Medical Biochemical Genetics Clinical Core Seminar Series: 2020

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 or

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