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 $864,308 Project Grant award from the National Human Genome Research Institute (NHGRI), under the Human Genome Research program (CFDA 93.172), aims to provide critically needed evidence on implementing newborn genomic sequencing and managing its findings to ensure it delivers lifelong benefits. The study will conduct key-informant interviews with clinicians, health system leaders, and newborn screening coordinators to understand implementation needs and concerns. It will also follow up...
The National Institute of Child Health and Human Development (NICHD) awarded Duke University a $153,252 Project Grant under the Child Health and Human Development Extramural Research program (CFDA 93.865) with a performance period from September 9, 2024 to August 31, 2029. The funding supports two research aims: 1) Reevaluating which inherited genetic conditions warrant universal preconception carrier screening to improve its uptake and early diagnosis, and 2) Developing a machine learning...
This $693,131 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 support a comprehensive genomic resource development study at Children's Mercy Hospital in Kansas City, Missouri. The study aims to advance the understanding of genetic determinants of unexplained recurrent pregnancy loss.
The key products and services to be delivered under this 5-year...
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 $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 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 $499,055.48 in funding to the Icahn School of Medicine at Mount Sinai to conduct research aimed at identifying novel noncoding mechanisms of disease associated with developmental disorders.
The key objectives of the research project are to: (1) define new candidate loci for long-range positional...
This $2,316,937 project grant awarded by the National Institute of Child Health and Human Development (CFDA 93.865 - Child Health and Human Development Extramural Research) aims to advance newborn genome sequencing for detecting urea cycle disorders (UCDs). The project has three key objectives:
Measure the functional impact of all potential amino acid substitutions in the five genes underlying the targeted UCDs (OTC, ASS1, ASL, ARG1, and SLC25A15) to generate comprehensive variant...
This $156,000 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 enhance and archive genomic data from the Panel Study of Income Dynamics (PSID) Child Development Supplement.
The key products and services to be delivered include: 1) developing secondary data essential for genetic analyses, such as a genetic relatedness matrix, population-level and...
This $578,935 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 support the development and exploration of new technology for massively parallel, rapid, and inexpensive biochemical annotation of variants of unknown significance (VOUS) in newborn genome sequencing.
The University of Washington, the grant recipient, will employ two techniques - VOUSDO and...