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
          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