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Short Courses

Two half-day short course will be held on Tuesday, April 13, 2021 from 12:00 PM - 5:00 PM.  These courses are each focused on one particular topic and allow participants an additional opportunity to accrue CME and CEUs. An additional registration fee is required, see the table below for fees.

ABMGG Lifelong Learning and Self-Assessment (Part II)
ABMGG diplomates must demonstrate involvement in continuing education as part of the Lifelong Learning and Self-Assessment (Part II) requirement of the ABMGG Continuing Certification (Maintenance of Certification) program. The ABMGG has approved participation in the two short courses listed below as alternative activities for the ABMGG literature review modules. Successful completion of a short course, including participation in the evaluation component, enables the participant to earn a certificate of completion for submission to the ABMGG.


A Clinician’s Perspective on Obesity: Syndromic and Non-Syndromic Causes, Treatment and Challenges

Obesity is highly prevalent in the USA and frequently associated with increased healthcare costs. Increased weight can be an isolated health condition or part of a syndrome, with implications for evaluation, testing, management and treatment strategies.

This course will provide an overview of current knowledge of syndromic and non-syndromic obesity from a clinical and molecular perspective. We will provide updates on the management and treatment of common syndromes with obesity, including Prader-Willi syndrome, Bardet-Biedl syndrome, Alström syndrome, Albright Hereditary Osteodystrophy, and Smith-Magenis syndrome. These conditions will be contrasted to those arising from disturbance to the pathways involved in non-syndromic obesity, including the leptin and MC4R pathway. Testing strategies for the diagnosis of monogenic obesity and a selection of the signaling pathways involved in fat metabolism will also be presented.

These three talks will be followed by a panel presentation of cases that illustrate an approach to typical referral indications, such as tall stature and increased weight gain in childhood. The cases will include a prenatal patient and the prenatal determinants of postnatal obesity will be discussed. Lastly, the course will conclude with a talk on treatment of syndromic andnad non-syndromic obesity, including a summary of therapeutic trials for obesity and studies examining the efficacy of gene therapy in mice.

Learning objectives:
At the conclusion of this session, participants should be able to:
• Formulate an approach for a genetics consultation for a syndromic cause of obesity
• Be familiar with the clinical findings in common syndromes that include obesity
• Distinguish between syndromic and non-syndromic obesity
• Understand the leptin pathway involved in appetite and growth
• Know the common features associated with pathogenic MC4R variants
• Understand testing strategies for monogenic obesity
• Discuss prenatal determinants of postnatal obesity
• List treatments and management strategies for obesity and overgrowth conditions

Course Directors
Anne Slavotinek, MB.BS, PhD, FACMG, University of California San Francisco
David Stevenson, MD, FACMG, Stanford University
Integration of Functional Genomics to Improve Variant Interpretation and Diagnosis

Clinicians and laboratorians alike are faced with an increasing multitude of variants of uncertain significance. While population-level databases continue to improve and provide a relatively standardized metric for significance; functional interpretation remains highly complex and context-dependent. While clinical functional annotation services are increasingly available, adoption has been limited.

When can the assays contribute strongly to variant reinterpretation? What labs may perform this testing? How can a clinician become involved in the process?

This short course reviews several types of functional assays and their unique considerations when reclassifying a variant. Assays discussed include measures of metabolism, epigenetic imprinting, RNA sequencing, transporter/ion channel electrophysiology and reporter gene assays. While not meant to be a comprehensive survey, this course will highlight scenarios where one should consider the use of a functional assay and a strategy for clinical investigation.

Learning objectives:
At the conclusion of this session, participants should be able to:
• Articulate several functional assays with broad applicability across disease areas
• Discuss genotype-phenotype associations
• Review limitations of various functional methodologies
• Discuss potential benefits and strategies of researcher collaboration
• Demonstrate the importance of coupling clinical phenotypes and in vitro functional assays to determine the pathogenicity of identified DEAF1variants
• Describe case examples that illustrate the need for patient-derived cells to characterize the effects of specific DEAF1 variants
• Define types of DNA methylation changes caused by the under pinning genetic defects in Mendelian disorders
• Describe current clinical application of genomic DNA methylation episignature testing in patients with rare disorders

Course Directors:
Sarah Elsea, PhD, FACMG, Baylor College of Medicine
Akash Kumar, MD, PhD, MS, Stanford University


SHORT COURSE REGISTRATION FEES

 REGISTRATION CATEGORY ON OR BEFORE
FEBRUARY 15, 2021
FEBRUARY 15, 2021
TO APRIL 13, 2021
 ACMG Member with Full Meeting  Registration 

$160

$240

 Non-Member with Full Meeting Registration

$200

$280

 ACMG Member - Short Course Only  $200  $280
 Non-Member - Short Course Only   $240  $340