Clinical Genomics in 2022- From Testing to Treatment
Explore the latest advancements in clinical genomics through this comprehensive physician grand rounds presentation. Gain insights into common indications for genetic testing in both pediatric and adult patients, and understand its role during the pandemic. Delve into mitochondrial genome sequencing, pretest counseling, and the limitations of genetic testing. Examine the effectiveness of whole exome sequencing through real patient cases. Discover cutting-edge treatments for genetic diseases, including exon skipping for Duchenne Muscular Dystrophy, ocular gene therapy, and groundbreaking gene therapies for Spinal Muscular Atrophy. Learn about single patient trials and ongoing gene therapy clinical trials to stay at the forefront of genomic medicine in 2022.