Many human diseases are associated with mutations or variations in genetic sequences. Some of these genetic variants are heritable, passed down from generation to generation, while others arise sporadically during an organism’s life and cause diseases such as cancer. Researchers are trying to identify and characterize these genetic alterations in the hopes of improving diagnosis and therapeutic options for patients.
In this video, we will examine the history of genetic disease research, and explore key questions asked by medical geneticists. Various tools used to identify the genetic basis of diseases are then discussed, including genotyping techniques and genome-wide association studies (GWAS). Finally, several current examples of medical genetics research are presented.
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Many human diseases have a genetic component, meaning that they are caused by variations or mutations in an individual’s DNA. Heritable genetic diseases are those that can be passed down from generation to generation, but not all genetic diseases are heritable, including many types of cancer. By discovering and characterizing disease-associated genes, scientists and clinicians are hoping to improve diagnostics and therapies for patients.This video will present a brief history of genetic diseases, introd…