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

Lectures for 2023 shown below. You may also see 2022 lectures, 2021 lectures, and 2020 lectures.

Date Lecture  
Jul-21-2023 Fatty Acid Oxidation Disorders 1
          Nicola Longo, MD (University of Utah)
Jul-28-2022 Fatty Acid Oxidation Disorders 2
          Nicola Longo, MD (University of Utah)
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