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Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… as a post-doctoral fellow on the positional cloning of the gene mutated in patients with familial Mediterranean fever … a CLIA-certified laboratory for autoinflammatory disease diagnostics in the IDS. Her scientific … to the linkage mapping and positional cloning of the gene mutated in familial Mediterranean fever (FMF). She went …
News Release
NHGRI has appointed Chris Gunter, Ph.D., as a senior advisor for genomics engagement. In this role, Dr. Gunter will advise the NHGRI director and the institute on issues and challenges associated with engaging the public about genomics and genomic medicine.
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… in 2016. Dr. Adeyemo works on the genomics of complex disease, focusing on cardiometabolic disorders and complex … of cardiometabolic disorders and the genetics of complex disease in childhood. Cardiometabolic disorders, in … population), his studies have progressed through candidate gene studies to genome wide association studies and …
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
Event
The Journeys in Human Genetics and Genomics Colloquium is part of a training partnership between ASHG and NHGRI to showcase the depth and breadth of exciting scientific, clinical, and societal elements of human genetics and genomics at an introductory level as well as to illustrate the myriad associated career opportunities.
… Human Genome Project And Its Impact On The Study Of Human Disease Book Chapter - 2021  The Human Genome Sequence … Human Genome Project And Its Impact On The Study Of Human Disease Book Chapter - 2021  The Human Genome Sequence … Human Genome Project And Its Impact On The Study Of Human Disease Book Chapter - 2021  The Human Genome Sequence …
Staff
Dr. Susan Persky is an associate investigator in the Social and Behavioral Research Branch at the National Human Genome Research Institute.
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… communicating complex concepts related to processes like gene-environment interactions, polygenic risk, genomic … to parents about their child’s risk factors, a gene-environment interaction approach may be particularly … helpful. In addition to being more accurate than gene- or environment-only approaches, it highlights that risk …
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.
… in regard to the prevention, diagnosis, and treatment of disease. … (GWAS), Pedigree, Pharmacogenomics, Genetic Variation, Gene … in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile can help …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… intellectual disability caused by a mutation in the FMR1 gene. … are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is … expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called …
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.
… cholesterol levels, a major risk factor for heart disease. The study, published in the journal Nature , was … understanding of the effects of genomic variation on disease, researchers urge the need to include as many diverse … of specific genomic variants and cardiovascular disease. However, the design of these studies overwhelmingly …
Staff
Dr. Francis Collins was a senior investigator in Center for Precision Health Research.
… physician-geneticist noted for his landmark discoveries of disease genes and his leadership of the international Human … for cystic fibrosis, neurofibromatosis, Huntington's disease, a familial endocrine cancer syndrome, and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare …