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Research:
Searching for Strength: One gene at a time
Interactive Animation
Children's Interactive
The laboratory of Alan Beggs, PhD, is studying a group of rare disorders known as the congenital myopathies, which cause muscle weakness, sometimes so severe that children cannot breathe on their own. The lab has identified several genes causing these disorders, each affecting muscle contraction in a different way. This interactive feature lets you explore how a muscle contracts, and, using the example of nemaline myopathy, what happens when some of these genes are mutated. It shows that there are many paths to muscle weakness -- and even to nemaline myopathy, just one of several congenital myopathies studied in the Beggs lab. On the final screen, Beggs discusses congenital myopathy research in a video interview.
nemeline rods

Microscopic pictures of nemaline rods in muscle from a patient with nemaline myopathy. At left, the rods are seen as dark blue structures in this light microscope picture of myofibers cut in cross section. At high power (right) using an electron microscope, the rods are seen in longitudinal section, and are shown to form from disordered sarcomeres (contractile units).

Read more about Beggs' research on the congenital myopathies, and about other rare disorders studied at The Manton Center for Orphan Disease Research.
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