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Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… in individuals with mitochondrial disease. … Clinical studies give us a better understanding of how genes can cause … choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… heart attack and stroke). Based on previous epidemiology studies, it is anticipated that the prevalence of clinically … proband may also be invited to participate in these G2P studies to further characterize the biological significance …
Research at NHGRI
CRGGH facilitates understanding of the relationship between genetic variation and population differences in disease distribution to inform health disparities.
… of the relationship between human genetic variation and population differences in disease distribution, with the … disease, and variable drug response at the individual and population levels. We have the following primary objectives: … to these resources.   Develop genetic epidemiology and population genetics approaches that will facilitate the …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… of inheritance, cytogenetics, variation and mutation, population genetics, molecular medicine, gene mapping, risk … to conduct research and to critically evaluate research studies. Thesis Proposal Development  (1st and 2nd years, … to key contemporary public health questions. Special Studies and Research  (2nd and 3rd years, JHU) provides the …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… people of European ancestry. “Recently, more and more studies incorporate multi-ancestry genomic data into the … existing health disparities. Recently, more and more studies incorporate multi-ancestry genomic data into the …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) … the genome, rather than just single genes. Pharmacogenomic studies may also examine genetic variation among large groups … a clone refers to any genetically identical cell in a population that comes from a single, common ancestor. For …
Educational Resources
Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… concern, with approximately ten percent of the world's population diagnosed with the disease or likely to develop it in their lifetime. Previous studies into the genetics of diabetes risk have identified … is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… the mutant pyrin in FMF might be helping the Mediterranean population in some way," said Jae Jin Chae, Ph.D., senior … selection for FMF mutations in the Mediterranean population. The team turned to Yersinia pestis , the infamous … selection for FMF mutations in the Mediterranean population. It turns out Yersinia pestis contains a …
Educational Resources
Ancestry-informative markers are sets of polymorphisms for a DNA sequence found in different frequencies between populations from different geographical regions.