Mayo Clinic's Windland Smith Rice Sudden Death Genomics Laboratory has made a new discovery!

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Jan 16, 2020 | Katrina Sorensen, Research Coordinator | @katrinasorensen

Photo credit: Post Bulletin/Joe Ahlquist (jahlquist@postbulletin.com)

We at Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic are proud to announce that the Windland Smith Rice Sudden Death Genomics Laboratory published a new discovery in the journal JAMA Cardiology!

As many of you know, Dr. Ackerman is constantly performing research studies to further our understanding of genetic heart rhythm diseases. If you've had an appointment with him in the Windland Smith Rice Genetic Heart Rhythm Clinic, you were probably asked to participate in a research study yourself. Research takes years, sometimes decades, to come to fruition. But the results can be lifesaving.

This recent discovery is exactly that. Fifteen years after an Amish family lost their first of eventually four daughters to sudden cardiac death, an answer was finally found. A duplication of over 300,000 nucleotides in the RYR2 gene, a gene responsible for Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), was causing what the family eventually began referring to as "the curse of sudden death".

For more information, check out these articles:

• CNN: No one knew why the kids in 2 Amish families were dying suddenly. Now researchers have some answers
• Post Bulletin: A deadly DNA mystery, solved

See our Genomics Laboratory tab for more information on current research studies being performed in the Windland Smith Rice Sudden Death Genomics Laboratory. Check out the Heart Rhythm Conditions group to join discussions and read other people's opinions with genetic heart rhythm disorders.