Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Divisions
Programs
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
​
… Jr. is acting deputy director of the National Human Genome Research Institute (NHGRI) and a member of the senior … State University. Mr. Bonham was a fellow in the American Association of Medical Colleges Health Services Research … not had access to genomics. The Bonham group also studies sickle cell disease, a condition impacted by emerging …
Research at NHGRI
CRGGH develops a comprehensive staff and training program that uses genomic approaches to study human health and to reduce/eliminate health disparities.
… (CRGGH) and the Scientific Director of the National Human Genome Research Institute , National Institutes of Health … before immigrating to the United States for further studies. Dr. Rotimi started his education in the United … the NIH, Dr. Rotimi was the Director of the National Human Genome Center at Howard University. In his continued efforts …
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… the 20th anniversary of the completion of the Human Genome Project, and the 20th anniversary of National DNA Day. … will focus on advances in single-cell analysis and genome-wide regulatory mechanisms. Each session will be followed by … the rapid increase in the number of published genome-wide association studies (GWAS). These studies provide an …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Society of Human Genetics (ASHG) and the National Human Genome Research Institute (NHGRI). The goal of the colloquium …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
Research at NHGRI
In NHGRI, Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and treat a diverse group of clinical conditions.
… patient care services as part of research studies. Staff Clinicians are expected to provide clinical … Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and … Staff Clinicians work on many different clinical research studies, including helping to better understand, manage, and …
Careers and Training
The Health Disparities Unit (HDU) in the Social and Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a postdoctoral fellow interested in the study of the intersection of genomics, social determinants of health and health inequities.
… Behavioral Research Branch (SBRB) of the National Human Genome Research Institute (NHGRI) is recruiting a … of genomics, race and human genetic variation. … The unit studies sickle cell disease as a case study of a genetic … the Division of Intramural Research at the National Human Genome Research Institute, located in Bethesda, MD, USA. Our …