Spinal Muscular Atrophy (SMA)

SMA — Lisa Baumbach, Ph.D.

MDA has awarded a research grant totaling $387,228 over three years to Lisa Baumbach, associate professor in the departments of neurology, pediatrics and biochemistry at the Miller School of Medicine at the University of Miami. The funds will help Baumbach continue to search for disease-causing genes responsible for infantile (either X-linked or type 1) spinal muscular atrophy (SMA).

SMA Research Briefs: New Gene ID'd, Disease Modifier Explored

Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells (motor neurons) that control muscles in the spinal cord die, causing progressive weakness in the voluntary muscles.   

Decision Making About PGD Is Complex, Study Finds

Decision making about preimplantation genetic diagnosis (PGD) is a complex, multiphase process for couples, a new study has found. Understanding it, the investigators say, may be helpful to prospective parents who know they're at risk for transmitting a genetic disorder, and to the professionals who advise them.

SMA: RG3039 Proves Safe in Phase 1 Trial

Update (June 21, 2012):This story was updated to include the fact that MDA funding helped support the phase 1 trial, as well as the preclinical development of RG3039.

Neuromuscular Disease Research Discussed at 2012 AAN Meeting

Top scientists and clinicians from around the world are discussing the latest research in neuroscience, and the care of individuals with nerve and muscle diseases, at the 2012 annual meeting of the American Academy of Neurology in New Orleans, April 21-28.

MDA 2012 Conference Report: Targeted Therapies

The progress of several experimental therapies currently in development for neuromuscular diseases was discussed at MDA's 2012 Clinical Conference, held in Las Vegas March 4-7.

SMA Disease Course May Be Affected by ZPR1

Adequate levels of zinc finger protein 1 (ZPR1) appear to be a "protective" modifier of spinal muscular atrophy (SMA), an MDA-supported team of scientists has reported.

Modifiers influence disease onset and severity by changing various biological pathways.

The identification of ZPR1 as a modifier reveals a potential target for therapy development and also sheds light on the mechanisms that drive SMA.

MDA 2012 Conference Report: Genetics and Immunology Update

More than 500 physicians, allied health care professionals and MDA staff attended the MDA's 2012 Clinical Conference in Las Vegas, March 4-7.

The program emphasized:

SMA Research Briefs: Antisense and Fasudil

Below are highlights of two recent studies in spinal muscular atrophy (SMA), a disease in which the nerve cells that control muscles (motor neurons) in the spinal cord die, causing progressive weakness in the voluntary muscles.

Under the Sea

Destiny has been drawing since age 3.  She has served as a local Goodwill Ambassador for several years.  Her hobbies include fishing, reading and swimming.

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