Genetic News and Research

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Researchers identify cancer-associated mutations

Two new mutations that collectively occur in 71 percent of malignant melanoma tumors have been discovered in what scientists call the "dark matter" of the cancer genome, where cancer-related mutations haven't been previously found.

25 Jan 2013

Genome sequencing data gives important clues on cancer

Genome sequencing data once regarded as junk is now being used to gain important clues to help understand disease.

25 Jan 2013

Mount Sinai sets up new center for treating tic and obsessive-compulsive disorders

Mount Sinai has officially opened a new center to treat and research tic and obsessive-compulsive disorders (OCD) in individuals of all ages. The opening coincides with a significant revision in the psychiatry field's manual of mental disorders, which will now recognize OCD with its own category, rather than classifying it as an anxiety disorder.

25 Jan 2013

Findings could help explain prevalence of urinary tract infections in post-menopausal women

Researchers from Washington University School of Medicine, St. Louis, show that reservoirs of uropathogenic E. coli within the bladder exist in higher numbers post-menopause than pre-menopause in a mouse model, a finding that could help explain the greater prevalence of urinary tract infections in post-menopausal women.

25 Jan 2013

Study highlights the need for more targeted antibiotic therapy in cancer patients

What cancerous conditions lead to what kinds of bacterial infections? If doctors knew, they could predict which patients would likely benefit from pre-treatment with certain kinds of antibiotics.

25 Jan 2013

Researchers find new genetic differences in human hearts

Healthy men and women show little difference in their hearts, except for small electrocardiographic disparities. But new genetic differences found by Washington University in St. Louis researchers in hearts with disease could ultimately lead to personalized treatment of various heart ailments.

25 Jan 2013

Researchers to develop new diagnostic tools and treatments for people with rare diseases

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale.

25 Jan 2013

Clinical trial to evaluate cyclodextrin against Niemann-Pick disease type C1

A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced.

24 Jan 2013

Research team describes how the brain controls whisker movements in mice

All parents know the infant milestones: turning over, learning to crawl, standing, and taking that first unassisted step. Achieving each accomplishment presumably requires the formation of new connections among subsets of the billions of nerve cells in the infant's brain. But how, when and where those connections form has been a mystery.

24 Jan 2013

NIH panel recommends name change for polycystic ovary syndrome

An independent panel convened by the National Institutes of Health has concluded that the name of a common hormone disorder in women, polycystic ovary syndrome (PCOS), causes confusion and is a barrier to research progress and effective patient care. The current name focuses on a criterion - ovarian cysts - which is neither necessary nor sufficient to diagnose the syndrome.

24 Jan 2013

Mice with reduced caloric intake accumulate longer telomeres

One of the indicators of a cell's health is the state of its DNA and containers-the chromosomes-so when these fuse together or suffer anomalies, they can become the source of illnesses like cancer and/or ageing processes.

23 Jan 2013

World Cancer Day to focus on awareness and prevention, importance of research

Cancer takes the lives of some 7.6 million people worldwide each year, according to the World Health Organization. And while the upcoming World Cancer Day will focus on a global message of cancer awareness and prevention, the importance of cancer research also will resonate.

23 Jan 2013

KLF6-SV1 gene variant drives the spread of breast cancer

A team of researchers led by Goutham Narla, MD, PhD, at Case Western Reserve University School of Medicine and University Hospitals Case Medical Center, and collaborators at the Mount Sinai School of Medicine and Erasmus Medical Center, have discovered a gene variant that drives the spread of breast cancer.

23 Jan 2013

Scientists identify consistent epigenetic signatures in men with metastatic prostate cancer

In a genome-wide analysis of 13 metastatic prostate cancers, scientists at the Johns Hopkins Kimmel Cancer Center found consistent epigenetic "signatures" across all metastatic tumors in each patient.

23 Jan 2013

Salk Institute to establish Helmsley Center for Genomic Medicine

The Salk Institute for Biological Studies has received a $42 million gift-the largest in the Institute's history-to establish the Helmsley Center for Genomic Medicine (HCGM), a research center dedicated to decoding the common genetic factors underlying many complex chronic human diseases.

23 Jan 2013

Novartis receives FDA approval for Exjade to treat chronic iron overload in NTDT patients

The U.S. Food and Drug Administration today expanded the approved use of Exjade (deferasirox) to treat patients ages 10 years and older who have chronic iron overload resulting from a genetic blood disorder called non-transfusion-dependent thalassemia (NTDT).

23 Jan 2013

Researchers pinpoint several inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. Researchers at Boston Children's Hospital have pinpointed several inherited mutations—among the first to be identified—through an unusual approach: using whole-exome sequencing to study large Middle Eastern families with autism.

23 Jan 2013

SMO and AKT1 mutations appear to drive about 15% of meningiomas

Large-scale genomic sequencing has revealed two DNA mutations that appear to drive about 15 percent of brain tumors known as meningiomas, a finding that could lead to the first effective drug treatments for the tumors, report scientists from Dana-Farber Cancer Institute and the Broad Institute.

23 Jan 2013

Novel way to engineer specialized immune cells targeted by the AIDS virus

Researchers at the Stanford University School of Medicine have found a novel way to engineer key cells of the immune system so they remain resistant to infection with HIV, the virus that causes AIDS.

23 Jan 2013

SV Bio, Mayo Clinic partner on whole genome diagnostics and interpretation

Mayo Clinic and Silicon Valley Biosystems (SV Bio) today announced a strategic collaboration for whole genome diagnostics and interpretation at the Mayo Clinic Center for Individualized Medicine and Mayo Medical Laboratories.

23 Jan 2013