Enzyme replacement therapy shows promising results in X-linked myotubular myopathy

University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.

A team of researchers at the Medical College of Wisconsin and Children's Hospital of Wisconsin Research Institute defined a new treatment for a potentially fatal lung disease in patients with a primary immunodeficiency known ...

Current research suggests laminin, a protein that helps cells stick together, may lead to enhanced muscle repair in muscular dystrophy. The related report by Rooney et al, "Laminin-111 restores regenerative capacity in a ...

Treatments that ramp up production of the tiny "motors" that power cells may have promise for treating one of the most common forms of inherited neuromuscular disease, according to a report in the September Cell Metabolism, a Cell ...

Researchers have cleared a safety hurdle in efforts to develop a gene therapy for a form of muscular dystrophy that disables patients by gradually weakening muscles near the hips and shoulders.

Women with a family history of breast cancer, or with breast cancer themselves, are likely cheering the June 12 ruling by the U.S. Supreme Court, which found that patents granted to Myriad Genetics Inc. for ...

Methylation refers to a chemical modification of DNA and this modification can occur in millions of positions in the DNA sequence. Until now, scientists believed that this epigenetic phenomenon actively reduced the expression ...

Aspirin is known to lower risk for some cancers, and a new study led by a UC San Francisco scientist points to a possible explanation, with the discovery that aspirin slows the accumulation of DNA mutations in abnormal cells ...

A study by researchers at Skaggs School of Pharmacy and Pharmaceutical Sciences and the Department of Pharmacology at the University of California, San Diego, shows that a protein called MCL-1, which promotes cell survival, ...

Adenoid cystic carcinoma (ACC) is a slow-growing and often fatal malignancy that can occur at multiple organ site, but is most frequently found in the salivary glands. The primary treatment is surgical removal; however, the ...

(HealthDay)—Two new studies offer some solace to those who can't control their weight despite diet and exercise by providing more evidence that genetics may play a role in obesity.