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2022 Annual Meeting | C73 - Child Neurology: Metabolic Conditions and Genetics

Monday 04/04/22
01:00 PM - 03:00 PM PDT Add To Calendar
This program will be presented both in-person and online
This program will be available in the meeting's On Demand product.
Seminar
Kara Stuart Lewis, MD, FAAN
Child Neurology and Developmental Neurology
Participants will review the history of neurogenetic screening, both in specific ethnic groups and pan-ethnic screening; understand the challenges of implementing genetic screening for SMA and other disorders at the state and federal level; understand current guidelines for expanded newborn, fetal and carrier genetic screening using NGS methods; obtain practical guidance for surveillance and treatment for infants with X-ALD; consider the impact of broad genomic sequence testing. 
2.00 CME credits
Patient Care & Procedural Skills, Medical Knowledge, Practice-based Learning and Improvement
Intermediate
Fellow, Resident, General Neurologist, Specialist Neurologist, Non-neurologist, Advanced Practice Provider, Medical Student
Case-based, Didactic

Program Materials Program Evaluations

Event Timeline
01:00 PM - 01:05 PM PDT Introduction Introduction to Metabolic Conditions and Genetics
Kara Stuart Lewis, MD, FAAN
01:00 PM - 01:00 PM PDT Speaker walk in slides
Kara Stuart Lewis, MD, FAAN
01:05 PM - 01:40 PM PDT Speaker Newborn Screening in the Era of Next Generation Sequencing
Maura R.Z. Ruzhnikov, MD
01:40 PM - 02:10 PM PDT Speaker Fetal Genetic Screening In The Era Of Next Generation Sequencing
Kara Stuart Lewis, MD, FAAN
02:10 PM - 02:45 PM PDT Speaker Expanded Carrier Screening in the NGS Era
Wayne Grody, MD, PhD
02:45 PM - 03:00 PM PDT Q&A Questions and Answers
Kara Stuart Lewis, MD, FAAN, Vinodh Narayanan, MD, Maura R.Z. Ruzhnikov, MD, Wayne Grody, MD, PhD
Faculty Disclosures
Kara Stuart Lewis, MD, FAAN Dr. Lewis has nothing to disclose.
Vinodh Narayanan, MD Dr. Narayanan has nothing to disclose.
Maura R.Z. Ruzhnikov, MD Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Orchard Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Affinia Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Travere Therapeutics. Dr. Ruzhnikov has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for PTC Therapetuics. The institution of Dr. Ruzhnikov has received research support from Grace Science Foundation. The institution of Dr. Ruzhnikov has received research support from Ionis Pharmaceuticals. The institution of Dr. Ruzhnikov has received research support from NIH. Dr. Ruzhnikov has a non-compensated relationship as a Co-founder and Secretary with Little Zebra Fund that is relevant to AAN interests or activities.
Wayne Grody, MD, PhD Dr. Grody has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for RavGen. The institution of Dr. Grody has received research support from ArmGenia. Dr. Grody has received publishing royalties from a publication relating to health care.