Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Sections
Divisions
Fact Sheets
A biological pathway is a series of actions among molecules in a cell that leads to a certain product or a change in the cell.
… cues, cells send and receive signals through biological pathways. The molecules that make up biological pathways … regulation of genes and in the transmission of signals. Metabolic pathways make possible the chemical reactions that occur in our bodies. An example of a metabolic pathway is the process by which cells break down …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… treatment Trial in Patients with Alkaptonuria Biochemical/Metabolic and Therapeutics March 14, 2024, 4:15 – 5:45 p.m … for Cerebral Creatine Deficiency Syndromes Biochemical/Metabolic and Therapeutics … Poster Presentations  No. Title … Where Epigenetics, Cancer and Hypoxia meet P134 Neuronal Pathways by Differential Tractography Correlate with Clinical …
The Genomics Landscape
In the January 5, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., talks about how artificial intelligence and machine learning are becoming omnipresent throughout NHGRI and in genomics.
… the best,   … Rare and common genetic determinants of metabolic individuality and their effects on human health … innate and foreign substances. In some cases, these metabolic changes can impact physical traits such as risk of …
Fact Sheet
Pharmacogenomics is a growing area of genomic medicine that uses a patient's genomic information to help healthcare providers select the medications and dosages that are predicted to work best in each patient.
Fact Sheets
Comparative genomics is a field of biological research in which researchers compare the complete genome sequences of different species.
… uncovering new behavioral, neurological and developmental pathways and genes that are shared or related among species. … of dogs with sleep problems have revealed genes and pathways - and potential drug targets - to treat sleep …
The Genomics Landscape
In the April 2024 issue of The Genomics Landscape, NHGRI Director Eric Green details how the Office of Genomic Data Science (OGDS) is becoming the epicenter for genomic data science at the institute, with numerous collaborations, projects and activities.
… The researchers found that type 2 diabetes disrupts metabolic processes consistently across populations. Additionally, the study highlighted a new metabolic signature that could help in determining a person’s …
The Genomics Landscape
In the March 2024 issue of The Genomics Landscape, NHGRI Director Eric Green spotlights the Centers of Excellence in Genomic Science (CEGS) Program evaluation.
… involve strengthening the connectivity of particular pathways in the brain. The researchers propose that either …
The Genomics Landscape
In the September 3, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about the Impact of Genomic Variation on Function (IGVF) Consortium, the 2020 Genomic Innovator Awards and more.
… and their regulatory elements, cell types, and biological pathways. The IGVF Consortium is being designed to advance … on Genomics and Global Health, as well as Chief of the Metabolic, Cardiovascular, and Inflammatory Disease Genomics … the genomic, social, and cultural determinants of metabolic diseases with implications for health disparities. …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… For example, the study entitled "Studies of Children with Metabolic and Other Genetic Diseases" evaluates individuals … with known or suspected genetic diseases, including metabolic diseases. You can read about this study by going to Studies of Children with Metabolic and Other Genetic Diseases [clinicaltrials.gov] If …
The Genomics Landscape
In the October 6, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., celebrates the 25th anniversary of the NIH Intramural Sequencing Center (NISC). a well-respected and highly used large-scale DNA sequencing center that exemplifies the evolution of the field of genomics and the ever-increasing abilities to produce prodigious amounts of genomic data.
… M.D., Ph.D. , as chief of the recently established Metabolic Medicine Branch within the Institute’s Intramural … Program. Dr. Venditti was selected for his expertise in metabolic diseases as well as his leadership and mentorship … became a senior investigator in the Medical Genomics and Metabolic Genomics Branch. Dr. Venditti will begin his …