Gene Therapy Updates and Pharmacological PresentationsMatthew Ellinwood, DVM, PhDCSO, National MPS Society Dr. Matthew Ellinwood spoke on advances in a subset of gene therapy that involves gene editing. Gene editing involves the targeted and sequence specific editing of genomic DNA in a patient or a patient’s cells. Various methods exist involving systems developed from discoveries … Continued
National MPS Society AdvocacyChristine Tippett, Chair, Advocacy CommitteeNational MPS Society Board of Directors The National MPS Society’s Advocacy Committee has monthly calls. There are over 25 members and they work in areas of newborn screening, appropriations language, legislative action alerts to members, COVID task force and partner with Everylife Foundation and the RDLA. In 2020, … Continued
Accelerating a Treatment for GNTAB-Related Disorders Richard Steet, Ph.D.Jennifer Klein, MS One year since the formation of the MCRN, the network continues to meet monthly, with the primary function to coordinate several labs focused on ML research. The Network executes systematic and standardized testing of different treatment ideas in common animal models for ML II, ML … Continued
The Impact of COVID-19 on MPSHeather Lau, MD The COVID-19 global pandemic has made 2020 a year like no other. In her keynote presentation, Dr. Heather Lau delivers an overview of the disease, some recent U.S. statistics, and the varying ways it can impact the MPS community. The most common symptoms of COVID-19 have been … Continued
Orthopedic Management of the MucopolysaccharidosesKlane White, MD Dr. Klane White provides a visual overview of pediatric orthopedics and the prevention and treatment of musculoskeletal disorders in children with MPS. Dysostosis Multiplex (multiple bone abnormalities) is a progressive condition specific to MPS. The abnormalities can include varus and valgus bowing of the legs, scoliosis in the … Continued
Natural History of MPS Disorders – What Do We Know About Cognition Over Time?Elsa Shapiro, PhD, A.B.P.P., LP Dr. Elsa Shapiro delivers an overview of the effects of MPS on neurocognitive functions, how they differ in each syndrome type, and the effectiveness of transplant and enzyme replacement therapy for each. In most of the MPS … Continued
Support sessions for caregivers of individuals with Sanfilippo Syndrome (MPS III) will take place on Tuesday, August 4 and Tuesday, August 18.
With a nod to our 45 year history, the 2019 Annual Report outlines the amazing work of our committees, and highlights key efforts in fundraising, research, and support over the past year.
This is a second round of funding for the 2020 Society Research Program.
Congratulations to all of this year's recipients! We're proud to share their stories and support their journeys.