This Project Grant award from the National Center for Advancing Translational Sciences (CFDA 93.350) provides $176,500.00 to the University of Washington for the period of July 1, 2024 to June 30, 2025. The goal of the project is to delineate the pathogenic effects of ATP2C1 loss-of-function in human keratinocytes and organotypic epidermis to identify therapeutic strategies for Hailey-Hailey Disease (HHD), a rare skin blistering disorder. The research aims to determine how SPCA1 deficiency...
This federal Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), provides $343,904 to The Regents of the University of California, San Francisco to investigate transcriptional abnormalities in skin-resident T cells as potential biomarkers for atopic dermatitis in Asian and Hispanic genetic backgrounds. The research aims to validate an abnormal atopic T...
This Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), will fund the development of a 3D human skin model with CRISPR/Cas9 gene knockouts to investigate interactions between the skin microbiome and skin cell populations. The $198,782 award to Duke University will enable the creation of 3D reconstructed human epidermis (RHE) cultures with knocked-out...
This Project Grant award from the National Institute of General Medical Sciences (NIGMS), under the Biomedical Research and Research Training Program (CFDA 93.859), provides $792,500 in funding to Vanderbilt University to conduct research on lipoxygenases, their associated enzymes and proteins, and the biosynthesis and fate of their oxidation products. The research aims to uncover the mechanistic basis of how a 12R-lipoxygenase (12R-LOX) metabolic pathway functions to form the water permeability...
This Project Grant award from the National Center for Advancing Translational Sciences (NCATS) under CFDA 93.350 will provide $463,150 to The Regents of the University of California, San Francisco (UCSF) to establish proof-of-concept for enzyme replacement therapy (ERT) as a lifesaving treatment for sphingosine phosphate lyase insufficiency syndrome (SPLIS), an ultra-rare and often lethal metabolic disorder. The project aims to demonstrate the efficacy of ERT in preserving kidney function and...
This Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), under the Arthritis, Musculoskeletal and Skin Diseases Research program (CFDA 93.846), will provide $401,433 from September 2023 to August 2025 to support research at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. The research aims to investigate the role of protein O-GlcNAcylation in regulating keratinocyte function and its impact on skin...
This federal Project Grant award from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), under CFDA Program 93.846 Arthritis, Musculoskeletal and Skin Diseases Research, supports research into the regulation of opioid peptides and their role in cutaneous inflammation and sensation. The $169,560 award to the Regents of the University of California, San Francisco aims to: Characterize the cellular sources of the endogenous opioid enkephalin in the skin and their...
This $2,190,307 federal Project Grant award, made by the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), aims to characterize the natural history and identify early detection methods for the rare and often lethal genetic disorder Sphingosine-1-Phosphate Lyase Insufficiency Syndrome (SPLIS). The award to the Regents of the University of California, San Francisco (UCSF) will enable the...
This Project Grant award of $230,250 from the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865) supports research on reversing disrupted developmental sterol biosynthesis caused by prescription medications. The research aims to find a treatment for Smith-Lemli-Opitz Syndrome (SLOS), a rare genetic disorder that disrupts cholesterol biosynthesis, by reducing toxic 7-DHC levels and counteracting...
The National Institutes of Health, through the National Center for Advancing Translational Sciences (CFDA 93.350), awarded a $163,750 Project Grant to The Johns Hopkins University to develop a human keratinocyte model and test the efficacy of lentiviral-mediated SPCA1 delivery for treating Hailey Hailey disease. The grant supports two specific aims: 1) clarifying the disease mechanism underlying the rare autosomal dominant skin disorder caused by ATP2C1 gene mutations, and 2) evaluating the...