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Research identifies 6 critical deafness-related mutations in Israeli Jewish, Palestinian Arab families

Precise diagnosis of disease and developmental syndromes often depends on understanding the genetics underlying them. Most cases of early onset hearing loss are genetic in origin but there are many different forms. Heretofore, it has been difficult to identify the gene responsible for the hearing loss of each affected child, because the critical mutations differ among countries and populations.

14 Sep 2011

New imaging method could better assess extent of nerve damage

A new imaging technique could help doctors and researchers more accurately assess the extent of nerve damage and healing in a live patient. Researchers at Laval University in Qu-bec and Harvard Medical School in Boston aimed lasers at rats' damaged sciatic nerves to create images of the individual neurons' insulating sheath called myelin.

14 Sep 2011

Computer models that predict response to treatment

Details of computer models that can predict the chances of a patient responding to their HIV drugs with 80% accuracy are published today in the journal AIDS. The models were developed by the HIV Resistance Response Database Initiative (RDI) using almost half a million pieces of data from approximately 6,000 clinical cases from hundreds of clinics around the world. The models are now available online as part of an experimental treatment support tool, HIV-TRePS.

14 Sep 2011

UB transgenic mouse model of Timothy Syndrome improves understanding of autism

The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions and treatments.

12 Sep 2011

Women with BRCA gene mutations at risk of developing cancers at earlier ages

A new analysis has found that women who develop certain hereditary cancers develop them at earlier ages than women in the previous generation. Published early online in CANCER, a peer-reviewed journal of the American Cancer Society, the results point to the importance of tracking younger ages of cancer diagnosis to determine when to provide counseling, screening, and treatment services.

12 Sep 2011

Women with BRCA gene mutation develop breast cancer earlier than their ancestors

Women with a deleterious gene mutation are diagnosed with breast cancer almost eight years earlier than relatives of the previous generation who also had the disease and/or ovarian cancer, according to new research from The University of Texas MD Anderson Cancer Center.

12 Sep 2011

New treatment strategy for dominant forms of muscular dystrophy

Investigators at The Research Institute at Nationwide Children's Hospital are studying a potential new treatment strategy for dominant forms of muscular dystrophy, thanks to preliminary funding from The Ohio State University Center for Clinical and Translational Science.

12 Sep 2011

Common genetic variant may predispose people to acute dissections

Richard Holbrooke, John Ritter, Lucille Ball, Jonathan Larson and Great Britain's King George II were all taken by the same silent killer: an acute aortic dissection. Now, scientists led by researchers at The University of Texas Health Science Center at Houston and Baylor College of Medicine have found an association with a common genetic variant in the population that predisposes people to acute dissections and can approximately double a person's chances of having the disease.

12 Sep 2011

WSU researcher receives $418,000 NINDS grant to study spinal muscular atrophy

Graham Parker, Ph.D., assistant professor of research in the Department of Pediatrics at Wayne State University's School of Medicine, was awarded $418,000 from the National Institute of Neurological Disorders and Stroke of the National Institutes of Health to study how a particular gene might be involved in the progression of spinal muscular atrophy (SMA) - the number one genetic killer of children younger than 2 years old.

12 Sep 2011

Novel solution for purifying stem cell mixtures

Stem cells show great potential to enable treatments for conditions such as spinal injuries or Lou Gehrig's disease, and also as research tools. One of the greatest problems slowing such work is that researchers have found major complications in purifying cell mixtures, for instance to remove stem cells that can cause tumors from cells developed for use in medical treatments.

9 Sep 2011

Study identifies genes never before linked to antibiotic resistance in enterococci

An analysis of the genome of a superbug has yielded crucial, novel information that could aid efforts to counteract the bacterium's resistance to an antibiotic of last resort.

9 Sep 2011

Scientists discover new gene mutation responsible for late-onset Parkinson's

Less than two months after publishing findings about a new gene linked to late-onset Parkinson's disease, the same team of scientists at the University of British Columbia and Vancouver Coastal Health Research Institute have discovered another gene responsible for the neurodegenerative disease - providing yet another target for potential treatments.

9 Sep 2011

HJF selects three promising USU doctoral students to receive 2011-12 fellowships

The Henry M. Jackson Foundation for the Advancement of Military Medicine, Inc. has selected three promising Uniformed Services University of the Health Sciences (USU) doctoral students to receive fellowships for the 2011-12 academic year.

9 Sep 2011

ATA announces five recipients of 2011 thyroid cancer research grants

The American Thyroid Association (ATA) announced the five recipients of its 2011 research grants, each of whom will receive up to $25,000 annually for up to two years. Three of the five recipients were awarded special ATA ThyCa grants for research projects that focus on thyroid cancer. These grants are funded by ThyCa: Thyroid Cancer Survivors, Inc.

8 Sep 2011

APS sponsors 7th International Symposium on Aldosterone and the ENaC/Degenerin Family of Ion Channels

The American Physiological Society is sponsoring the 7th International Symposium on Aldosterone and the ENaC/Degenerin Family of Ion Channels, being held September 18-22 at the Asilomar Conference Grounds in Pacific Grove, Calif. This scientific conference explores the connection between fluid balance in the body and hypertension, a growing global health concern.

8 Sep 2011

Researchers identify new genetic cause of inherited Parkinson's disease

A large team of international researchers have identified a new genetic cause of inherited Parkinson's disease that they say may be related to the inability of brain cells to handle biological stress.

8 Sep 2011

Breast cancer patients with BRCA1 mutation experience pCR after neoadjuvent chemotherapy

Nearly half of breast cancer patients carrying the BRCA1 gene mutation experience a complete pathological response (pCR) - the disappearance of all evidence of disease from the breast tissue and lymph nodes - regardless of disease stage after standard neoadjuvent chemotherapy, according to new research from The University of Texas MD Anderson Cancer Center.

7 Sep 2011

Walnuts may prevent breast cancer

A new study has found that eating a handful of walnuts on a regular basis may reduce women’s risk of developing breast cancer. Researchers from the Marshall University observed in mice that consuming 2 ounces of walnuts each day reduced the growth of breast cancer tumors.

6 Sep 2011

Biologists identify mechanism of H. pylori that damages DNA of gastric mucosal cells

The stomach bacterium Helicobacter pylori is one of the biggest risk factors for the development of gastric cancer, the third most common cause of cancer-related deaths in the world.

6 Sep 2011

Researchers discover novel way to increase amounts of antibiotics

A novel way of increasing the amounts of antibiotics produced by bacteria has been discovered that could markedly improve the yields of these important compounds in commercial production. It could also be valuable in helping to discover new compounds. With the ever-growing threat from antibiotic resistance, these tools will be very useful in ensuring that we have enough of these useful compounds in the future.

5 Sep 2011