Search Results
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… Disease Genomics (CCDG) are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and … for Common Disease Genomics … Collaborative large-scale genome sequencing effort to identify rare risk and protective …
Outreach
The Genome: Unlocking Life's Code exhibition celebrates the 10th anniversary of the initial sequencing of the human genome.
… D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th … of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - … exhibition celebrates the 10th anniversary of the initial sequencing of the human genome. ​ … Human Genome Sequencing, …
Research Funding
NSIGHT explores the implications, challenges and opportunities with the use of genomic sequence information in the newborn period.
… and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI). Funds are used to … of data available for analysis in the newborn period. Clinical research that will advance understanding of specific … (ELSI) of the possible implementation of genomic sequencing of newborns.  Each research project collects a …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher … (301) 827-1877 For Basic Research, Collaboration or Clinical Trials: Ellen Sidransky, M.D. … Team … Current Research and Resources … Gaucher Disease Clinical Studies at NIH … Gaucher Disease Clinical Studies at …
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.
… HL7 Fast Healthcare Interoperability Resources (FHIR) is a clinical data standard and an application programming … setting.   …  As the sun came up on 1997, the Human Genome Project (then in its seventh of 13 years) was adding … sequence to public databases weekly, as large-scale DNA sequencing had advanced substantially. At that time, it …
Clinical Research
A study where both genotypic (individual genetics) and phenotypic (individual disease characteristics) patient data would be analyzed using advanced data-analytics programs to derive meaningful associations for the development of prevention, management and treatment strategies.
… was launched by a team of NHGRI investigators at the NIH Clinical Center in early 2019. For more information, see … Your blood sample, when processed for next generations sequencing, can reveal changes in the DNA of your blood … be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
Research at NHGRI
The NIH Intramural Sequencing Center is a multi-disciplinary genomics facility that emphasizes the generation and analysis of DNA sequence.
… The NIH Intramural Sequencing Center (NISC) , established in 1997, is a … procedures. NISC's role within the National Human Genome Research Institute (NHGRI), and more broadly across … methods to analyze genomics data with applicability to clinical and basic science questions that were thought to be …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare … individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 …
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.
… R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked Biobanks … Platform … Amyloidosis in the All of Us Research Program Clinical Genetics and Therapeutics Session A March 14, 2024, … Predicting Genetics Referrals P224 Using long-read sequencing for genomic and epigenomic analysis in …
The Genomics Landscape
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… Project Grant Program ( PA-19-056 ). …  Since 2011, the Clinical Sequencing Evidence-generating Research (CSER) consortium has … in June 2023. Over the past two decades, the power of genome sequencing has become evident in disciplines like …