Search Results
Staff
Dr. Oleg Shchelochkov is Director of NHGRI Clinical and Laboratory Residencies and Fellowships, and an Associate Investigator in the Office of the Clinical Director.
… aciduria. By combining clinical and biochemical studies, he and his colleagues demonstrated beneficial effect … a new natural history protocol dedicated to the studies of propionic acidemia. This protocol-based study …
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.
… Atopic Dermatitis (AD), also known as eczema. With these studies, we hope to lay the groundwork for development of … bacteria and fungi, contribute to this disease. With these studies, we hope to lay the groundwork for development of …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of … one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) … that describes the study of all of a person's genes (the genome), including interactions of those genes with each …
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 … 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 …
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.
… or undiagnosed conditions . Journal of Child and Family Studies . DOI: 10.1007/s10826-023-02645-6. Zajdel M., Keller …
Clinical Research
A Longitudinal Natural History Study of Children with Mitochondrial Disease (at the NIH Clinical Center).
… level of independence. We will explain the need for those studies to you (your child). They may include imaging studies such as a DEXA or MRI scan, energy expenditure or … identifier in the search box: NCT01780168. To find all studies related to inborn errors of metabolism, type "inborn …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… of studying diverse populations. By conducting functional studies of this locus in zebrafish and mice, researchers …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… … ADHD often appears to run in families, and research studies have suggested that there may be a genetic component … to participating families. As with all of our research studies, participation is completely voluntary. You may …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… The study, led in part by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, will inform future studies on the early detection and treatment of diabetes. The … and senior author of the study. “The majority of prior studies have been in rodents or in islet-like groups of cells …
News Release
A new study highlights how genomic mutations that cause mitochondrial disease may also compromise affected people's immune response.
… M.D., senior author and investigator at the National Human Genome Research Institute. Related Resources Cytochrome c …