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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program1
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium2
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
NHGRI researchers asked patients, parents and physicians in the sickle cell disease community (SCD) what they wanted and needed to know about genome editing to make informed decisions about participating in genome-editing clinical trials.
… are seriously ill may overestimate the benefits of early clinical trials while underestimating the risks. This makes … informed decisions about participating in genome-editing clinical trials. Gene-editing treatments, which appear to … can influence a person’s decision to participate in a clinical trial. “Designing clinical trials for curative …
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… across diverse ancestral groups and suitability for clinical use, among others. The WG will identify specific … consideration of these measures in interpretation and clinical translation of PRSs. The SDoH WG will also work … in PRS methods development and contextualizing PRS implementation, and with additional WGs (e.g. SEIPR and …
Staff
Renee Rider is a genetic counselor and a Program Director for the National Human Genome Research Institute (NHGRI) Implementing Genomics in Practice Pragmatic Trials Network (IGNITE PTN).
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… a little-known inherited heart condition. However, the Clinical Genome Resource ’s (ClinGen) expert panel has … ClinGen is an NHGRI-funded resource that defines the clinical relevance or validity of genes in various genetic … suggest that these genes not be routinely tested in clinical settings when evaluating patients and families with …
News Release
NHGRI has released a new action agenda for a diverse genomics workforce. This ambitious set of goals, objectives, and implementation strategies details NHGRI’s plans for enhancing the diversity of the genomics workforce by 2030.
… workforce . This ambitious set of goals, objectives, and implementation strategies details NHGRI’s plans for enhancing … been identified by NIH as underrepresented in biomedical, clinical, behavioral and social sciences. These groups … transition programs that lead to independent research and clinical careers in genomics. Evaluate progress towards …
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
… research studies. Staff Clinicians are expected to provide clinical leadership and the highest level of clinical care. In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better …
Staff
Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program Director for the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource.
… Nephi A. Walton, M.D., M.S., FACMG … Dr. Nephi Walton is a clinical geneticist, medical informaticist, and Program … the National Human Genome Research Institute (NHGRI) AnVIL Clinical Resource. With over 20 years of experience in … to care for patients with complex rare disorders in his clinical practice. … Biography … Related Programs … Nephi A. …
Staff
Dr. Merideth is a staff clinician in the Office of the Clinical Director and program director for both the NHGRI Medical Biochemical Genetics Fellowship and
NHGRI Clinical Biochemical Genetics Fellowship.
… at the NIH where she subsequently completed a residency in Clinical Genetics at NHGRI and subspecialty fellowship training in Clinical Biochemical Genetics. Dr. Merideth is board certified in Obstetrics/Gynecology, Clinical Genetics and Clinical Biochemical Genetics. She also …
Research at NHGRI
A list of scientific and clinical research investigators at NHGRI.
… … Research Investigators … A list of scientific and clinical research investigators at the National Human Genome Research Institute. … A list of scientific and clinical research investigators at NHGRI. … Research at NHGRI …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet … (NIH).  Thanks to her aunt, Emily found the NIH RUNX1-FPD clinical research study , which takes a detailed look at the clinical and genetic features of people who may have the rare …