Search Results
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 … book. He served as director of the National Human Genome Research Institute at the NIH from 1993-2008. Dr. … of affected sib pairs, and then moved on to perform genome-wide association studies (GWAS), and has subsequently …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders … organ transplantation, are used for treatment. This study will evaluate patients with MMA and cobalamin disorders … and vitamin therapies are used for treatment. The study seeks to learn more about the genetic causes of the …
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… Dr. Erin Ramos is the Director of the Division of Genome Sciences at the National Human Genome Research … chaired the Data Access Committee (DAC) for the Genetic Association Information to provide access to some of the first genome-wide association studies in dbGaP, and currently serves on …
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 study is to conduct dedicated, systematic, and long-term …
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 … participants, and we still need more volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. … will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be …
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 … If you join this study, we will: Ask you to donate a blood or saliva sample …
Talking Glossary
Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la investigación genética para asociar variaciones genéticas especÃficas con ciertas enfermedades.
… Estudio de asociación de genoma completo (GWAS) … Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la … Un estudio de asociación del genoma completo (GWAS) es un enfoque de investigación que se emplea para … Un estudio de asociación de genoma completo (GWAS por sus siglas en inglés) es un enfoque utilizado en la …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… 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). … advancing our understanding of the complexity of our own genome and, in turn, improve human health." This year, 416 …
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.
… Study of millions of people from diverse ancestral groups … The authors include researchers at the National Human Genome Research Institute (NHGRI), part of the National … researchers accumulated data from 201 previous genome-wide association studies, including about 1.65 million …