We are developing robust high-throughput screening (HTS) cell-based assays using directly patient cell lines to screen selected libraries of drug-like compounds that enhance the residual activity of specific misfolded mutant enzymes.
we are currently establishing fibroblast-derived induced-neuronal (iN) cells from patients with LSDs. The iN cells from LSD will be crucial to investigate pathogenic cascades of neurological relevance. The aim is to investigate to confirm LMP in different LSDs and investigate the molecular mechanisms causing LMP and its downstream events in iN cells from LSD patients.
Several clinical studies related to the natural history of different LSD and early and late phase clinical trials in collaboration different pharmaceuticals. Most subjects are evaluated and recruited for the studies in clinic.
We are grateful for the research support of funding from:
The National MPS Society and its members raise money to provide student fellowships and fund research projects. We participate in and host technical conferences that allow researchers to collaborate and discuss their findings. We collaborate with other lysosomal storage disease (LSD) patient support groups and family research foundations to fund research.
The National Institute of Neurological Disorders and Stroke is an Institute within the National Institutes of Health that aims to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.
National Tay-Sachs & Allied Diseases Association (NTSAD) is one of the oldest patient advocacy groups in the country. We focus on funding research, supporting over 500 families and individuals worldwide, and raising awareness to prevent disease.