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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) Consortium1
- 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
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… (NHGRI) has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and … His efforts will integrate laboratory-based and clinical methods to study several pediatric diseases, … group have the potential to one day provide the kind of clinical and therapeutic insights that will hopefully change …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. Ellen.sidransky@nih.gov (301) …
Research Funding
​CSER is rapidly advancing the knowledge necessary to develop best practices for implementating genomic sequence data into clinical care. ​
… becomes routine. Evidence regarding the most promising clinical applications and the specific diseases or individual … Incorporation of comprehensive genomic sequence data into clinical care will require changes to institutional policies, … and improved to integrating sequence information into the clinical workflow. The ethical, legal, and psychosocial …
The Genomics Landscape
In the December 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights Ben Solomon joining NHGRI as Clinical Director.
… 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 leading the institute’s intramural Clinical Research Program, providing oversight and guidance …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … study is to conduct dedicated, systematic, and long-term clinical research of patients with germline RUNX1 mutations … and underlying mechanisms, which will lead to better clinical management and hopefully develop new therapies. …
Event
On April 10-11, the National Human Genome Research Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC.
… Institute (NHGRI) sponsored a workshop titled Defining a Clinical Data Ecosystem for Genomic Health in Washington, DC. … genomic information would travel with the patient and the clinical use of it achieved through bioinformatics systems, … rapid utilization of genomic data. For example, advanced clinical decision support systems (CDSS) could leverage …
Staff
Jie Zhou is a data manager and SAS programmer at NHGRI's Center for Research on Genomics and Global Health.
… She has applied her SAS skills to genetic epidemiology, clinical trials, and biotechnology. She has created a unique sample … H, Adeyemo A, Rotimi CN. Pharmacogenomics, ancestry and clinical decision making for global populations. …
Clinical Research
The Institutional Review Board (IRB)Â is responsible for protecting the rights and welfare of the human subjects of research protocols that are conducted by intramural investigators in NHGRI and a number of other institutes.
… An Introduction to Radiation for NIH Research Subjects NIH Clinical Research Studies Active Consent / Assent Documents … Federal-Wide Assurances (FWAs) FDA Guidance for IRBs, Clinical Investigators and Sponsors  FDA … Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, Genetic …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… recruiting volunteers! Each study participant will have a clinical visit that will include a medical and family … study will take place at the National Institutes of Health Clinical Center in Bethesda, Maryland. Compensation will be … Disease, Leg Ulcers, Genetic Condition, Genetic Disorder, Clinical Trial, Research Study, Sickle Cell Trait … The …
Clinical Research
The Protocol Service Center provides assistance in the development and administration of study protocols requiring NIH Institutional Review Board approval.
… of resources for the investigator wishing to conduct clinical research. Services that the PSC can provide to … Research Privacy, Privacy Of Research Participants, Clinical Trials, Genetic Disorders, Return Of Results, Genetic …