The course aims to provide an understanding of common indications for genetic testing, including pediatric and adult indications, genetics in a pandemic, and mitochondrial genome sequencing. It covers topics such as pretest counseling, limitations of genetic testing, and the overall yield of whole exome sequencing. The course also discusses treating genetic diseases like Duchenne Muscular Dystrophy, with a focus on genetics, exon skipping, and the efficacy of treatments like Eteplirsen. Additionally, it explores ocular gene therapy, spinal muscular atrophy gene therapy, and gene therapy clinical trials. The teaching method involves a lecture format with a duration of 50 minutes. The intended audience includes healthcare professionals, clinicians, geneticists, and individuals interested in clinical genomics and genetic testing.
Overview
Syllabus
Intro
Objectives • Understand common indications for genetic testing
Why genetic testing?
Most common pediatric indications
Most common adult indications
Genetics in a pandemic
MITOCHONDRIAL GENOME SEQUENCING
Pretest counseling
ACMG 73
Limitations of genetic testing
Whole exome sequencing Overall yield: - 1/3 of cases solved
2 year old patient
Patient outcome
Treating genetic diseases
Duchenne Muscular Dystrophy
DMD - genetics
Exon skipping . Common type of pathogenic variant
Eteplirsen efficacy
Single patient trials
Ocular Gene Therapy
First Gene Therapy Approved
Spinal Muscular Atrophy Gene Therapy
Gene Therapy Clinical Trials
Summary
Taught by
Mary Greeley Medical Center
