This $292,727 Project Grant award from the National Institutes of Health (NIH) under the Trans-NIH Research Support program (CFDA 93.310) supports a research project by The Broad Institute, Inc. to discover novel regulators of 3D genome organization. The project aims to leverage large-scale genomic datasets to predict and experimentally validate new trans-acting factors that regulate chromatin interactions and genome architecture. By applying deep neural network models to in silico genetic...
This Project Grant award of $125,000 from the National Institute of General Medical Sciences (NIGMS) under the Biomedical Research and Research Training Program (CFDA 93.859) supports research to understand the factors that shape the formation of structural variants in the human genome. The research aims to use computational and experimental methods to investigate the role of imperfect sequence homology, or microhomology, in double-strand break repair processes that can lead to structural...
This federal 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 $674,312 to The Johns Hopkins University to conduct research on elucidating epigenetic mechanisms underlying growth and neurodevelopmental disorders. The award aims to use the rare genetic disorders Weaver and Sotos syndromes as models to better understand the epigenetic...
This $148,568 federal Project Grant awarded by the National Institute of General Medical Sciences (NIGMS) under CFDA 93.859 Biomedical Research and Research Training Program will support research to elucidate the role of chromatin structures in genomic imprinting. The project, led by Harvard University, aims to investigate the regulatory mechanisms and functional implications of allele-specific chromatin structures in the regulation of the MEST-COPG2 imprinted domain, which is associated with...
This Project Grant award from the National Institutes of Health (NIH) Trans-NIH Research Support program (CFDA 93.310) provides $451,000.00 to The University of Texas Southwestern Medical Center (UT Southwestern) to develop CRISPR interference (CRISPRi) technology and induced pluripotent stem cells (iPSCs) to identify genes on human chromosome 21 that contribute to Down syndrome pathologies. The goal is to build tools for high-throughput screens to pinpoint genes involved in the reduced...
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) federal grant program, provides $580,045.00 to The Trustees of the University of Pennsylvania to investigate the role of the chromatin methyltransferase DOT1L in neuronal function and how its disruption leads to neurodevelopmental disorders. The research aims to elucidate the mechanisms through...
This federal Project Grant award from the National Institutes of Health (NIH) Office of the Director under the Trans-NIH Research Support program (CFDA 93.310) provides $2,357,335 to study neuronal dysfunction in Down syndrome (DS) and its link to Alzheimer's disease (AD). The key products and services delivered under this award include: Utilizing induced pluripotent stem cell (iPSC)-derived cortical organoids and assembloids to examine the cellular, transcriptomic, and motility-related...
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 $147,486, provided by the National Institute of Child Health and Human Development (NICHD) under CFDA Program 93.865 - Child Health and Human Development Extramural Research, aims to investigate the role of the placenta-brain axis in Down Syndrome (DS) development. The research, conducted by The Johns Hopkins University, will examine how increased dosage of human chromosome 21 genes, specifically APP and SOD1, impact placental function and the secretion of neuroactive...
This $3.386 million project grant from the National Institutes of Health's Trans-NIH Research Support program (CFDA 93.310) will fund research at Beth Israel Deaconess Medical Center to develop a potential treatment for Down syndrome. The grantee will assess the efficiency of using a modified CRISPR approach and single nucleotide polymorphism-based guide RNA targeting to silence one of three copies of human chromosome 21 in the Tc1 mouse model of Down syndrome. If successful, this research could...