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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… … For almost 30 years, Dr. Aksentijevich has used genetic and genomic approaches to understand human … system. Dr. Aksentijevich subsequently discovered the genetic basis of two disorders in which interleukin 1b plays … ancestral origins, genotype-phenotype studies, and further genetic heterogeneity of periodic fevers. Am J Hum Gene,t …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… have made a good start in identifying and understanding genetic mutations that have evolved over thousands of years … today Africans and people of African ancestry with these genetic mutations have a higher risk of kidney disease. … . "This should include more comprehensive DNA sampling and genetic characterization of Africans and the people of the …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society.
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… components of human disease. He is interested in studying genetic mutations that lead to perturbations in normal … and birth defects. His laboratory focuses on identifying genetic variants that alter an individual's risk of … of affected Irish families. This team has identified human genetic variants in the majority of the genes encoding the …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… with MMA and related disorders to learn more about the genetic causes of the various types of these inherited … with MMA and cobalamin disorders to learn more about the genetic causes of these inherited metabolic disorders and the … sometimes with little warning. There is no cure for any genetic MMA syndrome, but special diets, medication and …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to … treatments, and better ways of managing diseases with genetic components. Participants in studies are actively … Descent Attention Deficit Disorder with Hyperactivity Genetic Analysis of Attention Deficit Hyperactivity Disorder …
News Release
North Asians may be more closely related to Eastern and Northern Europeans than previously thought.
… sequences of 175 ethnic Mongolians to existing genetic variation data. "Until now, there has been little … medicine." The researchers constructed a high quality genetic variation panel that represents people from six … discovered that Mongolians share the largest segments of genetic variation inherited from a common ancestor shared …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… well-characterized for decades, less is known about the genetic and developmental processes responsible for this condition, making genetic counseling and molecular diagnosis difficult. The Brooks laboratory integrates clinical and genetic data from uveal coloboma patients with molecular, …
Clinical Research
The CLINSEQ® Study seeks to learn about the role that your genes play in your health.
… such as diabetes and high cholesterol, as well as for genetic testing. Participants get the results of all their testing (except the genetic tests) about one month after their visit. Study members receive the results of their genetic testing when they are available. There are many goals …
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… ancestry-related genomic variation in African-Americans. … Genetic Disorder, Genetic Condition, Gene Variation, Gene Mutation, African …