Search Results
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate … trials in Mendelian disorders. The series will follow one of two formats: (1) a journal club joined by one of the … study design, preclinical research, regulatory affairs, data management, funding/budgets, working with industry and …
Talking Glossary
La hibridación in situ es una técnica de laboratorio empleada para localizar una secuencia de ADN o ARN en una muestra biológica.
… Hibridación in situ … La hibridación in situ es una técnica de laboratorio empleada para localizar … La hibridación in situ es una técnica de laboratorio empleada para localizar … La hibridación in situ es una técnica de laboratorio empleada para localizar …
Event
The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation.
… The NHGRI Center for Genomics and Data Science Research is pleased to host Dr. Ewan Birney for a special seminar to celebrate the center’s first year of operation. Dr. Birney’s own research journey matches well … biology to make breakthroughs in our understanding of genomic code. Please join us for what is sure to be a …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural Research. Dr. Hanchard will head the Childhood … Genomics Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric … Dr. Neil Hanchard joins NHGRI as a clinical investigator …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… Equipped with the power of genomic information and state-of-the art resources available … Genome Research Institute (NHGRI) are leading a new era in medicine - one where a more profound understanding of the … determine what patients understand about the storage and use of DNA for future research, investigations into how …
Fact Sheets
La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar y mapear el material genético en las células de un individuo​.​ ​
… La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … hfis.jpg] ¿Qué es la HFIS? La hibridación fluorescente in situ (HFIS) brinda a los investigadores una manera de … Hibridación fluorescente in situ … La hibridación fluorescente in situ brinda a los investigadores una manera de visualizar …
Policies and Guidance
A webpage with information and associated FAQs that describe various expectations for data sharing that are specific to NHGRI-supported studies.
… registration in dbGaP is required for large-scale human genomic studies, including those submitting data to AnVIL and studies with an Alternative Data Sharing … for Samples Lacking Explicit Consent for Future Research Use and Broad Data Sharing    Investigators seeking to …
Policies and Guidance
Frequently Asked Questions regarding the NHGRI's Metadata and Phenotypic Data Sharing Expectations.
… Data sharing is an important aspect of the research endeavor that ensures maximal use of participants’ data for scientific discovery, rigor and … NHGRI uses the NIH definition of metadata provided in the Final NIH Policy for Data Management and Sharing : Metadata  are “data that …
Event
To bring together communities of researchers working in machine learning (ML), NHGRI hosted the Machine Learning in Genomics: Tools, Resources, Clinical Applications and Ethics workshop on April 13-14, 2021.
…  All slides are in PDF format April 13, 2021 11:00 a.m. – 5:00 p.m. EDT 11:00 … a.m. - Welcome Co-chairs: Trey Ideker, Ph.D. , University of California San Diego Mark Craven, Ph.D. , University of … ethical and socially responsible AI systems in Health Care    4:00 p.m. - Danton Char, M.D. , Stanford University …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… gene therapy has grown tremendously since the discovery of CRISPR, the vast majority of work undertaken by scientists … funded by NHGRI or other NIH Institutes takes place in the petri dish and in nonhuman organisms such as mice or … test new therapies. In the clinic, there are proposals to use genome editing as a treatment for disease. Many diseases …