Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- 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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Research Institute (NHGRI) are working with patients and families to better understand of how genes can cause or … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. … … a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will … with MMA and related disorders to learn more about the genetic causes of the various types of these inherited … outpatient clinic but most will be inpatient admissions. Evaluations will involve urine collection, blood drawing, …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… Genomics is ending diagnostic odysseys for patients with rare diseases. … Did … diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a … diseases. Dr. Aksentijevich is certified in clinical molecular genetics by the American Board of Medical … … For almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… Equipped with the power of genomic information and state-of-the art resources available at the National Institutes of Health (NIH), clinical researchers at the National Human Genome Research … West Africa and in Finland in the quest to determine the genetic risk factors for adult-onset, Type II diabetes. …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… The JHU/NIH Genetic Counseling Training Program trains students to conduct social, behavior and policy research in the field of genetic counseling and provides clinical rotations for students to learn directly about …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… most of his days in extreme pain. He could barely walk and used a wheelchair. He saw numerous doctors in his … the researchers at the National Institutes of Health (NIH) Clinical Center. … Transformative Research Rohith is just one … knew that the cause wasn't due to an infection. It must be genetic. Dr. Kastner requested blood samples from Rohith and …
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, … for studying the fundamental mechanisms of inherited and acquired genetic disorders. … Clinical research is research conducted …
Policy Issues
Payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests for reimbursement.
… For patients to have full access to the benefits of genetic testing, payers such as insurance companies and Medicare need systematic ways of evaluating genetic tests … … Genomic medicine has the capacity to revolutionize clinical practice. The mapping of the human genome has …
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 … vision that this will evolve toward comprehensive genomic evaluations in the future. To initiate this program, we will …