SERN-SERGG-2015

Kristy Lee, CGC, MS — Challenges in Interpretation & Explanation of Exome Sequencing

Ms. Kristy Lee presents, Challenges in Interpretation & Explanation of Exome Sequencing.

Nicholas Katsanis, PhD — Modeling Structural Defects in Neonates and Young Children (SERN/SERGG 2015)

Dr. Katsanis presents Modeling Structural Defects in Neonates and Young Children.

Sarah Young, PhD — Diagnosing Creatine Deficiency Syndromes (SERN/SERGG 2015)

Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.

Barbara Marriage, RD, PhD — Nutritional Interventions in Mitochondrial Disorders (SERN/SERGG 2015)

Dr. Marriage presents Nutritional Interventions in Mitochondrial Disorders.

Patrick Seed, MD, PhD — Our Microbiome: Gaining Genomes as We Grow Up (SERN/SERGG 2015)

Dr. Seed presents Our Microbiome: Gaining Genomes as We Grow Up.

Joan Scott, CGC, MS — Updates from the Genetic Services Branch MCHB (SERN/SERGG 2015)

William Wilcox, MD, PhD — Pompe Roundtable Discussion (SERN/SERGG 2015)

Dr. Wilcox moderates a panel discussion comprised of Dr. Deeksha Bali, Ms. Andrea Atherton, and Ms. Emily Lisi.

Alex Kemper, MD, MS, MPH — Newborn Screening for MPS I: Evidence and Rationale (SERN/SERGG 2015)

Dr. Kemper presents Newborn Screening for MPS I: Evidence and Rationale.

Amy Cunningham, RD, LDN, MS — SERC/GMDI New PKU Nutrition Management Guidelines (SERN/SERGG 2015)

Cynthia Powell, MD, MS — Genomics and Newborn Screening (SERN/SERGG 2015)

Dr. Powell presents Genomics and Newborn Screening.

Andrea Atherton, CGC, MS — Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience (SERN/SERGG 2015)

Ms. Andrea Atherton presents Newborn Screening For Lysosomal Storage Disorders: The Missouri Experience.

Deeksha Bali, PhD, FACMG — Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory (SERN/SERGG 2015)

Dr. Bali presents Diagnostic confirmation of Pompe Disease: experience of a clinical laboratory.