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View Only- New Disease Gene Discoveries – Genetic and Functional Evidence
Hosted by Baylor College of Medicine
About this course
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.
Course Description

Learning objectives

At the conclusion of the series, participants should be able to:

  1. Describe the clinical utility of whole exome/whole genome sequencing tests
  2. Identify clinical indications for whole exome/whole genome sequencing
  3. List determinants used to assess the probability of a variant’s pathogenicity
  4. Elaborate on the importance of pre-test counseling and consent

Session learning objectives

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.
  4. Discuss how in vitro assays can be used to provide additional information on variant pathogenicity, using ABL1 and TRAF7 as examples.



Planning Committee

Monica Giovanni, MS, CGC

Geisinger Health System, Brookline, MA

Nothing to disclose


Anne Slavotinek, MB.BS., PhD, FACMG


Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health, Royalties: Oxford University Press, UptoDate


John Bernat, MD, PhD

University of Iowa

Disclosures: Receives grant/research support from Sanofi Genzyme, Shire and Protalix


Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Michael Watson, PhD, FACMG


Presenter and Disclosures


Xia Wang, PhD

Visiting Assistant Professor, Department of Molecular and Human Genetics, Baylor College of Medicine

Disclosures: Stockholder/Ownership Interest: AiLife Diagnostics, Inc.


Chun-An Chen, PhD

Clinical Postdoctoral Fellow, Molecular and Human Genetics, Baylor College of Medicine

Nothing to disclose


Christian P. Schaaf, MD, PhD, FACMG

Professor, University of Cologne, Institute of Human Genetics

Disclosures: Royalties/Honoraria: Springer



Availability: On-Demand
Cost: ACMG Member: $0.00
Non-Member: $30.00
Postdoc/Trainee (M): $0.00
Postdoc/Trainee (NM): $30.00
Student (M): $0.00
Student (NM): $30.00
Credit Offered:
No Credit Offered

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