Project Grant R01HD111570

Award Date 9/20/24
Completion Date 5/31/29
Dollars Obligated $1.3M
Federal Grant Program
93.865
Assistance Type
Project Grant
Place of Performance
Missouri, USA
Similar Awards
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) will fund a $603,726 initiative to improve methods for identifying genetic contributors to rare diseases, particularly neurodevelopmental disorders in children. The project will sequence the genomes of 500 affected individuals and 400 of their parents (900 genomes total) using Pacific Biosciences'...
This National Institute of Child Health and Human Development (NICHD) Project Grant, awarded under the Child Health and Human Development Extramural Research program (CFDA 93.865), aims to develop strategies for earlier genetic disease diagnosis and treatment. The $153,252 award to Duke University supports two key objectives: Reevaluating guidelines for universal preconception carrier screening to improve uptake and identify additional actionable genetic conditions. This involves analyzing...
This $605,280 federal Project Grant award was provided by the National Institutes of Health (NIH) National Human Genome Research Institute (NHGRI) under the Human Genome Research (CFDA 93.172) program. The objective of this 4-year project is to gain a multi-perspective understanding of the ethical challenges arising in patient-focused drug development (PFDD) for rare diseases and to develop tools to manage these challenges. The project involves three main activities: 1) conducting...
This $499,055.48 federal Project Grant award from the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) supports research to identify novel noncoding mechanisms of disease associated with developmental disorders (DDs). The key objectives are to: (1) define novel candidate long-range positional effect loci by identifying topologically associated domains (TADs) intolerant to disruption and building models to predict...
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 federal Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $162,461 to the University of Utah to conduct research on integrated multimodal phenotyping of zebrafish models for human cognitive disorders. The project aims to generate knockouts of transcriptional regulators associated with cognitive disorders, characterizing the resulting mutants at the molecular, cellular, brain morphology, and behavioral levels. The research...
This federal Project Grant award from the National Human Genome Research Institute (NHGRI), under the Human Genome Research program (CFDA 93.172), supports the development of a novel deep reinforcement learning framework for haplotype assembly. The $457,920 award, effective July 15, 2024 through June 30, 2026, will enable researchers at the Broad Institute of MIT and Harvard to advance methods for accurately partitioning DNA sequencing read fragments into maternal and paternal haplotypes. This...
This federal Project Grant award from the National Human Genome Research Institute (CFDA 93.172 Human Genome Research) provides $399,156 to Galatea Bio Inc. to develop and apply machine learning-based approaches for estimating disease risk in diverse and admixed populations. The key objectives are to: 1) evaluate the performance of existing polygenic risk score (PRS) models for European ancestry individuals, 2) generate an improved ancestry reference panel with deeper representation of...
This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $131,085 to The Leland Stanford Junior University from September 1, 2024 to August 31, 2026 to develop and apply "genomic large language models" (genomic LLMs) to advance the understanding of how genetic variants influence phenotypes. Key objectives of the award include: 1) Developing new genomic LLM techniques to model how transcription factors regulate gene...
This $249,000 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), aims to identify new therapeutics and understand molecular mechanisms for Congenital Disorders of Glycosylation (CDGs). The key products and services to be delivered through this 3-year award include: 1) Determining the mechanisms by which identified modifier genes can rescue a DPAGT1-CDG...

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) analyses to identify 125 cases of unsolved leukodystrophy, and then explore the utility of HiFi-GS capabilities such as structural variant detection, methylation analysis, and personal haploid assemblies to provide a more comprehensive assessment of genomic features contributing to these rare pediatric neurological disorders. The project will also validate key findings through functional studies using patient-derived induced pluripotent stem cells and zebrafish models. The award period runs from September 20, 2024 to May 31, 2029, and involves sub-awards to the University of Utah and the Research Institute of the McGill University Health Centre to leverage their specialized expertise in leukodystrophy research and advanced genomic analysis techniques.

Generated 4/29/25, 3:10 AM