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The connection between heart and nerves in a rare disease

Updated: Jan 16, 2020

by Amy Hicks

The Cox Lab at the Jackson Laboratory is part of less than a handful of research groups worldwide working on a rare form of Spinal Muscular Atrophy called SMARD1. This video gives a basic introduction to this disease as well as an overview of the research goals of a postdoctoral researcher in the Cox Lab, Amy Hicks, who is studying the relationship between the heart and nerves in this devastating genetic disease.

Related Resources

Learn more about SMARD from the NIH's Genetics Home Reference

Find great resources and information about SMARD and other types of Spinal Muscular Atrophy from SMA News Today

Scientific References

Identification of the Mouse Neuromuscular Degeneration Gene and Mapping of a Second Site Suppressor Allele. Cox et al 1998.

Transgenic rescue of neurogenic atriphy in the nmd mouse reveals a role for Ighmbp2 in dilated cardiomyopathy. Maddatu et al 2004.

Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival. Maddatu et al 2005.

#heart #cardiac #disease #neuroscience #neurobiology

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