The Basics of Autism Spectrum Disorders and the Genetic Link - Webinar - Ambry Genetics

Explore the fundamentals of Autism Spectrum Disorders (ASD) and their genetic connections in this 42-minute webinar presented by Dr. Julie Neidich, MD. Gain insights into the ASD triad, inheritance patterns, and recurrence risks. Discover various diagnostic strategies, including Fragile X analysis, Microarray, and Clinical Diagnostic Exome. Learn about autosomal dominant and recessive inheritance, genetic and environmental influences, epigenetics, and the impact of diagnosis. Benefit from Dr. Neidich's extensive clinical experience and personal interest in autism spectrum disorders as she shares her expertise as a board-certified pediatrician and medical geneticist with over 20 years of experience.

Intro
LEARNING OBJECTIVES
THE BASICS
THE ASD TRIAD
AUTISM IS A SPECTRUM
AUTOSOMAL DOMINANT INHERITANCE
AUTOSOMAL RECESSIVE INHERITANCE
GENETIC AND ENVIRONMENTAL INFLUENCE
GENES INVOLVED
EPIGENETICS, WHAT IS THIS?
WHAT IS RECURRENCE RISK?
RECURRENCE RISK BASICS
PROPOSED ASD DIAGNOSTIC STRATEGY
FRAGILE X EXAMPLES
Array CGH: The Complete Process
16p11.2 microduplication syndrome
WHAT IS THE EXOME?
WHAT IS EXOME SEQUENCING?
IMPACT OF DIAGNOSIS
CONCLUSION