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 federal Project Grant award from the National Institutes of Health (NIH) Office of Research Infrastructure Programs (ORIP) under CFDA 93.351 will provide $246,000.00 from July 15, 2025 to April 30, 2027 to The Regents of the University of California, San Francisco (UCSF) to characterize a novel mouse model linking sphingolipid metabolism to multi-organ fibrosis. The project aims to: 1) Characterize the spectrum of organs affected by fibrosis and sphingolipid changes in the S1P lyase (SPL)...
This Project Grant award of $1,819,296.00, issued by the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), will fund research to unravel the genomic causes for unsolved leukodystrophy patients. The award will utilize long-read genome sequencing (HiFi-GS) to identify complex genetic variants, such as repeat expansions and structural variants, that are often missed by standard short-read genome...
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...
This federal Project Grant award of $249,000 from 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 identify new therapeutics and understand molecular mechanisms for Congenital Disorders of Glycosylation (CDGs). The key objectives are to: 1) Determine the mechanisms of modifier genes that can rescue a DPAGT1-CDG cell model, 2) Conduct a drug repurposing screen in a DPAGT1-CDG...
This federal Project Grant award of $189,056 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 by Neurosant Therapeutics LLC to develop therapeutics that can correct the underlying genetic cause of Smith-Magenis Syndrome (SMS). The key goals of the project are to demonstrate that the expression of the RAI1 gene, which is reduced in SMS due to a genetic deletion,...
This Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), provides $201,875 to Duke University to conduct research on the developmental origins of Sturge Weber Syndrome (SWS). The goal is to identify the specific fetal cell type and developmental timeframe in which the causative somatic mutation occurs, in order to generate a faithful animal...
This Project Grant award from the National Institute of Child Health and Human Development (NICHD), under the Child Health and Human Development Extramural Research program (CFDA 93.865), is focused on elucidating the mechanisms underlying the pathogenesis of Hao-Fountain Syndrome, a rare genetic disease caused by USP7 variants. The $456,892 award, effective from August 1, 2025 to July 31, 2027, will support research to investigate the effect of Hao-Fountain Syndrome variants on the ERK1/2...
This Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), under the federal Child Health and Human Development Extramural Research program (CFDA 93.865), provides $121,920 to the University of North Carolina at Chapel Hill to investigate the role of the protein RFT1 in growth and developmental signaling. The research aims to elucidate how RFT1 regulates hedgehog signaling and downstream mTOR complex 2 pathways, which are key...
The National Institute of Child Health and Human Development (NICHD) awarded a $1,802,392 Project Grant under the Child Health and Human Development Extramural Research program (CFDA 93.865) to the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. The goal of this 5-year grant, awarded on August 16, 2024, is to improve methods for identifying genetic contributors to rare diseases, especially neurodevelopmental disorders in children, using long-read genome sequencing technology. The...
The federal Project Grant award R01HD113778, totaling $2,245,254.00, was provided by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865). The award aims to characterize the natural history and progression of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS), an ultra-rare and often lethal metabolic disorder. Key objectives include: 1) Defining the spectrum of SPLIS clinical presentations and their natural progression over time; 2) Determining how biomarkers reflect or predict functional changes in SPLIS patients; and 3) Establishing a screening strategy for early SPLIS detection. This research will lay the groundwork for evaluating targeted SPLIS therapies in future clinical trials and enable early interventions to prevent irreversible organ damage. The award was granted to the University of California, San Francisco, which will leverage its expertise in biomedical research and translational medicine to achieve these goals over the project period from September 2024 to June 2029.