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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
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, … … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …
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 … Disorder, Inherited Disorder, Family Health History, Ancestry, Genetic Disease, Clinical Study, Genetics Study … …
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.
… ancestral populations. “By mainly focusing on European-ancestry populations, we may have missed genomic variants … the health of all people,” says Cashell Jaquish, Ph.D., a genetic epidemiologist and program officer within the … of Health. … Sarah E. Graham et al. The power of genetic diversity in genome-wide association studies of …
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
… new molecules involved in diabetes. … In a new large-scale genetic analysis, scientists have found a set of small RNA … author of the study. … About NHGRI and NIH … Large-scale genetic analysis shows microRNAs in human pancreas associated with diabetes … In a new large-scale genetic analysis, National Institutes of Health (NIH) …
Staff
Vence Bonham is the acting deputy director for NHGRI and an associate investigator in NHGRI's Social and Behavioral Research Branch.
… also studied health care professionals’ understanding of genetic variation, using the GKAI scale, which he developed, … to measure their knowledge, beliefs, and attitudes about genetic variation. This research examines clinical decision … … Vence Bonham, health disparities, race and ethnicity, ancestry, genetic variation, sickle cell trait, sickle cell …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate … the researchers designed questions about 63 different genetic conditions. These included some well-known … cystic fibrosis and Marfan syndrome, as well as many rare genetic conditions. These conditions can show up in a variety …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… History Study of Patients with GNE Myopathy collects genetic and medical information from people with GNE … trials. … GNE Myopathy is a rare ( autosomal recessive ) genetic disorder that causes progressive skeletal muscle … as a therapy for GNE Myopathy. … This study collects genetic and medical information from people with GNE Myopathy …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… mechanisms, and to tackle the challenge of identifying genetic modifiers. Although GD is classically divided into … clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Ellen Sidransky, clinical genetics, Gaucher disease, Parkinson disease, genetic disorder … Dr. Ellen Sidransky is a pediatrician and …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … presumed, mutations that would almost certainly lead to a genetic condition. … Out of almost 1,000 volunteers whose … that 34 had the specific condition linked to their genetic mutation. These findings indicate that 3 percent or …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie L. Lewis, Sc.M., C.G.C. … Katie Lewis is a genetic counselor in the Genomic Services Research Program (GSRP). She got her degree in genetic counseling from the Johns Hopkins University/National … and Related Disorders. She has worked at the NIH as a genetic counselor for eight years. Katie does research on …