ANA Highlights: Introduction to Genetics
The course is a primer for the practicing clinician and includes discussion about: the importance of family history and phenotype to accurate genetic diagnosis, e.g., when to order microarrays, disease gene panels, vs. whole exome vs. whole genome sequencing, use of specialized tests (i.e. suspected mosaicism, nucleotide repeat disorders), and pedigree analysis. Dr. Andrea Gropman, Chief of Neurogenetics and Neurodevelopmental Pediatrics and Attending Neurologist at Children’s National is the lead for this module.
This course is Chapter 1 of the larger ANA Highlights Neurogenetics series available for ABPN self assessment credit. We have separated the larger course into these smaller chapters for those not interested in the full course.
The ANA Highlights Neurogenetics program is chaired by Dr. M. Elizabeth Ross, Nathan Cummings Professor and Head, Laboratory of Neurogenetics and Development, Director, Center for Neurogenetics at Weill Cornell Medicine. The ANA Highlights bite-size learning program is chaired by Michelle C. Johansen, MD, PhD, Assistant Professor of Neurology, Cerebrovascular Division at the Johns Hopkins Hospital.
The ANA received a grant from Illumina in support of this activity.
This program is comprised of four chapters in the following topics and includes short (~15 minutes), pre-recorded videos. Following this activity, the ANA expects learners to be more confident in their ability to:
- Understand the different types of neurogenetic testing available today, and prospects for future developments
- Improve patient care through the above-listed capabilities
The planners and faculty for this activity do not have any relationships to disclose unless listed below. All relevant relationships with ACCME-defined ineligible companies were mitigated according to ACCME Standards prior to the start of the activity.
Gemma Carvill: Research grant with Stoke Therapeutics
Derek Narendra: Spark Therapeutics. I anticipate that my lab may receive research funding as part of a research collaboration prior to my presentation, but has not received this funding yet.
Daniel Geschwind: Biogen-honoraria for consulting, F.Hoffman-La Roche Ltd.-funding
Available Credit
- 1.50 AMA PRA Category 1 Credit™The American Neurological Association is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. The American Neurological Association designates this Enduring material for a maximum of 1.50 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
- 1.50 Participation