This Project Grant award of $1,313,434 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 unravel the genomic causes of unsolved leukodystrophy patients. The primary awardee, Children's Mercy Hospital, will utilize advanced long-read genome sequencing (HiFi-GS) to identify complex genetic variants, such as repeat expansions and structural variants, that may account for missed...
The National Institute of Child Health and Human Development (NICHD) awarded a Project Grant under the Child Health and Human Development Extramural Research program (CFDA 93.865) to the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. The $364,324 grant, awarded on August 15, 2024, will fund research to investigate the role of retrotransposable elements (RTEs) in neurodevelopment and their potential involvement in neurodevelopmental disorders. The research aims to...
This 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 investigate the role of histone demethylase enzymes KDM3A and KDM3B in the development of primordial germ cells during mouse embryonic development. The $160,877 award to the University of Wisconsin-Madison will fund experiments using an in vitro model of primordial germ cell differentiation...
This Project Grant award of $341,442 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 investigate the role of a specific histone protein mutation (MACROH2A1) in causing rare pediatric neurodevelopmental disorders. The award will enable the University of Pennsylvania to conduct a two-part study. In Aim 1, the researchers will use a human neurodevelopment model...
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 National Institute of Child Health and Human Development (NICHD), under CFDA 93.865 "Child Health and Human Development Extramural Research", provides $147,486 to Emory University to conduct research on how defects in the maternal epigenetic reprogramming function of the LSD1/KDM1A enzyme contribute to inherited phenotypes. The research aims to determine how partially compromised maternal LSD1 reprogramming at fertilization leads to perinatal...
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 for the "Development of Quantitative EEG Biomarkers for Smith Magenis Syndrome". The $500,500 award, effective from Jun 1, 2025 to May 31, 2027, will support research by the Children's Research Institute to retrospectively analyze overnight EEGs from children with Smith Magenis Syndrome and...
This federal Project Grant award, provided by the National Institute of Child Health and Human Development (NICHD) under CFDA 93.865 - Child Health and Human Development Extramural Research program, supports research on the functional roles of histone modifier genes linked to autism spectrum disorders (ASD). The $756,565.44 award to the University of California, Los Angeles (UCLA) will fund a 3-year study to systematically analyze the developmental and behavioral impacts of mutations in...
The National Institute of Child Health and Human Development (NICHD) awarded a $147,486 Project Grant under the Child Health and Human Development Extramural Research program (CFDA 93.865) to The Trustees of the University of Pennsylvania, doing business as Clinical Practices of the University of Pennsylvania. The grant, which runs from September 1, 2025 to August 31, 2028, will support research investigating the role of the protein KIF2C in regulating the microtubule cytoskeleton during the...
This $3,422,481 Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) will support a comprehensive genomic research program at Children's Mercy Hospital to characterize novel causes of unexplained recurrent pregnancy loss (RPL). The program will leverage the hospital's large clinical RPL service and existing Genomic Answers for Kids (GA4K) pediatric rare disease database to procure carefully...