Newborn Screening Study

Now recruiting patients born in: California, Michigan, New Jersey, New York This study is also recruiting any patients in any state who have privately banked cord blood and would provide a single-drop sample. Please contact Leslie Urdaneta directly if interested. This study is recruiting patients with MPS I (attenuated: Hurler-Scheie or Scheie Syndromes), MPS II, … Continued

Science in MPS and ML

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

Charting our Course – Advocacy and Mission Development

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

Mucolipidosis Collaborative Research Network (MCRN)

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

Navigating Rare Diseases in a Vulnerable Health Climate

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 and Respiratory Management

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

Neurological Management of MPS

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