Over 20 years of Accomplishments
Awarded $40,300 initial research grant to Eva Richard, Associate Professor, Universidad Autónoma de Madrid, Spain and
Eva Delpon, Professor, Universidad Complutense de Madrid, Spain “Elucidation of cardiac electrophysiological alterations in propionic acidemia: Towards the identification of targets for therapeutics”
Awarded $50,000 continuation grant to Ken Maclean , PhD, University of Colorado Denver, “Chemical Chaperone Treatment to Restore Enzyme Activity in Folding Mutations of Propionyl-Co-A Carboxylase: Towards a Personalized Therapeutic Strategy in Propionic Acidemia (PA)”
Awarded $49,953 initial research grant to Pawel Swietach, University of Oxford, England, “Aberrant protein propionylation and distinct histone marks in propionic acidemia: new disease mechanisms and risk factors for cardiac disease”
Awarded $50,000 initial research grant to Sander Houten, Ph.D and Robert J. DeVita, Ph.D., Icahn School of Medicine at Mount Sinai, NY, US, “Substrate reduction as a novel therapeutic strategy for propionic acidemia”
Awarded a $51,500 continuation grant to Guofang Zhang, PhD, Duke University, “Propionyl-CoA and propionylcarnitine mediate cardiac complications in patients with propionic acidemia”
Awarded a $50,000 new grant to Ken Maclean, PhD, University of Colorado Denver, “Chemical Chaperone Treatment to Restore Enzyme Activity in Folding Mutations of Propionyl-Co-A Carboxylase: Towards a Personalized Therapeutic Strategy in Propionic Acidemia (PA)” – In Summer 2020, PAF awarded a $50,000 grant. Summary of Project
Awarded a $44,253 new grant to Rajavel Elango, PhD, University of British Columbia, “Optimizing amino acids in medical foods to manage propionic acidemia”
Awarded a $48,500 new grant to Guofang Zhang, PhD, Duke University, “Propionyl-CoA and propionylcarnitine mediate cardiac complications in patients with propionic acidemia”- (Spring 2019) Summary of Project
Awarded a $33,082.12 new grant to Eva Richard, PhD, Universidad Autonoma de Madrid, Spain, “Cardiomyocytes derived from induced pluripotent stem cells as a new model for therapy development in propionic acidemia” (Spring 2019). Summary of Project
Awarded a $32,912 new research grant to Oleg Shchelochkov, M.D. and Charles P. Venditti MD, PhD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD “Diversion of Isoleucine and Valine Oxidative Pathway to Reduce the Propionogenic Load in Propionic Acidemia.” See summary (2018)
Awarded a $43,645 New Research Grant to Dr. Hilary Vernon, McKusick-Nathans Institute of Genetic Medicine, John Hopkins University, Maryland (see research page for more information) (2017)
Awarded a $50,000 New Research Grant to Dr. Nicola Brunetti-Pierri, Fondazione Telethon, Italy (see research page for more information) (2017)
Sponsored research on propionic acidemia by minority students – Summer 2017 – summary
Launched The PA International Patient Registry in 2012 to provide a way for PA patients and families worldwide to improve the understanding of the disorders and accelerate research by reporting information about how the disorder affects them. The Registry is itself an IRB-approved research project and the data collected will help characterize the condition of people living with PA. You can find out more on www.paregistry.org
Education Conferences are hosted by PAF to bring families, medical providers and researchers together to learn from each other. PAF Exhibits at Meetings to increase awareness of propionic acidemia and PAF, network with providers, and increase knowledge. See conference tab for more details.
Launched the Warriors Birthday Club in memory of Jordan Franks with Deerfield High School Students in 2016. Oak Lawn-Hometown Middle School took over in 2017 and continue to bring smiles to the faces of children with propionic acidemia and their siblings. Warm Wishes Lead to a Partnership
Attended and exhibited at Abbott Nutrition Metabolic Conference May 30-June1, 2019 in Memphis, Tennessee. See post
Attended and exhibited at the Society for Inherited Metabolic Disorders (SIMD) 41st Annual Meeting on April 6-9, 2019 in Bellevue, Washington. Maria L. Cotrina, PhD, PAF Board Member, 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”. See article Spring 2019 Newsletter
Attended and exhibited at 2018 Genetic Metabolic Dietitians International (GMDI) Conference: Metabolic Nutrition: The World of Today and Tomorrow – April 26-28, 2018, Orlando FL
Attended and exhibited at Society of Inherited Metabolic Disoders (SIMD) 40th Annual Meeting, March 11-14, 2018, San Diego, CA – See article from the PAF Spring 2018 Newsletter.
Participated in a Panel for Evening with Genetics – “Partners in Progress: Parents and Scientists Catalyze Research in Rare Disease” – Houston, Texas – Evening with Genetics 11-15-17
Attended and exhibited at 16th Abbott Nutrition Metabolic Conference (2017) Summary of the conference.