Search Results
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.
… A RUNX1 Longitudinal Natural History Study was launched by a team of NHGRI investigators at the … .  To learn more or enroll in the Natural History Study, email natalie.deuitch@nih.gov . … The purpose of this … be collected for in-depth testing: Whole exome or whole genome sequencing, RNA sequencing on blood precursors, a SNP …
News Release
NIH will fund researchers to develop computational approaches to figure out which differences in DNA make people more susceptible to disease.
… genetic variants - in the less-studied regions of the genome that are responsible for regulating gene activity. A … with a disease, researchers typically conduct a genome-wide association study (GWAS), which compares the genomes of …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… The CLINSEQ® Study seeks to learn about the role that your genes play in … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be … on its head. Trans-NIH Study Explores Medical Role for Genome Sequencing 2007: Patients with Cardiovascular Disease …
Clinical Research
The goal of this study is to learn more about the genetic contributions to the severity of disease of COVID-19.
… We appreciate your interest in the COVIDcode study. We are not accepting new participants at this time. … contáctenos a (240) 274-6777 o covidcode@nih.gov . This study aims to learn more about the genetic contributions to … test positive for our main analyses.  … If you join this study, we will: Ask you to donate a blood or saliva sample …
Educational Resources
Personalized medicine is an emerging practice of medicine that uses an individual's genetic profile to guide decisions made in regard to the prevention, diagnosis, and treatment of disease.
… prevention, diagnosis, and treatment of disease. … Human Genome Project, Genetic Counseling, Genome-Wide Association Studies (GWAS), Pedigree, Pharmacogenomics, …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
… the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). … … particularly for using computational approaches to study the molecular innovations driving diversity in early …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… genes and his leadership of the international Human Genome Project, which culminated in April 2003 with the … of affected sib pairs, and then moved on to perform genome-wide association studies (GWAS), and has subsequently become an …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic … more requests for participation than we can accept. Our study team will review medical records to determine if the … autoinflammatory diagnoses. … To learn more about this study, or to apply to participate, contact tina.romeo@nih.gov …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National … has performed over 6,000 studies  looking at the association of specific genomic variants and cardiovascular … researchers accumulated data from 201 previous genome-wide association studies, including about 1.65 million …