PAF at SIMD 2019

Jill Chertow and Maria L. Cotrina represented PAF and the PA Community at the Society for Inherited Metabolic Disorders (SIMD) 41st Annual Meeting on April 6-9, 2019 in Bellevue, Washington.  Propionic Acidemia Foundation (PAF) partners with the National Urea Cycle Disorders Foundation (NUCDF) in sharing an exhbition booth.

Maria L. Cotrina shared her poster on “High Incidence of Autism/ASD in Propionic Acidemia: Data from the Propionic Acidemia and Urea Cycle Disorders Registries.”

Arianna F. Anzmann, MS was the recipient of  the SIMD Founders Award (Best Oral Presentation by a Trainee).  Her presentation “Multi-Omics Studies in Patient-Derived and CRISPR-Edited Cellular Models of Methylmalonc Acidemia and Propionic Acidemia Reveal Dysregulation fo Serine Metabolism: New Directions for Cellular Pathogenesis in Disorders of Branch Chain Amino Acid Metabolism.”  was a result of a 2017 PAF awarded grant to Hilary Vernon, MD, PhD, Johns Hopkins University for the project “Targeting Serine and Thiol Metabolism in Propionic Acidemia”.