This Project Grant award from the National Institute of Neurological Disorders and Stroke (NINDS), under the Extramural Research Programs in the Neurosciences and Neurological Disorders (CFDA 93.853) program, provides $461,528 to the University of Connecticut Health Center (UCHC) to create the first human-based cellular model of Hao-Fountain syndrome. The goal is to understand the effect of disease-linked mutations on the enzymatic function of USP7 and on neuron differentiation and morphology....
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 federal Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) under CFDA 93.865 - Child Health and Human Development Extramural Research provides $419,204 to The University of Kentucky Research Foundation to conduct research on rare genetic disorders associated with the SHOC2 gene. The project aims to use a zebrafish model to functionally characterize genetic variants found in patients with Noonan Syndrome with Loose Anagen Hair...
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), provides $339,000.00 to New York University (NYU) School of Medicine to conduct research on the genetic factors underlying Hirschsprung disease, a rare developmental disorder. The research aims to comprehensively characterize the genetic basis of Hirschsprung disease by analyzing whole genome sequencing data...
This Project Grant award from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), under CFDA Program 93.865 "Child Health and Human Development Extramural Research", provides $561,640 to Duke University to conduct research on the signaling and cellular mechanisms that drive notochord patterning in zebrafish. The goal is to elucidate the clock mechanism that times the addition of new mineralized segments along the anterior-posterior axis, as well...
This federal Project Grant award of $294,408, 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), supports research to investigate the role of Sonic Hedgehog signaling in regulating skeletal patterning during zebrafish fin regeneration. The research aims to identify key Sonic Hedgehog target genes and how they facilitate interactions between Sonic...
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...
This federal Project Grant award, provided by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) under CFDA Program 93.865 Child Health and Human Development Extramural Research, will support research into de novo mutations in replication-independent histone genes and their role in rare pediatric neurodevelopmental disorders. The $341,442 award, effective August 23, 2024 through March 31, 2027, will enable investigators at the University of Pennsylvania...
This $161,500 Project Grant was awarded by the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865). The grant is intended to establish basic science-clinical collaborations to understand the molecular mechanisms of heterotaxy, a severe form of congenital heart disease that affects 3-4% of patients with congenital heart defects. The funding will support research at the University of Virginia to...
The University of Kentucky Research Foundation was awarded a $231,000 Project Grant (R21HD117520) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) to evaluate the causes of failure to thrive in a Noonan-like syndrome with loose anagen hair (NSLH) using a zebrafish vertebrate model. The research aims to investigate how mutations in the SHOC2 gene, found in NSLH patients, affect early...