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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

Date of Release:  September 19, 2018
Expiration Date:  September 19, 2021

Estimate Time of Completion: 1 hour

Course must be completed by the expiration date

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.


Continuing Education Information:


The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Credit Designation:

The American College of Medical Genetics and Genomics designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


ACMG follows the ACCME policy on Content Validation for CME activities, which requires: a)All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients. b)  All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.


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: Retired
Cost: ACMG Member: $15.00
Non-Member: $55.00
Postdoc/Trainee (M): $15.00
Postdoc/Trainee (NM): $55.00
Student (M): $15.00
Student (NM): $55.00
Credit Offered:
No Credit Offered

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