Case Study: Harvard Medical School-Partners HealthCare Center for Genetics and Genomics

A "eureka moment" in the lab for Drs. Kricket and Jon Seidman.
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"The finding was rather like a birth announcement," Seidman says. "We knew something good was going to happen down the road, but we didn't know precisely what."

After years of "brute force" work at Harvard Medical School, Christine (a.k.a. Kricket) and Jon Seidman made a stunning discovery. They found that all affected members of two families with cardiomyopathy carried a mutation in a gene encoding myosin heavy chain. When expressed, the gene's product works to contract muscles. That breakthrough led to the discovery of more genetic culprits, including cardiac troponin T and alpha tropomyosin, which also function in contraction. The genes encode proteins that also function in contraction.

"At that point, we said, 'Oh, I get it,'" Kricket Seidman recalls. "These are all parts of the muscle contractile apparatus."

And that commonality also pointed to the killer: a genetic problem that leads to patients' inability to properly contract their heart muscles.

"The finding was rather like a birth announcement," Seidman says. "We knew something good was going to happen down the road, but we didn't know precisely what."

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