May

27

Back to Basics: The Physical Exam is the Cornerstone of Precision Medicine

Sponsored by The Education and Professional Development Committee

Back by popular demand! This recorded session from the 2025 ACMG Annual Clinical Genetics Meeting returns as a complimentary live webinar, featuring the original faculty for live Q&A. An OnDemand version will be available following the event for a nominal fee as part of the ACMG Education Webinar Series.

June

17

Novel Splice-Driven Mechanisms of Human Genetic Diseases Unveiled by Long-Read RNA-Sequencing

Sponsored by The Education and Professional Development Committee

Back by popular demand! This recorded session from the 2025 ACMG Annual Clinical Genetics Meeting returns as a complimentary live webinar, featuring the original faculty for live Q&A. An OnDemand version will be available following the event for a nominal fee as part of the ACMG Education Webinar Series.

Agenda:

2:00 pm-3:30 pm ET | Session Broadcast

3:30– 4:00 pm ET | Live Faculty Q&A

July

15

How a Biochemical Genetics Laboratory Confirmation Testing Interfaces with Positive Newborn Screening Tests: Case Focus on Homocystinuria and Duchenne Muscular Dystrophy 

An educational offering sponsored by the American College of Medical Genetics and Genomics (ACMG) with contributions from the Association for Diagnostics & Laboratory Medicine (ADLM)

2:00pm-3:00pm ET

This case-based webinar explores the critical role of biochemical genetics testing in confirming newborn screening results. Focusing on Homocystinuria and Duchenne Muscular Dystrophy, speakers will share real cases highlighting the diagnostic challenges and the process of distinguishing true positives from false positives through additional testing.

August

19

ACMG Committee - In progress

September

16

A Team-Based Approach to Care in Metabolic Genetics: Integrating Clinical, Laboratory, and Nutrition Expertise

An educational offering sponsored by the American College of Medical Genetics and Genomics (ACMG) with contributions from Genetic Metabolic Dietitians International (GMDI)

2:00pm-3:30pm ET

October

21

Expanding Phenotypes of Female Heterozygotes in X-Linked Neurogenetic Conditions

Sponsored by The Education and Professional Development Committee

2:00pm-3:00pm ET

Description:

This session explores the evolving understanding of X-linked neurogenetic conditions in female heterozygotes. Experts will highlight how variable X-inactivation leads to diverse clinical presentations in females, challenging traditional classifications of X-linked disorders. Case studies and research findings on conditions such as OTC deficiency, DMD, X-ALD, and PDHA1-related PDC deficiency will be discussed, along with updates in terminology related to sex and gender in medical genetics.

November

18

It’s All About the Vitamins [B]aby!

Sponsored by The Education and Professional Development Committee

2:00pm-3:00pm ET

Description:

This session will explore the essential functions of vitamins—particularly B vitamins—as metabolic cofactors and their significance in maintaining health. Through a series of case-based examples, we will examine how vitamin deficiencies can mimic inherited metabolic disorders (IMDs), and how supratherapeutic dosing of select B vitamins can be employed as targeted therapies.