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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
NIH will renew three awards totaling $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and archive information about clinically relevant genes and genomic variants for use in precision medicine.
… $73.2 million over five years to continue building the Clinical Genome (ClinGen) resource, an effort to collect and … The use of genome sequencing in medical research and clinical practice has become more common in recent years, but … 60 expert panels, which have collected and archived the clinical impact of thousands of genes and genomic variants. …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… autotemcel and exagamglogene autotemcel ), and through clinical trials . While there are a number of clinical trials for sickle cell gene therapy, the journey can … each step. … …  Step 1: Referral for participation in a clinical trial or a treatment  If you are referred to a …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… Amanda Ombrello, M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of … physician, she leads the Inflammatory Disease Section’s clinical team overseeing the care of greater than 2000 … … Amanda Ombrello, M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of …
News Release
Genomicists and clinicians are beginning to offer patients genetic testing for a list of treatable diseases apart from the one that brought them into the clinic.
… for variants that could cause health problems. At the NIH Clinical Center, researchers took a blood sample from Bryant. … that people who have their genomes sequenced in a clinical setting should also have their genomic data screened … Health Research , to further understand and improve the implementation of precision medicine initiatives. "Secondary …
Event
Workshop on use of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and health disparities.
… of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and … of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and … of race and ethnicity data in genomics, biomedical, and clinical research, and their influence on minority health and …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… in Bogota, Colombia. He completed his residency in Clinical Neurology from the University of Minnesota Hospitals and Clinics and is Board Certified in Clinical Neurology by the American Board of Psychiatry and … Motor Control Section (HMCS), NINDS. Dr. Toro served as a clinical neurologist consultant specialized in the evaluation …
Research at NHGRI
The Metabolic Medicine Branch houses clinical and laboratory research programs that focus on the development of new therapies for patients with genetic disorders.
… The Metabolic Medicine Branch (MMB) houses clinical and laboratory research programs that focus on the … Medicine Branch involves interconnected laboratory and clinical projects focused on several conditions, including … direct human subject research studies in the NIH Clinical Center, and they also use experimental systems, …
Staff
Dr. Mo is an adjunct staff clinician in the Hematology Laboratory, Department of Laboratory Medicine in the NIH Clinical Center.
… in Guangzhou, China;  residency in Anatomic and Clinical Pathology (AP/CP) from Loma Linda University Health, CA (2016-2020); and a clinical fellowship in Hematopathology from the University of … Tx (2021). Dr. Mo is board certified in Anatomic and Clinical Pathology, as well as in Hematopathology. Dr. Mo …
For Health Professionals
The ISCC-PEG Pharmacogenomics (PGx) Project Group has developed peer-reviewed online education for healthcare practitioners to advance pharmacogenomics in clinical practice.
… and how to apply pharmacogenomics information into clinical decision making. Author: Spoorthy Reddy, BS.  … resources from the Food and Drug Administration (FDA), the Clinical Pharmacogenetics Implementation Consortium (CPIC), and the Pharmacogenomics …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Eirini Manoli, M.D., Ph.D. … Dr Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid … a postdoctoral research fellowship (NCCAM), followed by clinical and biochemical genetics training through the … led to the recognition of errors in the design and implementation of medical nutrition therapy in MMA and …