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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
… The Clinical Center Genomics Opportunity promotes precision medicine and spurs the development of infrastructure to support clinical genomics in the NIH Clinical Center. … The program provides …
News Release
NIH is awarding $18.9 million towards research that aims to accelerate the use of genome sequencing in clinical care for all individuals.
… that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative … centers. … The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) … populations that are traditionally underrepresented in genomics research, coupled with the inclusion of broader …
Research Funding
ClinGen will advance genomics in clinical care and improve our understanding of phenotypic and functional effects of genetic variants and their clinical value.
… information on only a few genomic variants is used in clinical practice. One factor that limits the clinical use of variant information is the lack of openly … Embrace diversity in all aspects from diversity of the genomics workforce to the diversity of the patients and …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes … tests and treatments. Deciding whether to participate in a clinical study is an important and personal process. Some …
For Patients and Families
​Clinical research is research conducted with human subjects, or material of human origin, in which the researcher directly interacts with human subjects.
… Clinical research is research conducted with human subjects, … the researcher directly interacts with human subjects. Clinical researchers at the National Human Genome Research … in the research project (See: Informed Consent for Genomics Research ). The Food and Drug Administration (FDA) …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… research in the field of genetic counseling and provides clinical rotations for students to learn directly about … and the role of the professional genetic counselor. … Clinical rotations begin in the second quarter of the program … M.S.  Center for Precision Health Research Precision Genomics Julie Sapp, Sc.M.  Reverse Phenotyping Core …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… record, and complete a genetics consult. … The Secondary Genomics Finding Service (SGFS) will annotate new and … that variants in 59 genes be returned to people undergoing clinical sequencing - this is frequently referred to as the … annotation and return of actionable secondary findings in clinical sequencing; contains the "ACMG 59 gene list"  …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… personally use social media to communicate about NHGRI and genomics, I am hoping to stay better connected with friends, … institute and the field of genomics. … Ben Solomon, NHGRI Clinical Director, with NHGRI Director Dr. Eric Green and … On Nov. 12, Benjamin Solomon, M.D., started as NHGRI’s Clinical Director. In this position, he is responsible for …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each … and/or homocysteine levels in the blood and/or urine, and clinical history. Dr. Venditti will determine patient …
News Release
Clinical geneticist to lead NHGRI’s clinical genomics research efforts
… Sarah A. Bates, M.S. … Clinical geneticist to lead NHGRI’s clinical genomics research efforts … The National Human Genome …