Medical Biochemical Genetics Clinical Core Seminar Series: 2023

The Medical Biochemical Genetics Clinical Core Seminar Series, supported by MBG programs across the country, provides an advanced, clinically based curriculum for MBG fellows in the setting of an interactive virtual platform. These high yield didactic sessions are taught by experts in the field, and they emphasize salient points in the diagnosis and management of inborn errors of metabolism, as well as highlight current thoughts in research and experimental therapies. All are welcome. For a ZOOM invitation please contact Peter.Baker@childrenscolorado.org.

Date	Lecture
Jul-21-2023	Fatty Acid Oxidation Disorders 1           Nicola Longo, MD (University of Utah)	CPT1, CPT2, CACT, VLCADD, LCHADD, MCADD
Jul-28-2022	Fatty Acid Oxidation Disorders 2           Nicola Longo, MD (University of Utah)	MADD, SCADD (or not), SCHAD, CUD, SCOT, BKT
Aug-04-2023	Amino Acid Disorders 1           Nicholas Ah Mew, MD (Children's National)	Urea Cycle Disorders, MSUD
Aug-11-2023	Lysosomal Disorders 1           Bill Wilcox, MD, PhD (Emory University)	MPS I-VII, Oligosaccharidoses, Mucolipidoses
Aug-18-2023	Amino Acid Disorders 2           Shawn McCandless, MD (University of Colorado)	PKU, Tyrosinemia, Homocystinuria (including cobalamin G&E metab)
Aug-25-2023	Carbohydrate Metabolism Disorders 1           Areeg El-Gharbawy, MD, DSc (Duke University)	Fructose/Galactose Metabolism, Glycolysis (include PDH), Gluconeogenesis (include PC), Pentose Phosphate/TALDO
Sep-01-2023	Amino Acid Disorders 3           Curtis Coughlin, PhD (University of Colorado)	NKH, Lysine metab (GA1 and PDE)
Sep-08-2023	Carbohydrate Metabolism Disorders 2           Areeg El-Gharbawy, MD, DSc (Duke University)	Glycogen Storage Disorders
Sep-15-2023	Organic Acidurias 1           Irini Manoli, MD, PhD (NIH)	MMA (mut, cobalamin A,B,C,D,F,J,X metabolism)
Sep-22-2023	Clinical Biochemical Laboratory           TIm Wood, PhD (University of Colorado)	Laboratory Assays commonly used in IMD
Sep-29-2023	Lysosomal Disorders 2           Bill Wilcox, MD, PhD (Emory University)	Sphingolipid/ceramide disorders (Fabry, Gaucher, Krabbe, etc) , Neuronal Ceroid Lipofuscinoses
Oct-06-2023	Neurometabolic Disorders 1           V. Reid Sutton, MD (Baylor College of Medicine)	CNS cofactor deficiencies (riboflavin, folate), neurotransmitter disorders
Oct-13-2023	Mitochondrial Disorders 1           Marni Falk, MD (University of Pennsylvania)	Molecular and enzymatic diagnosis; biomarkers; therapies in mitochondrial disorders
Oct-20-2023	Newborn Screening           Shawn McCandless, MD (University of Colorado)	Reporting, interpretation, follow-up, interstate variability, new additions (the RUSP, process, and interstate variability)
Oct-27-2023	Organic Acidurias 2           Oleg Shchelochov, MD (NIH)	PA, IVA, 3MCC, 3MGA, biotin metabolism
Nov-03-2023	Neurometabolic Disorders 2           V. Reid Sutton, MD (Baylor College of Medicine)	Creatine synthesis/transport, Purine/pyrimidine metabolism
Nov-10-2023	Mitochondrial Disorders 2           Austin Larson, MD (University of Colorado)	Overview of Clinical Mitochondrial Phenotypes
Nov-17-2023	Congenital Disorders of Glycosylation            Hudson Freeze, PhD (Sanford Burnham Prebys Institute)	Overview of CDG and potential/existing treatments
Dec-01-2023	Peroxisomal Disorders           Hilary Vernon, MD , PhD (Johns Hopkins University)	XALD (including NBS, monitoring, BMT, and Lorenzo's Oil), ZSD/PBD, RCDP, Adult Refsum
Dec-08-2023	Lipid, Bile Acid and Cholesterol Disorders           Robert Steiner, MD (University of Wisconsin)	Bile acid and cholesterol synthesis defects, SLO, lipid storage (Wolman, Tangier, NPC)
Dec-15-2023	Novel Therapies in IEM           Shawn McCandless, MD (University of Colorado)	Survey of new and future novel therapeutics for IEM