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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. … Human Genome Project, Genetic Counseling, … (GWAS), Pedigree, Pharmacogenomics, Genetic Variation, Gene … Personalized medicine is an emerging practice of … in regard to the prevention, diagnosis, and treatment of disease. Knowledge of a patient's genetic profile can help …
Talking Glossary
Cell-free DNA testing is a laboratory method that involves analyzing free (i.e., non-cellular) DNA contained within a biological sample, most often to look for genomic variants associated with a hereditary or genetic disorder.
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.
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. … Fragile X syndrome is the most common form of … 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 …
Staff
Dr. Francis Collins is 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 … and most recently, genes for type 2 diabetes, and the gene that causes Hutchinson-Gilford progeria syndrome, a rare … group discovered that a point mutation in the lamin A gene ( LMNA ) activates a cryptic splice donor, resulting in …
Staff
Dr. Settara Chandrasekharappa is an associate investigator in NHGRI's Cancer Genetics and Comparative Genomics Branch.
… on adopting genomic technologies for identification of disease genes and the underlying molecular mechanisms leading … as a member of the collaborative group in search of the gene responsible for early onset breast cancer ( BRCA1 ), CGU … CGU to participate in physical mapping efforts of disease gene regions and positional cloning efforts of genes involved …
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 …
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 …
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. 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 … influences on eating behaviors: Characteristics and associations with weight management confidence. Eating …