Mutation News and Research

RSS

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

Researchers reveal new details of the mechanisms of ion channel inactivation

Two studies by researchers at The Johns Hopkins University School of Medicine reveal new details of the mechanisms of ion channel inactivation. The papers appear in the March issue of The Journal of General Physiology (www.jgp.org).

4 Mar 2010

Belatacept drug can prevent graft rejection in kidney transplant recipients

The experimental drug belatacept can prevent graft rejection in kidney transplant recipients while better preserving kidney function when compared with standard immunosuppressive drugs, data from two international phase III clinical trials show.

4 Mar 2010

Gene 'addiction' of leukaemia cells

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. The research, reported in EMBO Molecular Medicine, reveals how leukaemia cells become 'addicted' to genes, which if targeted could prevent diseased cells from developing.

3 Mar 2010

MJFF for Parkinson's Research awards $500,000 grant to neuroscientist at Mayo Clinic

For his work contributing to a potential new treatment approach for Parkinson's disease, the Michael J. Fox Foundation for Parkinson's Research has awarded a $500,000 grant to a neuroscientist at the Mayo Clinic campus in Florida.

3 Mar 2010

Combination of two targeted therapies effective against subset of gastric cancers: Study

A combination of two targeted therapies already shown to be effective in breast cancer packs an effective one-two punch against a subset of gastric cancers that have a specific genetic mutation, a study at UCLA's Jonsson Comprehensive Cancer Center has found.

3 Mar 2010

Supercomputer receives powerful supercomputer for biomedical and life sciences research from IBM

Rice University and IBM today unveiled a new high-performance computing initiative for biomedical and life sciences research that features one of the most powerful supercomputers in the Texas Medical Center. Rice scientists will use the supercomputer in collaboration with researchers from across the medical center to study cancer, AIDS and other complex diseases.

2 Mar 2010