The National Institute of Child Health and Human Development (NICHD) awarded a $231,000 Project Grant (CFDA 93.865 - Child Health and Human Development Extramural Research) to The University of Kentucky Research Foundation to evaluate the causes of failure to thrive in patients with a Noonan-like syndrome (NSLH). The grant will fund the use of a zebrafish model to investigate how mutations in the SHOC2 gene, found in NSLH patients, affect early gastrointestinal development and metabolism. The...
This federal Project Grant award of $1,204,928 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 to investigate the mechanisms by which rare genetic variants in regulatory enhancer regions can cause ectopic gene expression and developmental disorders, using limb malformations as a model. The key objectives of the award are to: 1) characterize the chromatin and...
This Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) provides $195,896 to the University of Oregon to support research on the role of sonic hedgehog signaling in skeletal patterning during zebrafish fin regeneration. The project aims to identify sonic hedgehog target genes and how they promote interactions between sonic hedgehog-expressing basal epidermal cells and progenitor...
This Project Grant award from the National Institutes of Health (NIH) National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) provides $602,956 to the University of Alabama at Birmingham (UAB) to identify and characterize genetic variants associated with ciliopathy birth defects. The key objectives are to: Assess the functional impact of variants in known and novel ciliopathy genes using in vitro and in vivo zebrafish and...
This federal Project Grant award, titled "The Role of SOXe Transcription Factors in Neural Crest Cell Specialization," is provided by the National Institute of Dental and Craniofacial Research (NIDCR) under the Oral Diseases and Disorders Research program (CFDA 93.121). The $821,236.30 award, starting on September 16, 2024 and ending on August 31, 2027, will support research to investigate how SOXe transcription factors contribute to the specialization of neural crest cells, which...
This Project Grant award from the National Institutes of Health (NIH) Research Infrastructure Programs (CFDA 93.351) will develop a resource of rigorously validated, translatable zebrafish models of previously undiagnosed human genetic diseases. The $743,926 award, effective September 15, 2024 through August 31, 2028, will leverage collaboration with clinical diagnostic centers to obtain genetic information on new cases of undiagnosed rare human diseases. A bioinformatics pipeline will be used...
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 $230,250 to the University of Nebraska Medical Center (UNMC) to research treatments for Smith-Lemli-Opitz Syndrome (SLOS), a rare genetic disorder affecting cholesterol biosynthesis. The key activities include: 1) High-throughput screening of 727 compounds to identify 3 promising drugs (ziprasidone,...
This federal Project Grant award, totaling $1,313,434.00, was 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). The award is focused on unraveling the genomic causes of unsolved leukodystrophy patients through the use of high-fidelity long-read genome sequencing (HiFi-GS) technology. The primary objectives are to first utilize AI/ML-assisted short-read genome sequencing (SRGS)...
This federal Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) in the amount of $1,113,790 supports research to explore the role of the CHAMP1 gene in human brain development and function. The Medical University of South Carolina (MUSC) is the primary awardee and will undertake a series of complementary approaches, including high-resolution imaging, single-cell multiomics, and...
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), supports research on the developmental origins of Sturge-Weber Syndrome (SWS). The $201,875 award to Duke University aims to address gaps in knowledge about SWS pathogenesis, specifically the timing and cell type of the causative somatic mutation, in order to develop a faithful mouse model of the disease. The...