This Project Grant award from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), under the Diabetes, Digestive, and Kidney Diseases Extramural Research program (CFDA 93.847), will fund research to generate comprehensive maps of variant effects for genes involved in monogenic diabetes. The $644,473 award, effective September 1, 2024 through May 31, 2029, will enable the Leland Stanford Junior University to:
Quantitatively characterize the 'functional enzymatic...
This $757,089 federal Project Grant award was provided 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 aims to identify novel genes and variants associated with congenital diaphragmatic hernia (CDH), a severe structural birth defect, and validate these discoveries in mouse models.
The primary work will be conducted by the Jackson Laboratory, which will use high-throughput...
The National Institute of Child Health and Human Development (NICHD) awarded a $603,726 Project Grant (CFDA 93.865 - Child Health and Human Development Extramural Research) to the Hudsonalpha Institute for Biotechnology to conduct long-read genome sequencing research to identify genetic variants contributing to rare neurodevelopmental disorders in children. The project will sequence the genomes of 500 affected individuals, with an additional 400 genomes from their parents, using Pacific...
This $400,000 Project Grant award from the National Human Genome Research Institute (NHGRI) under CFDA 93.172 "Human Genome Research" will support a research program at Brigham & Women's Hospital to develop advanced computational methods for accurately identifying and genotyping structural variants within large genetic biobank datasets.
The key objectives of the work are to: 1) create haplotype-informed algorithms to improve detection sensitivity and genotyping accuracy for...
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), will support research to unravel the genomic causes for unsolved leukodystrophy patients. The primary awardee, Children's Mercy Hospital, will utilize advanced long-read genome sequencing (HiFi-GS) and artificial intelligence/machine learning techniques to analyze 125 cases of unsolved...
This $249,000 Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) to the University of Kansas Center for Research Inc. will support research to identify new therapeutics and determine molecular mechanisms for Congenital Disorders of Glycosylation (CDGs). The key objectives are to:
Characterize the mechanisms of newly identified modifier genes that can rescue a DPAGT1-CDG cell model to...
This Project Grant award R01HL168247 from the National Heart, Lung, and Blood Institute (NHLBI) under the Cardiovascular Diseases Research program (CFDA 93.837) provides $827,665 to the New York Genome Center, Inc. (NYGC) to develop scalable methods to identify causal genetic variants, relevant cell types, and target genes associated with cardiovascular disease (CVD) risk.
The key products and services to be delivered include: 1) creating a reference atlas of 3D enhancer maps for 13 blood...
The National Human Genome Research Institute (NHGRI), under the Human Genome Research Program (CFDA 93.172), awarded a $172,584 Project Grant to Vanderbilt University Medical Center (VUMC) to develop a high-throughput, multimodal strategy to improve the classification of genetic variants associated with Mendelian diseases. The project aims to leverage large DNA-linked biobanks and high-throughput functional assays to reclassify variants of uncertain significance as either pathogenic or...
This Project Grant award from the National Human Genome Research Institute (NHGRI), under the Federal Grant Program for Human Genome Research (CFDA 93.172), provides $383,748 to Jumpcode Genomics Inc. to develop a CRISPR-based depletion technology to resolve pseudogene contamination in next-generation sequencing (NGS)-based genetic testing.
The goal is to increase the sensitivity and specificity of detecting disease-causing genetic mutations by depleting pseudogene-derived molecules from NGS...
This federal 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 $265,500 to The Children's Hospital Corporation (doing business as Boston Children's Hospital) to conduct in vivo assessment of variants of uncertain significance in the intellectual disability gene ANKRD17.
The key products/services to be delivered under this 2-year award include using an...