Muscular Dystrophy News and Research RSS Feed - Muscular Dystrophy News and Research

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.
MGH researchers identify gene mutations linked to rare congenital condition involving lack of nose

MGH researchers identify gene mutations linked to rare congenital condition involving lack of nose

Researchers from Massachusetts General Hospital led a large, international research team that has identified gene mutations associated with a rare congenital condition involving the absence of a nose and often accompanied by defects involving the eye and reproductive systems. [More]
Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy. [More]
UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

UNC Catalyst aims to provide knowledge and research tools to tackle rare diseases

Freely giving researchers the tools and knowledge to tackle rare and orphaned diseases is the mission of UNC Catalyst, a new endeavor the University of North Carolina at Chapel Hill has launched with a $2 million grant from the Eshelman Institute for Innovation. [More]
Researchers find striking differences between countries, age groups in access to proper care for DMD

Researchers find striking differences between countries, age groups in access to proper care for DMD

Duchenne muscular dystrophy (DMD), a progressive muscle disease affecting one in 3800-6300 live male births and leads to ambulatory loss, respiratory problems, cardiomyopathy, and early death of patients in their 20s or 30s. [More]
Study reports volume and cost of in-home care for children with special medical conditions

Study reports volume and cost of in-home care for children with special medical conditions

U.S. families provide nearly $36 billion annually in uncompensated medical care at home to children who have special health care needs, such as muscular dystrophy and cystic fibrosis, according to a large national study. [More]
Study tracks parents' unpaid time assisting children with special health care needs

Study tracks parents' unpaid time assisting children with special health care needs

About half of U.S. children with special health care needs -- 5.6 million children -- receive medical care from uncompensated family members worth billions of dollars, finds a large national study led by Boston Children's Hospital and the University of Southern California (USC). [More]
Ionis announces FDA approval of first SMA drug in the U.S for pediatric and adult patients

Ionis announces FDA approval of first SMA drug in the U.S for pediatric and adult patients

Ionis Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration has approved SPINRAZATM (nusinersen) under Priority Review for the treatment of spinal muscular atrophy (SMA) in pediatric and adult patients. [More]
MDA celebrates FDA approval of new spinal muscular atrophy drug

MDA celebrates FDA approval of new spinal muscular atrophy drug

The Muscular Dystrophy Association today celebrated news of the U.S. Food and Drug Administration's decision to grant approval for nusinersen (brand name Spinraza), the first disease-modifying drug to treat the most common genetic cause of death in infants. [More]
TSRI scientists develop new methods to design precision medicines against disease-causing RNAs

TSRI scientists develop new methods to design precision medicines against disease-causing RNAs

Scientists on the Florida campus of The Scripps Research Institute have developed broad methods to design precision medicines against currently incurable diseases caused by RNA. [More]
Cedars-Sinai receives $7.3 million grant to test safety of novel cell-based therapy in treating PAH

Cedars-Sinai receives $7.3 million grant to test safety of novel cell-based therapy in treating PAH

Researchers from the Cedars-Sinai Heart Institute and the Cedars-Sinai Department of Medicine are expanding their ongoing evaluation of a novel cell-based therapeutic candidate into the area of pulmonary arterial hypertension (PAH). [More]
New drug treatment can override genetic fault that causes choroideremia

New drug treatment can override genetic fault that causes choroideremia

Researchers with funding from Fight for Sight have demonstrated that a new drug treatment for cystic fibrosis and Duchenne muscular dystrophy can override a genetic fault that causes choroideremia – a severe blinding disorder. [More]
Research provides new insight into how diseases that disconnect brain and body occur

Research provides new insight into how diseases that disconnect brain and body occur

A huge colony of receptors must be optimally positioned and functioning on our muscle cells for our brains to talk with our bodies so we can walk and breathe. [More]
ASGCT seeks to educate public and policy-makers on fundamentals of gene editing

ASGCT seeks to educate public and policy-makers on fundamentals of gene editing

On Nov. 21, 2016, the American Society of Gene & Cell Therapy released Therapeutic Gene Editing: an ASGCT White Paper, intended to provide policy-makers, patient advocates, and the interested public with the necessary background information in anticipation of an upcoming consensus report on human gene editing from the National Academy of Sciences and National Academy of Medicine (NAS), expected to be released in early 2017. [More]
FDA approval of controversial drug for Duchenne muscular dystrophy raises concern and hope

FDA approval of controversial drug for Duchenne muscular dystrophy raises concern and hope

In September, the Food and Drug Administration approved Exondys, a controversial treatment for Duchenne muscular dystrophy based on tenuous data from just 12 patients. [More]
Fight for Sight, Thomas Pocklington collaborate to fund new neuro-ophthalmology research

Fight for Sight, Thomas Pocklington collaborate to fund new neuro-ophthalmology research

Retinal activity in autism, ADHD and Duchenne muscular dystrophy [More]
Home non-invasive ventilation for COPD: an interview with Dr Holger Woehrle

Home non-invasive ventilation for COPD: an interview with Dr Holger Woehrle

The key symptom of COPD is breathlessness, especially during daily activity, and the breathlessness is in addition to cough and chest tightness. The difficulty in managing this disease is that it's a disease that progresses with age. [More]
Immune system plays important role in Duchenne muscular dystrophy, research reveals

Immune system plays important role in Duchenne muscular dystrophy, research reveals

A new paper, co-written by faculty at Binghamton University, State University of New York, increases the understanding of Duchenne muscular dystrophy (DMD)—one of the most common lethal genetic disorders—and points to potential therapeutic approaches. [More]
First comprehensive center opened in Tri-State area to mark new era in care of DMD patients

First comprehensive center opened in Tri-State area to mark new era in care of DMD patients

Nearly 1,000 boys in the New York Tri-State area have been diagnosed with Duchenne Muscular Dystrophy (DMD) and, until now, had to travel out of the state for comprehensive care. [More]
Department of Defense funds cardiac cell therapy trial for heart failure patients

Department of Defense funds cardiac cell therapy trial for heart failure patients

Building on the results of a recent Cedars-Sinai Heart Institute study published just six months ago, the Department of Defense has awarded a $10 million grant to fund a cardiac cell therapy trial for patients diagnosed with a common but difficult-to-treat form of heart failure. [More]
CUMC researchers uncover new details of intracellular channel that controls skeletal muscle

CUMC researchers uncover new details of intracellular channel that controls skeletal muscle

Using high-resolution electron microscopy, Columbia University Medical Center researchers have uncovered new details of the structure and function of an intracellular channel that controls the contraction of skeletal muscle. [More]
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