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 |
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 |
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 |
Macrophage-mediated anti-tumor response modulators, effected with antagonists of the CD47-SIRPα interaction |
Current sponsor: Paradigm Shift Therapeutics, LLC |
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 |
Familial Parkinson’s disease,PARK2/PINK1-associated mitophagy pathway (example of a synucleinopathy) |
Former Foundation sponsor: Michael J. Fox Foundation for Parkinson’s Research |
Giant axonal neuropathy, a neurological disorder characterized by neurofilament disorganization due to Gigaxonin loss-of-function |
Former Foundation sponsor: Hannah’s Hope Fund |
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 |
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NCATS mentors students via NIH-wide training programs to strengthen their skills across research disciplines and help prepare them for successful scientific careers. Meet former NCATS intern Bryan Queme.
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