Nemaline Myopathy News and Research

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Harvard's Catherine Brownstein's Multi-Omics Approach: A New Horizon for Understanding Rare Pediatric Disorders

Catherine Brownstein, MPH, PhD, an esteemed Assistant Professor at Harvard Medical School and an investigator at Boston Children's Hospital.

From Society for Laboratory Automation and Screening (SLAS) 6 Mar 2024

Molecular mechanisms play key role in the development of healthy heart

It might look like a little game at the molecular scale.Filament-like proteins in heart muscle cells have to be exactly the same length so that they can coordinate perfectly to make the heart beat.

14 Oct 2020

New study focuses on promise of gene therapy for Amish nemaline myopathy

A new comprehensive natural history study about Amish nemaline myopathy in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder.

14 Aug 2018

New research offers crucial step towards understanding cause of myopathy

Pioneering research using the tropical zebrafish could provide new insights into the genetic basis of myopathy, a type of human muscle disease.

6 Jul 2017

Researchers unlock structural details of key protein to treat neuromuscular disease

Researchers at Rice University and Baylor College of Medicine have unlocked the structural details of a protein seen as key to treating a neuromuscular disease.

30 Sep 2015

Health supplement hope for child muscle disease

A health supplement used by bodybuilders could be the key to treating a life-threatening muscular dystrophy affecting hundreds of Australian children, new research shows.

14 Nov 2011

Research finds alteration in KBTBD13 protein causes nemaline myopathy

Researchers from the Department of Anesthesiology, Uniformed Services University of the Health Sciences (USU), along with research teams from the National Institutes of Health and from Australia, the Netherlands and Spain, have identified a novel gene on chromosome 15q that, when altered, causes nemaline myopathy with cores, a rare inherited muscle disorder. The gene encodes a member of the BTB/Kelch family of proteins.

30 Nov 2010

New findings shed light on how genetic damage to muscle cell proteins can lead to nemaline myopathy

New findings that shed light on how genetic damage to muscle cell proteins can lead to the development of the rare muscle-wasting disease, nemaline myopathy, are reported today (15 March) in the Biochemical Journal.

15 Mar 2010

NYU professor conducts genetic screening at academic campuses in Boston

Dr. Harry Ostrer, professor of pediatrics, pathology and medicine at NYU Langone Medical Center will be conducting genetic screening at four college campuses in Boston on February 1st and 2nd. Individuals interested in being screened should sign- up online at www.med.nyu.edu/genetics.

28 Jan 2010

Massive microRNA scan uncovers leads to treating muscle degeneration

Researchers have discovered the first microRNAs - tiny bits of code that regulate gene activity - linked to each of 10 major degenerative muscular disorders, opening doors to new treatments and a better biological understanding of these debilitating, poorly understood, often untreatable diseases.

18 Oct 2007