Medical Biochemical Genetics Clinical Core Seminar Series: 2020

Date	Lecture
28-Aug-2020	Amino Acid Disorders I           Urea Cycle, MSUD, Tyrosinemia, PKU, Homocystinuria (including cobalamin G&E metab)           Shawn McCandless, Universty of Colorado
4-Sep-2020	Amino Acid Disorders II           NKH, Lysine metab (GA1 and PDE),  CNS cofactor deficiencies (riboflavin, folate)           Johan Van Hove and Curtis Coughlin, University of Colorado
11-Sep-2020	Carbohydrate Metabolism Disorders            Fructose/Galactose Metabolism, Glycolysis (include PDH), Glycogen Storage, Gluconeogenesis (include PC), Pentose Phosphate/TALDO           Areeg El-Gharbawy, Duke
18-Sep-2020	Fatty Acid Oxidation, Carnitine, Ketone Disorders           CPT1, CPT2, CACT, VLCADD, LCHADD, MCADD, MADD, SCADD (or not), SCHAD, CUD, SCOT, BKT           Nicola Longo, University of Utah
25-Sep-2020	Lysosomal Disorders            MPSI-VII, Oligosaccharidoses/ML, Sphingolipid/ceramide disorders, NCLs           Bill Wilcox, Emory
2-Oct-2020	Peroxisomal Disorders            XALD (including NBS, monitoring, BMT, and Lorenzo's Oil), ZSD/PBD, RCDP, Adult Refsum, and verious other single enzyme disorders           Hilary Vernon, Johns Hopkins
9-Oct-2020	CDG Syndromes and Mitochondrial Disorders I           Review of CDGs emphasizing treatable conditions, Overview of Clinical Mitochondrial Phenotypes           Austin Larson, University of Colorado
16-Oct-2020	Organic Acidurias           MMA (mut, cobalamin A,B,C,D,F,J,X metabolism), PA, IVA, 3MCC, 3MGA, biotin metabolism           Charles Venditti, National Institute of Health
23-Oct-2020	Newborn Screening            Reporting, interpretation, follow-up, interstate variability, new additions (the RUSP, process, and interstate variability)           Lawrence Merritt II, University of Washington
6-Nov-2020	Neurometabolic Disorders            Creatine synthesis/transport, Purine/pyrimidine metabolism, neurotransmitter disorders           Reid Sutton, Baylor
13-Nov-2020	Lipid, Bile Acid, and Cholesterol Metabolism Disorders           Lipid transport (inlcuding familial hyperlipidemias), bile acid and cholesterol synthesis defects, SLO, storage (Wolman, Tangier, NPC)           Bob Steiner, University of Wisconsin
20-Nov-2020	Disorders of Metal Ions            Copper, Iron, Manganese, Magnesium, Molybdenum, Zinc           David Koeller, OHSU
4-Dec-2020	Mitochondrial Disorders II: DIagnosis and Treatmwnt of Primary Miochondrial Disorders           Molecular and enzymatic diagnosis; biomarkers; therapies           Johan VanHove, Marisa Friederich, Austin Larson, University of Colorado
19-Mar-2021	Lab Sign-Out           (MBG Fellows Small Molecules Edition)           Deepika Burkhardt, Ali Al-Beshri, NIH/NHGRI