Course : ACMG Genomics Case Conference September 2018

New Disease Gene Discoveries – Genetic and Functional Evidence

Hosted by Baylor College of Medicine

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During the ACMG Genomics Case Conferences, a team from Baylor College of Medicine, will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

 Session Description

Multiple lines of evidence are needed to convince us that variants in genes not yet known be human disease genes are truly causative. In this webinar, clinical geneticists, molecular geneticists, and basic science researchers outline paths for novel disease gene discovery. They take learners on an interactive journey, showcasing how thorough clinical assessment and whole exome sequencing are the basis of novel disease gene discovery. They will then go on to illustrate how in vitro functional assays can provide evidence that allow us to better understand the variants’ pathogenicity.

Target audience
a. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
b. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Educational Credit
Date of Release: September 19, 2018
Expiration Date: September 19, 2021
Estimate Time of Completion: 1 hour
Credit Offered: CME

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Registration and Fees

ACMG Member and ACMG Trainee (no credits) - free
Non-members- No Credits Available ($30) 
ACMG Member with educational credits ($15)
Non-members with educational credits ($55)


At the conclusion of this session, participants should be able to:

1. Prioritize genetic and functional evidence to better understand disease-gene relationships.
2. Name a database that provides evidence for disease-gene relationships.
3. Elaborate on the ABL1 gene and its role in two entirely different genetic disorders.

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