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- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). … … particularly for using computational approaches to study the molecular innovations driving diversity in early …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic … more requests for participation than we can accept. Our study team will review medical records to determine if the … autoinflammatory diagnoses. … To learn more about this study, or to apply to participate, contact tina.romeo@nih.gov …
Clinical Research
This study explores how microbes, such as bacteria and fungi, contribute to a very common skin condition called Atopic Dermatitis, known as eczema.
… The study is trying to determine how microbes, such as bacteria … disease. … We invite you or your child to join a research study of both healthy volunteers and patients with atopic … and other skin disorders . … What is involved in the study? For AD (Eczema patients): We will sample your child's …
News Release
By considering mixed genetic lineages, NHGRI researchers demonstrated that previously inferred links between a genomic variant that helps digest lactose and traits such as a person’s height and cholesterol level may not be valid.
… mixed genetic lineages, researchers at the National Human Genome Research Institute (NHGRI), part of the National … as admixture. As such, the results from previous genome-wide association studies that do not account for admixture in …
Research at NHGRI
The goal of our Caregiving Study is to understand how caregivers manage the demands of caring for a loved one with a long-term health condition and how social relationships affect caregivers' ability to cope.
… on caregivers’ health and well-being. Our Caregiving Study explores the impact of caregiver stress over time and … ability to cope with caregiving demands. The Caregiving Study focuses on the following diagnoses: Inborn errors of … email CaregivingStudy@mail.nih.gov . … 2024 Caregiving Study Newsletter 2023 Caregiving Study Newsletter 2022 …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… The Metabolism, Infection and Immunity (MINI) Study is a longitudinal natural history study at the National Institutes of Health (NIH) that  aims … M.D. Principal Investigator  … The main goal of our study is to understand the relationship between infection and …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… How to Register Controlled-Access Studies  Study registration in dbGaP is required for large-scale human … to single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data or … … NOT-HG-21-022 : Notice Announcing the National Human Genome Research Institute’s Expectation for Sharing Quality …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to … role in the disorder. One of the long-range goals of this study is to facilitate the diagnosis of ADHD and the … ADHD and their families. By volunteering for this type of study, we believe that you and your family will help to bring …
News Release
Researchers show critical association between diabetes and previously unlinked ZRANB3 gene.
… Prabarna Ganguly, Ph.D. … Researchers show critical association between diabetes and previously unlinked ZRANB3 … of Health researchers have reported the largest genomic study of type 2 diabetes (T2D) in sub-Saharan Africans, with … populations. The work was funded by the National Human Genome Research Institute (NHGRI), the National Institute of …