This $140,500 Project Grant award from the National Center for Advancing Translational Sciences (NCATS, CFDA 93.350) will fund research to characterize the functional impact of clinically-identified coding variants in the ZEB2 transcription factor gene, which is associated with Mowat-Wilson syndrome, an intellectual and developmental disability. The research will use modified chromatin immunoprecipitation followed by sequencing (ChIP-seq) methods to identify wild-type and mutant ZEB2 binding...
This $451,000 Project Grant award from the National Institute of Child Health and Human Development (NICHD) under CFDA Program 93.865 - Child Health and Human Development Extramural Research will support research to elucidate the role of the KBTBD2 gene in bone development and its relation to the genetic disorder Short Syndrome. The key objectives are to: 1) Determine the molecular mechanism by which KBTBD2 regulates bone development through its interaction with the p85a subunit of PI3K, a key...
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 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 federal Project Grant award of $149,294 from the National Institute of Neurological Disorders and Stroke (NINDS) under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) supports research to understand the role of the Zic2 transcription factor in regulating Hedgehog signaling and chromatin dynamics in the developing zebrafish forebrain. The University of Wisconsin-Madison is conducting this 1-year research project to identify Zic2...
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...
The Defense Health Agency awarded a $1,107,001 Project Grant to The University of Texas Southwestern Medical Center (UT Southwestern) to conduct research on the DROSHA gene's role in regulating mesenchymal expression and chemosensitivity in Wilms tumor. The grant was awarded on September 30, 2023 and will run through September 29, 2026 under the Military Medical Research and Development program (CFDA 12.420). UT Southwestern, a component of the University of Texas System, will lead the...
This $876,314 Project Grant from the National Institutes of Health's National Institute of Child Health and Human Development Extramural Research program (CFDA 93.865) funds research at the University of North Texas on Notch signaling pathways related to hypoplastic left heart syndrome. The University will investigate the role of Notch1 signaling in vascular development of the heart using genome-edited induced pluripotent stem cell-derived vascularized cardiac organoids. Researchers aim to...
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...
This $427,625 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) will support research to evaluate plasma neurofilament light chain (NFL) as a potential disease monitoring biomarker for Wolfram syndrome, a rare genetic disorder. The primary objectives are to determine if NFL levels are elevated in Wolfram syndrome independent of confounding factors, whether NFL levels...