Project Grant R01HG013710
- This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $716,587 to Boston Children's Hospital to advance equity in rare disease genomic research. The key objectives are to: Develop and implement a Diversity, Equity, and Inclusion toolkit within the Broad Institute's Rare Genomes Project to improve engagement and participation from historically underrepresented populations in rare disease genomic studies. This will involve...
- This $993,446 Project Grant award from the National Human Genome Research Institute (CFDA 93.172 Human Genome Research) supports the development of statistical and machine learning approaches to decode the regulatory activity underlying disease variants, link variants to genes in relevant cell types, and identify disease-critical cooperative programs of genes and genomic elements. The goal is to produce computational tools and workflows that can identify and rank functionally disease-critical...
- This Project Grant award from the National Human Genome Research Institute (NHGRI), under the Human Genome Research program (CFDA 93.172), provides $446,042 to The Children's Hospital Corporation (dba Boston Children's Hospital) to develop and evaluate a web-based application called NEST. NEST is designed to empower families of infants diagnosed with rare genetic conditions to obtain appropriate follow-up care and management through personalized healthcare plans. The key objectives are to: 1)...
- This Project Grant award of $240,647 from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) supports research by Brigham & Women's Hospital Inc. to develop deep learning methods for resolving uncertain variant classifications from genomic sequencing data. The project aims to use clinical reports and variant data from the ClinVar database to train text classification models that can better predict pathogenicity of genetic variants. This will enhance the...
- The National Human Genome Research Institute (NHGRI) awarded a $470,250 Project Grant (CFDA 93.172 - Human Genome Research) to Children's Hospital Los Angeles (CHLA) to explore the perspectives of diverse parents on issues related to pediatric genome testing, research, and data management. The award will fund a qualitative pilot study utilizing focus groups, interviews, and a survey to: (1) examine attitudes towards genome sequencing for clinical testing and research with a focus on...
- This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) provides $400,618 to Care Progress LLC to develop an AI-powered chatbot tool that will enhance guideline-concordant genetic e-consults for primary care physicians (PCPs). The key products to be delivered include: Methods to integrate large language models with clinical genetics practice guidelines to generate semi-automated, quality e-consult recommendations for PCPs on when to...
- This Project Grant award of $138,499.00, provided by the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research), will support a research project titled "Integrating Genetics and Socio-Environmental Factors to Predict Disease Progression" at The General Hospital Corporation, doing business as Massachusetts General Hospital (MGH). The project aims to advance predictive models of disease progression by developing and applying statistical frameworks that integrate...
- 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 federal Project Grant award of $245,753.00 by the National Science Foundation's Social, Behavioral, and Economic Sciences program (CFDA 47.075) supports research into the translation of scientific research, specifically human genomic analysis, into a medical tool for newborn genomic screening. The project investigates the scientific research, biotechnology actors, and other interested parties driving this development, as well as its effects on patients, healthcare systems, and society....
- This Cooperative Agreement award, funded by the National Cancer Institute (NCI) under the Cancer Cause and Prevention Research program (CFDA 93.393), aims to integrate and scale genomic medicine interventions across a rural healthcare system. The $478,240 award to Geisinger Clinic, a large integrated healthcare provider in Pennsylvania, will support a 5-year project to implement and evaluate three key genomic medicine interventions: 1) genomic screening in primary care, 2) pharmacogenomic...
This Project Grant award from the National Human Genome Research Institute (CFDA 93.172 - Human Genome Research) will provide $754,561 to Geisinger Clinic to advance understanding of prenatal genetic diagnoses through patient engagement and data sharing. The key products and services to be delivered include: Engaging participants who have undergone fetal genetic sequencing to develop a patient-driven registry for collecting and sharing genomic and phenotypic data longitudinally. Utilizing the participant-provided data to enhance understanding of gene-disease relationships, variant classification, and the appropriate disclosure of prenatal genetic results. This effort aims to enable the translation of genomic data into precision medicine for patients undergoing diagnostic fetal sequencing, and foster ongoing patient engagement. The project will run from August 2025 to June 2029.
Mod # | Description | ReasonForModification | Federal Obligation | Date |
|---|---|---|---|---|
| Not listed | $754.6k | 8/13/25 |