Search Results
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 influence diseases and develop new and more effective diagnostics and treatments. … to define the relationship between infection, immunity and clinical decline in individuals with mitochondrial disease. …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited … People with Methylmalonic Acidemia (MMA)  and cobalamin disorders may have difficulty with growth and …
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. … diagnosed. About 80 percent of these rare disorders are genetic in origin, and 95 percent of them do not have even one treatment … Matt Might and his family provide one such genome sequencing story. Matt …
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 … pave the way for more effective ways to diagnose, treat and prevent illness. …
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 post-doctoral fellow … diseases. Dr. Aksentijevich is certified in clinical molecular genetics by the American Board of Medical … of autoinflammatory diseases. She is Board-Certified in Clinical Molecular Genetics and she runs a CLIA certified …
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 … Clinical rotations begin in the second quarter of the program …
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 … seeking answers as to why he was experiencing joint pain and recurrent high fevers. None could find the reason. Today, … the researchers at the National Institutes of Health (NIH) Clinical Center. …
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 … for studying the fundamental mechanisms of inherited and acquired genetic disorders. …
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 for reimbursement. … 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 clinical genomics in the NIH Clinical Center. … opportunity for the Institutes that participate in the NIH Clinical Center to develop capabilities within their …