Over 15 years of Accomplishments

RESEARCH

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

OUTREACH

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 2018 Genetic Metabolic Dietitians International (GMDI) Conference: Metabolic Nutrition: The World of Today and Tomorrow –   April 26-28, 2018, Orlando FL – Propionic Acidemia Foundation (PAF) partnered with the National Urea Cycle Disorders Foundation (NUCDF) in sharing an exhibition booth.   Jill Chertow represented PAF and had the opportunity to attend informative presentations, share information on PAF, and network with dietitians.

Attended and exhibited at Society of Inherited Metabolic Disoders (SIMD) 40th Annual Meeting, March 11-14, 2018, San Diego, CA – Propionic Acidemia Foundation (PAF) partners with the National Urea Cycle Disorders Foundation (NUCDF) in sharing an exhbition booth. – 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.