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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.
Common gene mutation may cause brain damage associated with ALS and FTD

Common gene mutation may cause brain damage associated with ALS and FTD

Johns Hopkins researchers say they have discovered some of the first steps in how a very common gene mutation causes the brain damage associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). [More]
New iPS cell model provides clear drug target for treatment of DMD

New iPS cell model provides clear drug target for treatment of DMD

Duchenne muscular dystrophy (DMD) is a muscular disease that shows symptoms in early childhood and causes progressive atrophy and eventual death. There is little in terms of treatment, partly because of poor understanding of how DMD develops, although it is known that abnormal expression of the protein dystrophin is at fault. [More]
Muscle mass appears to ward off bad cardiovascular effects of obesity

Muscle mass appears to ward off bad cardiovascular effects of obesity

Even without losing fat, more muscle appears to go a long way in fighting off the bad cardiovascular effects of obesity. That emerging evidence has scientists looking hard for new targets to uncouple the unhealthy relationship between fat and cardiovascular disease. [More]
New technology advances genome engineering

New technology advances genome engineering

In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon. It's a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering. [More]
Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Johns Hopkins researchers discover role of TDP-43 protein in autopsy brain cells of patients with ALS

Autopsies of nearly every patient with the lethal neurodegenerative disorder amyotrophic lateral sclerosis (ALS), and many with frontotemporal dementia (FTD), show pathologists telltale clumps of a protein called TDP-43. Now, working with mouse and human cells, Johns Hopkins researchers report they have discovered the normal role of TDP-43 in cells and why its abnormal accumulation may cause disease. [More]
Lund University researchers discovered 'main switch' that regulates cell invaginations

Lund University researchers discovered 'main switch' that regulates cell invaginations

Lack of microinvaginations in the cell membrane, caveolae, can cause serious diseases such as lipodystrophy and muscular dystrophy. Researchers at Lund University in Sweden have now discovered a "main switch" that regulates the formation of these invaginations. [More]
Necrotising autoimmune myopathy requires early, aggressive treatment

Necrotising autoimmune myopathy requires early, aggressive treatment

Researchers call for the prompt recognition of necrotising autoimmune myopathy and aggressive early treatment with a combination of intravenous immune globulin, corticosteroids and a steroid-sparing agent for 3 months. [More]
Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

For the first time, researchers have employed a gene-editing technique involving low-dose irradiation to repair patient cells, according to a study published in the journal Stem Cells Translational Medicine. This method, developed by researchers in the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is 10 times more effective than techniques currently in use. [More]
Scientists report new way to mimic the body's natural approach to programming stem cells to treat muscular dystrophy

Scientists report new way to mimic the body's natural approach to programming stem cells to treat muscular dystrophy

Stem cells hold great potential for addressing a variety of conditions from spinal cord injuries to cancer, but they can be difficult to control. Scientists are now reporting in the journal ACS Nano a new way to mimic the body's natural approach to programming these cells. [More]
Isis Pharmaceuticals receives $2.15 million milestone payment to advance ISIS-SMN Rx study in children with SMA

Isis Pharmaceuticals receives $2.15 million milestone payment to advance ISIS-SMN Rx study in children with SMA

Isis Pharmaceuticals, Inc. announced today that it has earned a $2.15 million milestone payment from Biogen related to advancing the ongoing pivotal Phase 3 study (CHERISH) evaluating ISIS-SMN Rx in children with spinal muscular atrophy (SMA). [More]
Study finds gene linked to age-related obesity, diabetes

Study finds gene linked to age-related obesity, diabetes

Practically everyone gets fatter as they get older, but some people can blame their genes for the extra padding. Researchers have shown that two different mutations in a gene called ankyrin-B cause cells to suck up glucose faster than normal, fattening them up and eventually triggering the type of diabetes linked to obesity. [More]
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]
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