Mutation News and Research

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Novel mutation in gene encoding ankyrin-B increases risk of type 2 diabetes

Alterations in our response to the taste or smell of food may be another culprit responsible for Type 2 diabetes, according to scientists at Duke University Medical Center who have identified the specific mechanism in human specimens and in mice.

12 Mar 2010

TGen, Virginia G. Piper Cancer Center and Side-Out Foundation team up for breast cancer study

Many women live with breast cancer that does not respond to standard medical treatment, a condition that researchers at the Virginia G. Piper Cancer Center at Scottsdale Healthcare want to change by aggressively targeting specific genes.

12 Mar 2010

Tel Aviv University investigates cause and effects of SCA syndrome

Sudden Cardiac Arrest syndrome (SCA) is poorly understood, but it's a real danger for the otherwise young and healthy. For no apparent reason, the heart suddenly stops beating, and without treatment death may follow within minutes. It's why some athletes drop dead on the track and why a young man, without any warning, suddenly dies while sitting at his desk.

11 Mar 2010

Whole genome sequencing of entire family beneficial

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website. It demonstrates the benefit of sequencing entire families, including lowering error rates, identifying rare genetic variants and identifying disease-linked genes.

11 Mar 2010

ISB uses Complete Genomics’ service to sequence genomes of four family members suffer from Miller syndrome

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology employed Complete Genomics’ human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family’s sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.

11 Mar 2010

Scientists identify specific causative genetic mutation associated with CMT

Scientists using advanced genomic analysis technologies from Life Technologies Corporation have sequenced an individual’s genome and identified the specific causative mutation associated with Charcot-Marie-Tooth Disease (CMT), one of the most common inherited neurological disorders currently affecting 1 in 2,500 individuals in the United States.

11 Mar 2010

Genetic mutation in African-American men with family history of prostate cancer discovered

Shahriar Koochekpour, MD, PhD, Assistant Professor of Microbiology and Immunology, Biochemistry and Molecular Biology, and Genetics at LSU Health Sciences Center New Orleans, led research that has discovered, for the first time, a genetic mutation in African-American men with a family history of prostate cancer who are at increased risk for the disease.

11 Mar 2010

First use of prenatal MRI to detect often-misdiagnosed CCD

In a case believed to be a United States first, the radiology team at Lucile Packard Children's Hospital has used prenatal magnetic resonance imaging to detect an often-misdiagnosed genetic disease.

10 Mar 2010

Genetic basis unknown in many children with mental retardation and developmental delays

Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder.

10 Mar 2010

ITCH gene causes multisystem autoimmune disorder

The gene for a newly recognized disease has been identified thanks to the determination of an Amish father and the clinical skills and persistence of Indiana University and Riley Hospital for Children physicians in collaboration with physicians and researchers at the Clinic for Special Children in Lancaster County, Penn., which specializes in disorders of the Amish.

9 Mar 2010

DermaGenoma releases The HerpesDX Genetic Test for Frequent Genital Herpes

Molecular dermatology research and development innovator DermaGenoma, Inc. today released The HerpesDX Genetic Test for Frequent Genital Herpes. The new screening test will help doctors assess patients’ risk for developing frequent Genital Herpes (HSV-2) outbreaks.

9 Mar 2010

Alzheimer's prevention initiative: Shared risks and shared rewards

The field is abuzz with the word "prevention," but how to pull off this vaunted goal? It's been held back by a strange Catch-22 of cost, time, and biomarker validation. That might change with a bold initiative led by Eric Reiman, Pierre Tariot, and others at the Banner Alzheimer's Institute. For the past two years, they have been laying the groundwork for what they hope will be an era of collaborative prevention research of shared risks and shared rewards.

6 Mar 2010

NAF to hold third annual Ataxia Investigators Meeting in Rosemont

The National Ataxia Foundation, in conjunction with the University of Chicago program in pathobiology and translational neuroscience, will hold its third annual Ataxia Investigators Meeting March 9-11, 2010, at the Hyatt Regency O'Hare, in Rosemont, Ill. A three-day meeting for patients, caregivers and families will follow at the same location.

6 Mar 2010

Phase 1 clinical study of ISIS-SOD1Rx in patients with Lou Gehrig's disease commenced

Isis Pharmaceuticals, Inc. announced today that it has initiated a Phase 1 study of ISIS-SOD1Rx in patients with an inherited, aggressive form of Lou Gehrig's disease also known as familial amyotrophic lateral sclerosis (ALS).

5 Mar 2010

Life Technologies, TGen, US Oncology collaborate to sequence genomes of triple negative breast cancer patients

Life Technologies Corporation today announced that it is collaborating with the Translational Genomics Research Institute and US Oncology to sequence the genomes of 14 patients afflicted with triple negative breast cancer whose tumors have progressed despite multiple other therapies.

5 Mar 2010

Endothelial cells can produce copious amounts of adult stem cells: Study

In a leap toward making stem cell therapy widely available, researchers at the Ansary Stem Cell Institute at Weill Cornell Medical College have discovered that endothelial cells, the most basic building blocks of the vascular system, produce growth factors that can grow copious amounts of adult stem cells and their progeny over the course of weeks.

5 Mar 2010

HMS study suggests new targets for treating Angelman syndrome

Angelman Syndrome is a rare but serious genetic disorder that causes a constellation of developmental problems in affected children, including mental retardation, lack of speech, and in some cases, autism. Over a decade ago, researchers found that AS was caused by mutation in a single gene, but no one had been able to explain how this defect resulted in the debilitating neurological symptoms of the disease.

5 Mar 2010

Gene involved in susceptibility and resistance to TB identified

University of Washington researchers have identified a gene involved in susceptibility and resistance to tuberculosis. This same gene, they have found, has a role in the severity of leprosy, which is caused by a related pathogen. The researchers also have learned why this gene is important for susceptibility.

5 Mar 2010

Scientists discover genetic cause of Quebec Platelet Disorder

For some Canadians, any cut such as from dental work or surgery can cause days or more of bleeding. Although they are not hemophiliacs, for some an ordinary bruise can balloon into the size of an orange.

4 Mar 2010

Study shows inhibiting critical genes may halt leukaemia cell growth

An international team of scientists studying acute forms of Leukaemia have identified a new drug target to inhibit the genes which are vital for the growth of diseased cells.

4 Mar 2010