Genetics and Genetic Testing 101: Pedigrees, Penetrance, and Purgatory

May 6, 2019 | Katrina Sorensen, Research Coordinator | @katrinasorensen

Genetics101

Are you pursuing a career in cardiology and your genetic knowledge isn't where you want it to be? Have you or a family member been diagnosed with a genetic heart rhythm disorder and your looking for more in-depth knowledge on the subject?

Below, Dr. Michael J. Ackerman, a genetic cardiologist at Mayo Clinic, presents a 50 minute lecture on Genetics and Genetic Testing 101. The lecture, created for practicing cardiologists, other health care providers and trainees who take care of patients with heart disease, has been designed to refresh and improve your basic knowledge of genetics and genetic testing.

Main learning objectives:

  1. Recognize the various modes of inheritance
  2. Differentiate between genetic penetrance and expressivity
  3. Categorize the various types of disease-susceptibility mutations
  4. Judge whether or not a single nucleotide polymorhism (SNP) is a disease-causing missense mutation or background genetic noise
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