Hope for PDCD Foundation

The foundation makes annual grants to tax exempt medical research facilities which conduct research in a variety of fields related to PDCD which will further the foundation's mission of expanding the understanding and treatment of this condition This was a payment for University of Texas Southwestern UTSW Medical Facility as part of OTD Contract SRA202302-0021 to conduct gene therapy research for PDHA1 genetic mutations causing Pyruvate Dehydrogenase Complex Deficiency including but not limited to synthesis of vector design and development of a mouse colony and AAV vector manufacture

This foundation makes grants to support getting PDCD on newborn screening panels to identify patients with this condition early in order to improve prognosis Amy Gaviglio is a Genetics Counselor and public health genetics and genomics consultant from Connetics Consulting who has successfully shepherded diseases through the Recommended Uniform Screening Panel RUSP PDCD is compelling because it can be screened for by utilizing biomarkers that are already being screened and its need for early intervention of a ketogenic diet This payment is for Amy to guide the foundation with getting the prospective study going and getting the RUSP through