at the Perelman School of Medicine at the University of Pennsylvania has resulted in positive phase 3 clinical trial results for a new medicine to treat patients suffering from a rare and deadly cholesterol disorder.

3 Nov 2012

Studies show standardizing computer programs help improve genetic testing for Lynch Syndrome

Many patients who have genetic testing for Lynch syndrome, a hereditary predisposition to colon cancer, receive the inconclusive result "variants of uncertain clinical significance."

3 Nov 2012

Imatinib mesylate effectively treats children with neurofibromatosis type 1 tumors

Physician-researchers at Indiana University School of Medicine have reported the first effective therapy for a class of previously untreatable and potentially life-threatening tumors often found in children.

2 Nov 2012

XJB-5-131 compound suppresses symptoms of Huntington's in mice

There's new hope in the fight against Huntington's disease. A group of researchers that includes scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) have designed a compound that suppresses symptoms of the devastating disease in mice.

2 Nov 2012

Fluidigm unveils four innovative devices to meet challenges associated with production genomics

Fluidigm Corporation today introduced four new integrated fluidic circuits (IFCs) designed to meet the challenges associated with production genomics.

2 Nov 2012

Study describes role of TFIIB protein in helping cells repair DNA damage

In a new study, University at Buffalo scientists describe the role that a protein called TFIIB plays in helping cells repair DNA damage, a critical function for preventing the growth of tumors.

2 Nov 2012

High blood cholesterol far more common than previously recognized

High blood cholesterol, a serious hereditary disease, is far more common than previously recognised and not treated sufficiently.

2 Nov 2012

Nitisinone treatment effectively prevents tyrosinemia in children

A consortium of Quebec researchers coordinated by the Medical Genetics Service of the Sainte-Justine UHC has just published the findings of a 25-year study on the treatment of tyrosinemia, a life-threatening liver disease of genetic origin, which is screened at birth in the province of Quebec, where it is much more frequent than anywhere else in the world.

1 Nov 2012