The 91̽�� and 91̽��Medicine announced today that , 91̽��professor of medicine, Division of  Medical Genetics and of genome sciences, will receive the 2014 Lasker-Koshland Special Achievement Award in Medical Science. The award is one of the most prestigious scientific prizes. The Special Achievement Award recognizes exceptional leadership and citizenship in biomedical science. The award will be presented Sept. 19 in New York City.

The foundation is honoring King for “bold, imaginative and diverse contributions to medical science and human rights. … Her work has touched families around the world.”

King is a world leader in cancer genetics and in the application of genetics to resolution of human rights abuses. She was the first to demonstrate that a genetic predisposition for breast cancer exists, as the result of inherited mutations in the gene she named BRCA1. More recently she has devised with Tom Walsh, 91̽��associate professor of medical genetics, a scheme to screen for all genes that predispose to breast and ovarian cancers.

She has applied her genetics expertise to aid victims of human rights violations around the world. Beginning in the 1980s, King helped to find children in Argentina taken from their families during the military regime of the late 1970s and early 1980s. She developed an approach based on mitochondrial DNA sequencing that led to the reunion of more than 100 children with their families.

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More details on the Lasker Award recipients, the full citations for each award category, video interviews and photos of the awardees, and additional information on the foundation are available at .

A class of drugs used to treat anxiety and epileptic seizure reduces some autistic behaviors in mice, when given in low, non-sedating doses.  These findings point to the possibility of testing a new therapeutic approach to managing autism in people. The findings are reported in the March 19 issue of the CELL journal Neuron.

William Catterall, 91̽��chair and professor  of pharmacology, is senior author of  the research paper.

“These are very exciting results because they suggest that existing drugs, called benzodiazepines, might be useful in treatment of the core deficits in autism,” he said

These deficits include repetitive behaviors and difficulty relating to others. The condition is often accompanied by specific learning problems. Catterall explained that a particular, well-studied strain of mice acts in ways that resemble these autistic traits.  Scientists are interested in their brain chemistry.

Normally, inhibitory nerve cells in the brain send chemical signals that put the brake on excitatory nerve cells. Research indicates that the strain of mice with autistic behaviors have lower activity of inhibitory neurons and higher activity of excitatory neurons in the brain. In the study, scientists restored the balance with low, nonsedating doses of benzodiazipine.

“Our results provide strong evidence that increasing inhibitory neurotransmission is an effective approach to improvement of social interactions, repetitive behaviors, and cognitive deficits in a well-established autism animal model that has some similar behavioral features as human autism,” Catterall said.

Read at the new site for the 91̽��Health Sciences and 91̽��Medicine news.

on the research.

Preclinical studies show that gene therapy can improve muscle strength in small- and large-animal models of a fatal congenital childhood disease know as X-linked myotubular myopathy.

The findings, appearing  as the in the January 22, 2014 issue of Science Translational Medicine, also demonstrate the feasibility of future clinical trials of gene therapy for this devastating disease.

Watch a by Brian Donohue on this study.

Researchers at the  91̽��,   in France, , and in Blacksburg, Va., conducted the study.

The study was based on seminal work on local and systemic administration in a mouse model of the disease performed by Anna Buj-Bello, at ��é��é�ٳ�Dz� since 2009. The UW’s Martin K. Childers, working with Buj-Bello and Beggs groups, tested gene therapy using an engineered adenovirus vector, created by ��é��é�ٳ�Dz�. The vector carries a replacement MTM1 gene.

They used two animal models: mice with an engineered MTM1 mutation and dogs carrying a naturally occurring MTM1 gene mutation. These mutant animals appear very weak with shortened lifespans, similar to patients with myotubular myopathy.

The scientists found that both mice and dogs responded to a single intravascular injection of an adenovirus vector engineered for gene replacement therapy, produced at ��é��é�ٳ�Dz�. The treated animals had robust improvement in muscle strength, corrected muscle structure at the microscopic level, and prolonged life. No toxic or immune response was observed in the dogs.

These results demonstrate the efficacy of gene replacement therapy for myotubular myopathy in animal models and pave the way to a clinical trial in patients.

Children born with X-linked myotubular myopathy, which affects about 1 in 50,000 male births, have very weak skeletal muscles, causing them to appear floppy. They also have severe respiratory difficulties. Survival beyond birth requires intensive support, often including tube feeding and mechanical ventilation, but effective therapy is not available for patients, and most die in childhood.

Alan H. Beggs of Boston Children’s Hospital, co-senior author on the paper, has studied the mutated gene, known as MTM1, for many years and previously showed that replacing missing myotubularin protein effectively improved MTM muscles’ ability to contract.

“The implications of the pre-clinical findings are extraordinary for inherited muscular diseases,” said Childers, co-senior author on the paper, and co-principal investigator of the study with  Buj-Bello and  Beggs. “Two of our dogs treated with AAV gene therapy appear almost normal with little, if any, evidence, even microscopically, of disease caused by XLMTM.” Childers is a 91̽��professor of rehabilitation medicine and a regenerative medicine researcher.

“These results are the culmination of four years of research and show how gene therapy is effective for this genetic muscle disease,” said Buj-Bello. “We finally can envision a clinical trial in patients. These are very promising results for future trials in humans. ”

Robert W. Grange, Virginia Tech associate professor of human nutrition, foods and exercise, and Virginia Tech graduate student Jon Doering provided expertise to demonstrate the dramatic rescue of muscle function in the treated dogs. “The functional improvement was truly remarkable,” said Grange. “It is both incredibly exciting and humbling to contribute to such a meaningful project – a true highlight of our careers.”

The study was funded by the Association Francaise contre les Myopathies, the Muscular Dystrophy Association, Myotubular Trust, Genopole d’Evry, INSERM, Region d’Alsace, the Anderson Family Foundation,  the Joshua Frase Foundation,  Where There’s a Will There’s a Cure Foundation, and the  Peter Khuri Fund for Myopathy Research. National Institute of Health grants P50 N5040828, R01 AR044345, R21 AR 064503, AR 0659750 and Ro1 HL115001 also funded the work.