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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
R. Rodney Howell receives ASHG’s annual Advocacy Award

R. Rodney Howell receives ASHG’s annual Advocacy Award

The American Society of Human Genetics (ASHG) has named R. Rodney Howell, MD, Professor in the Department of Pediatrics, Chairman Emeritus of Pediatrics, and Member of the Hussman Institute for Human Genomics, at the University of Miami Leonard M. Miller School of Medicine, as the first recipient of its new, annual Advocacy Award. [More]
Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

Study offers potential ways to preserve muscle mass and strength for people in low-resistance environments

It is well known that muscles need resistance (gravity) to maintain optimal health, and when they do not have this resistance, they deteriorate. A new report published in the July 2015 issue of The FASEB Journal, however, suggests that this might not be true for all muscles, offering hope that there may be ways to preserve muscle mass and strength for individuals in low-resistance environments, whether it be the microgravity of space, extended periods in a hospital bed, or a 9-5 job behind a desk. [More]
Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award. [More]

SHIFT Communications expands healthcare practice

SHIFT Communications, the leader in data-driven public relations and communications, today announced the expansion of its healthcare practice. Since January, SHIFT's healthcare practice has grown its revenue nearly 30 percent and expanded not only the team, but the diversity of the clientele they serve – moving beyond health information technology (IT) to sectors ranging from digital health to the life sciences. [More]
Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 study in children with SMA

Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 study in children with SMA

Isis Pharmaceuticals, Inc. today provided an update on children with spinal muscular atrophy (SMA) who have completed the open-label, Phase 2 multiple-dose study of ISIS-SMN Rx and are continuing to receive treatment in an open-label extension (OLE) study. [More]
Cosmetic surgery could improve lives of people with facial paralysis

Cosmetic surgery could improve lives of people with facial paralysis

A cosmetic surgery that uses injections of hyaluronic acid to make lips appear fuller could also improve the lives of people with facial paralysis, according to results of a small study by researchers at Johns Hopkins and Stanford universities. [More]
Australian researchers discover gene involved in muscular dystrophy

Australian researchers discover gene involved in muscular dystrophy

Australian researchers have made a critical discovery about a gene involved in muscular dystrophy that could lead to future therapies for the currently untreatable disease. [More]
Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 clinical study in infants with Type I SMA

Isis Pharmaceuticals provides update on ISIS-SMN Rx Phase 2 clinical study in infants with Type I SMA

Isis Pharmaceuticals, Inc. today provided an update on its ongoing open-label Phase 2 clinical study of ISIS-SMN Rx in infants with Type I spinal muscular atrophy (SMA). [More]
FE65 and FE65L1 proteins may become therapeutic target for muscular dystrophy, cataracts and Alzheimer's

FE65 and FE65L1 proteins may become therapeutic target for muscular dystrophy, cataracts and Alzheimer's

Amyloid precursor protein (APP), a key protein implicated in the development Alzheimer's disease, may play an important role in eye and muscle health. In a new report published in the June 2015 issue of The FASEB Journal, scientists have discovered that when proteins that bind to the APP, called FE65 and FE65L1, are deleted, they cause cataracts and muscle weakness in mice. [More]
Scientists uncover role of HTRA3 protease in Cockayne syndrome

Scientists uncover role of HTRA3 protease in Cockayne syndrome

Scientists from the Institut Pasteur and CNRS, in collaboration with scientists from the Institut Gustave Roussy and CEA, have succeeded in restoring normal activity in cells isolated from patients with the premature aging disease Cockayne syndrome. They have uncovered the role played in these cells by an enzyme, the HTRA3 protease. [More]
Vitamin E helps build strong muscles

Vitamin E helps build strong muscles

Body builders have it right: vitamin E does help build strong muscles, and scientists appear to have figured out one important way it does it. [More]
TGen-led study associates 'X-linked' syndromes to genetic origins

TGen-led study associates 'X-linked' syndromes to genetic origins

A study led by the Translational Genomics Research Institute has for the first time matched dozens of infantile diseases and syndromes involving muscle weakness and stiff joints to their likely genetic origins. [More]
GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

GTEx findings reveal how genomic variants can affect gene activity and disease susceptibility

Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. [More]
Parents share arduous, circuitous journey to get referrals for childhood epilepsy surgery

Parents share arduous, circuitous journey to get referrals for childhood epilepsy surgery

Having a child diagnosed with epilepsy can be a frightening and confusing time. Now, parents share their arduous and "circuitous" journey to get referrals for pediatric epilepsy surgery once their child's disease stops responding to anti-seizure medications. The UCLA study sheds light on the difficulties parents face obtaining specialty and sub-specialty care for their children during an already stressful time. [More]

aTyr's Resolaris granted FDA Orphan Drug Designation for treatment of FSHD

aTyr Pharma, a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today that Resolaris has been granted Orphan Drug Designation by the U.S. Food and Drug Administration for the treatment of facioscapulohumeral muscular dystrophy (FSHD). [More]
Joseph Roche receives grant to develop improved exercise programs for people with dysferlinopathies

Joseph Roche receives grant to develop improved exercise programs for people with dysferlinopathies

The Wayne State University Eugene Applebaum College of Pharmacy and Health Sciences today announced that Joseph Roche, assistant professor for the physical therapy program in the Department of Health Care Sciences, received a one-year, $100,000 grant from the Jain Foundation for "Developing a Multi-Pronged Strategy for the Clinical Management of Dysferlinopathies," a project that seeks to develop better exercise programs for people with dysferlinopathies, or dysferlin-linked muscular dystrophies. [More]
University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

University of Washington receives PPMD grant to continue analysis of spectrin-like repeats in dystrophin

Parent Project Muscular Dystrophy, a nonprofit organization leading the fight to end Duchenne muscular dystrophy (Duchenne) awarded University of Washington a $148,000 grant to continue the functional analysis of spectrin-like repeats in dystrophin. [More]
TGen scientists discover the likely cause of rare type of muscle weakness in six children

TGen scientists discover the likely cause of rare type of muscle weakness in six children

Scientists at the Translational Genomics Research Institute (TGen), using state-of-the-art genetic technology, have discovered the likely cause of a child's rare type of severe muscle weakness. [More]

New study opens door to preventative treatments for congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is not as well known as muscular dystrophy and cystic fibrosis, but like them it is a life-threatening birth defect, and is just as common. Occurring in one in 3,000 births, CDH causes the guts and liver to protrude through a defective diaphragm and into the chest cavity, where they interfere with the lungs. [More]
UVA researcher identifies potential therapeutic target for myotonic muscular dystrophy

UVA researcher identifies potential therapeutic target for myotonic muscular dystrophy

A doctor who was one of the discoverers of the gene responsible for myotonic muscular dystrophy has now identified a therapeutic that could modify progression of muscle damage and muscle dysfunction associated with the disease - issues that cause patients significant disability and deterioration in quality of life. [More]
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