Search Results
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Condition Study Albinism Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Albinism Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism Alkaptonuria Study of … Alstrom Syndrome Clinical and Molecular Investigations into Ciliopathies Amino Acid Metabolism Clinical and …
History of Genomics Program
The NHGRI History of Genomics Archive is a digital archive that holds a wealth of materials from the early stages of the Human Genome Project and provides a unique and detailed look into how the field has developed in the decades following.
… for any materials upon request. … The NHGRI History of Genomics Archive is composed of the papers and materials of … Human Genome Project provides a unique and detailed look into how the field has developed in the decades following the … environment and your materials. We are working on integrating existing metadata from that resource into our new …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
… Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis. … … Institute (NHGRI), prepares a tea party every time her patient Jojo (last name withheld for privacy) comes to visit. … of which are thought to be caused by alterations in the patient’s DNA. Each rare disorder affects a small population, …
15 Ways Genomics Influences Our World
We are learning how our genomes serve as blueprints for life.
… Resources for Healthcare Providers: NHGRI - Genetics/Genomics Competency Center (G2C2) Website: Vetted Repository … Mapped to Genomic Competencies Health Education England - Genomics Education Programme Courses Genetics Education Canada Knowledge Organization (GEC-KO): Point-of-Care Tools for Primary Care Providers … Introduction … How …
About Genomics
NHGRI considers the ethical, legal and social aspect of genomics research in our work, including these key policy issues
… NHGRI is committed to driving the responsible use of genomics in society in order to advance knowledge and ensure that genomics benefits the health of all humans. To do this, we consider the ethical, legal, and social aspect of genomics research in our work, including these key issues. … …
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.
… important step towards providing high-quality, equitable care for everyone. This research was funded in part by the … credits” that allow researchers to conduct cloud-based genomics research on the AnVIL platform. In partnership with … revealed challenges related to attracting new trainees into the field, such as perceptions of low salaries in this …
The Genomics Landscape
In the January 7, 2021 edition of The Genomics Landscape, Dr. Eric Green details NHGRI's new agenda on enhancing genomics workforce diversity.
… the pandemic and to pursuing exciting opportunities in genomics. The Genomic Medicine Working Group of the National … importance of human genetic and social variation. Well into this millennium, prevailing opinions stressed the … of genetic findings, misapplication in clinical care, and mistrust among excluded populations — redress of …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… to sequence and map all the genes of our species. … About Genomics …
The Genomics Landscape
In the June 2018 issue of The Genomics Landscape, NHGRI Director Eric Green highlights the success of The Cancer Genome Atlas.
… are available on the ' Establishing a 2020 Vision for Genomics ' website. NHGRI will host a Town Hall at the … based on the TCGA data. The PanCancer Atlas was divided into three main categories, each anchored by a summary paper … Can Control Antitumor Immune Function in Liver One Patient's Diagnostic Odyssey Ends at the NIH Clinical Center …
The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… fourth annual International Summit in Human Genetics and Genomics at NIH last month. The month-long summit is designed … infrastructure, systems, and technologies in genetics and genomics. The summit, which aims to help the international … Annual Meeting held Oct. 15-19, 2019, a workshop on “Integrating the Past and Future of ELSI Research” at the …