Medical Biochemical Genetics Clinical Core Seminar Series: 2024

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 Dr. Peter Baker at Peter.BakerII@CUAnschutz.edu .

Date	Lecture
Jul-19-2024	Fatty Acid Oxidation Disorders 1           Nicola Longo, MD (University of Utah/ UCLA)	CPT1, CPT2, CACT, VLCADD, LCHADD, MCADD
Jul-26-2024	Fatty Acid Oxidation Disorders 2           Nicola Longo, MD (University of Utah/ UCLA)	MADD, SCADD (or not), SCHAD, CUD, SCOT, BKT
Aug-02-2024	Amino Acid Disorders 1           Curtis Coughlin, PhD (University of Colorado)	NKH, Lysine metab (GA1 and PDE)
Aug-09-2024	Lysosomal Disorders 1           Bill Wilcox, MD, PhD (Emory University)	MPS I-VII, Oligosaccharidoses, Mucolipidoses
Aug-16-2024	Amino Acid Disorders 2           Shawn McCandless, MD (University of Colorado)	PKU, Tyrosinemia, Homocystinuria (including cobalamin G&E metab)
Aug-23-2024	Carbohydrate Metabolism Disorders 1           Areeg El-Gharbawy, MD, DSc (Duke University)	Fructose/Galactose Metabolism, Glycolysis (include PDH), Gluconeogenesis (include PC), Pentose Phosphate/TALDO
Aug-30-2024	Amino Acid Disorders 3           Nicholas Ah Mew, MD (Children's National Hospital)	Urea Cycle Disorders, MSUD
Sep-06-2024	Carbohydrate Metabolism Disorders 2           Areeg El-Gharbawy, MD, DSc (Duke University)	Glycogen Storage Disorders
Sep-13-2024	Organic Acidurias 1           Irini Manoli, MD, PhD (NIH)	MMA (mut, cobalamin A,B,C,D,F,J,X metabolism)
Sep-20-2024	Clinical Biochemical Laboratory           TIm Wood, PhD (University of Colorado)	Laboratory Assays commonly used in IMD
Sep-27-2024	Lipid, Bile Acid, and Cholesterol Metabolism Disorders           Robert Steiner, MD (University of Wisconsin)	Bile acid and cholesterol synthesis defects, SLO, lipid storage (Wolman, Tangier, NPC)
Oct-04-2024	Neurometabolic Disorders 1           V. Reid Sutton, MD (Baylor College of Medicine)	CNS cofactor deficiencies (riboflavin, folate), neurotransmitter disorders
Oct-11-2024	Mitochondrial Disorders 1           Marni Falk, MD (University of Pennsylvania)	Molecular and enzymatic diagnosis; biomarkers; therapies in mitochondrial disorders
Oct-18-2024	Lysosomal Disorders 2           Bill Wilcox, MD (Emory University)	Sphingolipid/ceramide disorders (Fabry, Gaucher, Krabbe, etc) , Neuronal Ceroid Lipofuscinoses
Oct-25-2024	Novel Therapies in IEM           Shawn McCandless, MD (University of Colorado)	Survey of new and future novel therapeutics for IEM
Nov-01-2024	Neurometabolic Disorders 2           V. Reid Sutton, MD (Baylor College of Medicine)	Creatine synthesis/transport, Purine/pyrimidine metabolism
Nov-8-2024	Mitochondrial Disorders 2           Austin Larson, MD (University of Colorado)	Overview of Clinical Mitochondrial Phenotypes
Nov-15-2024	Congenital Disorders of Glycosylation            Hudson Freeze, PhD (Sanford Burnham Prebys Institute)	Overview of CDG and potential/existing treatments
Nov-22-2024	Peroxisomal Disorders           Hilary Vernon, MD , PhD (Johns Hopkins University)	XALD (including NBS, monitoring, BMT, and Lorenzo's Oil), ZSD/PBD, RCDP, Adult Refsum
Dec-06-2024	Newborn Screening           Shawn McCandless, MD (University of Colorado)	Reporting, interpretation, follow-up, interstate variability, new additions (the RUSP, process, and interstate variability)
Dec-13-2024	Organic Acidurias 2           Oleg Shchelochkov, MD (National Institute of Health)	PA, IVA, 3MCC, 3MGA, biotin metabolism
Quarterly	Case-Based Discussion           Mari Mori, MD (Nationwide Children's)	Case based discussion of various disorders from lectures above, in collaboration with SIMD educational webinar series