Emery Dreifuss Muscular Dystrophy News and Research

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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.

10 Apr 2015

Professor receives $1.3M EUREKA grant to explore communication between cytoplasm and nucleus

University of Massachusetts Medical School Professor and Vice Chair of Neurobiology Vivian Budnik, PhD, has received a four-year, $1.3 million EUREKA (Exceptional Unconventional Research Enabling Knowledge Acceleration) grant from the National Institute of Neurological Disorders and Stroke to explore a novel mechanism of communication between the cytoplasm and the nucleus, called nuclear envelope budding, that may lead to new understandings for various tissue dystrophies and aging disorders.

8 Oct 2013

Study offers new hope to patients suffering from laminopathies

Laminopathies are hereditary diseases that affect mainly the muscle tissue. These diseases include for example Emery-Dreifuss Muscular dystrophy, dilated cardiomyopathy, limb-girdle muscular dystrophy and Hutchison-Gilford progeria syndrome.

7 May 2013

New findings could help develop treatments for inherited disorders

Fresh insights into the protective seal that surrounds the DNA of our cells could help develop treatments for inherited muscle, brain, bone and skin disorders.

27 Feb 2013

Rapamycin improves function and extends survival in mice with DCM and rare muscular dystrophies

Rapamycin, an immunosuppressant drug used in a variety of disease indications and under study in aging research labs around the world, improved function and extended survival in mice suffering from a genetic mutation which leads to dilated cardiomyopathy (DCM) and rare muscular dystrophies in humans.

26 Jul 2012

Reducing levels of SUN1 protein increases life span of mice with progeria, heart disease

Scientists have discovered that they can dramatically increase the life span of mice with progeria (premature ageing disease) and heart disease (caused by Emery-Dreifuss muscular dystrophy) by reducing levels of a protein called SUN1.

30 Apr 2012

BioTime to market muscle progenitor cell lines bearing hereditary diseases

BioTime, Inc. today announced that it has elected to market progenitors of muscle stem cells bearing hereditary diseases. BioTime will produce the products from five human embryonic stem (hES) cell lines from Reproductive Genetics Institute (RGI) of Chicago, Illinois.

4 Jan 2012

How loss or mutation of LMNA gene causes Emery-Dreifuss muscular dystrophy

Mutations in the nuclear intermediate filament lamin A/C (LMNA) gene are associated with Emery-Dreifuss muscular dystrophy, but cause the disease by unknown mechanisms.

5 Jan 2009

Genetics of human muscular dystrophy

Various forms of human muscular dystrophy result from mutations in genes encoding proteins of the nuclear envelope. A new paper in the February 15th issue of G&D reveals how.

17 Feb 2006