ADST Projects
Explore the details behind current ADST program projects.
ADST Projects
| Disease | Funding & Collaborators |
|---|---|
| Alpha-1 antitrypsin deficiency, a serpinopathy resulting from mutations in the SERPINA1 gene causing lung and liver disease | Current Foundation sponsor: Alpha-1 Foundation Primary collaboration: Boston University, Baylor University, University of Leicester, St. Louis University |
| Juvenile myositis (JM) an autoimmune disease targeting muscles, skin and other tissues caused by yet to be determined genetic and environmental factors | Current Foundation sponsor: Cure JM Foundation Primary collaboration: Children’s National Medical Center, NIH National Institute of Environmental Health Sciences |
| Peroxisomal biogenesis disorders, such as Zellweger spectrum disorder, resulting in leukodystrophy through mutated PEX genes required for peroxisome assembly | Current Foundation sponsor: Global Foundation for Peroxisomal Disorders (GFPD) and Wynne Mattefy Research Foundation Primary collaboration: University of Southern California and McGill University |
| Macrophage-mediated anti-tumor response modulators, effected with antagonists of the CD47-SIRPα interaction | Current sponsor: Paradigm Shift Therapeutics, LLC Primary collaboration: NIH National Cancer Institute |
| Charcot-Marie-Tooth disease, a peripheral neuropathy that can be divided into subtypes depending on the causative genetic factor. CMT1A results from PMP22 gene duplication, and CMT1B from MPZ mutations | Former Foundation sponsor: Charcot-Marie-Tooth Association Primary collaboration: University of Wisconsin, University of Iowa, SUNY Buffalo |
| Familial Parkinson’s disease,PARK2/PINK1-associated mitophagy pathway (example of a synucleinopathy) | Former Foundation sponsor: Michael J. Fox Foundation for Parkinson’s Research Primary collaboration: NIH National Institute of Neurological Disorders and Stroke |
| Giant axonal neuropathy, a neurological disorder characterized by neurofilament disorganization due to Gigaxonin loss-of-function | Former Foundation sponsor: Hannah’s Hope Fund Primary collaboration: Northwestern University |
| Lymphatic filariasis and onchocerciasis, neglected tropical diseases caused by insect-transmitted roundworm parasites. Collectively, they afflict 150 million people in over 80 countries | Primary collaboration: New England Biolabs, University of Tokyo, University of Kansas, National Institute of Standards and Technology |
| Idiopathic inflammatory myopathies and myositis, muscle weakness due to acquired deficiency of metabolic enzyme Adenosine monophosphate deaminase 1 (AMPD1) | Primary collaboration: Children’s National Health System and Florida Atlantic University |
| Dravet Disease, due to down regulation of the voltage-gated sodium channel Scn1a | Primary collaboration: San Raffaele Scientific Institute |
| Diamond-Blackfan anemia, erythroid dysplasia linked to ribosome biogenesis (RPS19 mutations) | Primary collaboration: NIH National Human Genome Research Institute and University of Cincinnati |
| Retinitis pigmentosa, progressive sight loss from photoreceptor or RPE degeneration | Primary collaboration: Johns Hopkins University |
| Malaria, tropical mosquito-borne infectious disease caused by the parasitic protozoan, Plasmodium falciparum | Primary collaboration: NIH National Institute of Allergy and Infectious Diseases, University of Michigan, Boston University, and Sanaria |
| Pruritus, chronic itch due to over activation of the natriuretic peptide receptor-A | Primary collaboration: NIH National Institute of Dental and Craniofacial Research |
| Cancer and aging diseases, dysregulation of cellular senescence associated with Δ133p53 isoform | Primary collaboration: NIH National Cancer Institute |