Medical Biochemical Genetics Clinical Core Seminar Series: 2023
| Date | Lecture | |
| Jul-21-2023 |
Fatty Acid Oxidation Disorders 1
Nicola Longo, MD (University of Utah) |
CPT1, CPT2, CACT, VLCADD, LCHADD, MCADD |
| Jul-28-2022 |
Fatty Acid Oxidation Disorders 2
Nicola Longo, MD (University of Utah) |
MADD, SCADD (or not), SCHAD, CUD, SCOT, BKT |
| 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 |