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- Genome Technology Program1
- 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) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia … in our study, we are not able to "take over" the long-term care of a person with MMA To enroll in our study, a person … of age. Be able to travel to and be admitted to the NIH Clinical Center in Bethesda, Maryland for 4 to 5 days each …
Event
On October 10, 2024, NHGRI will host a pre-application webinar for the Population Genomic Screening in Primary Care NOFOs. The purpose of these NOFOs is to implement and evaluate a pilot program of population genomic screening for common, actionable genomic conditions in a primary care setting.
… webinar for the Population Genomic Screening in Primary Care NOFOs: RFA-HG-24-021 , RFA-HG-24-022 , and RFA-HG-24-023 … for common, actionable genomic conditions in a primary care setting. … Virtual … Population Genomic Screening in Primary Care Pre-Application Webinar … On October 10, 2024, NHGRI …
Research at NHGRI
The NHGRI Office of the Clinical Director supports world-class clinical research and enhances the education of genetics investigators at all levels.
… The Office of the Clinical Director (OCD) provides oversight and guidance to … on the following areas: Providing and overseeing expert clinical and administrative infrastructure and support for … and help maintain standards of excellence in clinical care, the OCD holds a weekly conference to review the …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and clinical trials in Mendelian disorders. The series will …
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 … in both fundamental genomics research and patient care. I am thrilled to welcome him to the NHGRI leadership …
Profile
NHGRI researchers recently published a study using virtual reality simulations to investigate how clinicians might use a type of genomic risk information called polygenic risk scores in medical care.
…  We know from previous research that primary care providers generally don’t have a lot of experience with … almost as a pre-diagnosis.  Lastly, we saw differences in clinical recommendations based on patient race. For example, … how medical students used polygenic risk scores in making clinical recommendations to virtual patients. The researchers …
Secondary Genomics Finding Service
Clinical Research Staff and Protocol Coordinators
… 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"  … counseling for secondary findings look like? … Resources … Clinical Research Staff and Protocol Coordinators … Clinical …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study … the coming years at their own expense  Have a primary care physician or have access to a community health center  … CLINSEQ®? Possible benefits to you may include: Free clinical testing, such as testing for cholesterol and …
Graduate Medical Education
An opportunity for a 4-to-8-week elective in the National Human Genome Research Institute (NHGRI) at the NIH Clinical Center in Bethesda, MD.
… Alcohol Use Disorders Biomedical Informatics Cardiology Clinical Pharmacology and Therapeutics for Senior Medical Students Critical Care Medicine Endocrinology and Metabolism Health Services … Medical Genetics Medical Oncology Neuro-Oncology Neurology/Clinical Neuroscience … Neurosurgery Otolaryngology—Head and …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research … ways to diagnose, treat and prevent illness. … NHGRI clinical research and field work also spans a wide spectrum … diabetes. Analyzing data gathered in family studies, NHGRI clinical researchers have played key roles in a number of …