ADST Projects

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