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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Disease NINDS: Tay-Sachs Disease Information Page Genetics Home Reference: Tay-Sachs disease GARD: Tay-Sachs …
Educational Resources
Fact sheets explaining complex concepts in genomics research to a non-scientific audience.
… (NHGRI) has produced this series of fact sheets to explain complex concepts in genomics research to a non-scientific … … Fact Sheets about Genomics … Fact sheets explaining complex concepts in genomics research to a non-scientific … X Chromosome, Y Chromosome … Fact sheets explaining complex concepts in genomics research to a non-scientific …
Talking Glossary
GMO (short for “genetically modified organism”) is a plant, animal or microbe in which one or more changes have been made to the genome, typically using high-tech genetic engineering, in an attempt to alter the characteristics of an organism.
Research at NHGRI
The Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch studies the genomic and social determinants of complex diseases.
… (MCIDGB) studies the genomic and social determinants of complex diseases. … Investigators focus, in particular, on … advances research into the role of culture, lifestyle, genetics and genomics in disease etiology, differential … that explore the patterns and determinants of common, complex diseases in populations in the United States and …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… and treatment strategies. Dr. Brooks applies Mendelian and complex genetics approaches to studying uveal coloboma in patients. … Brian Brooks, congenital malformation, Mendelian genetics, complex genetics … Dr. Brian Brooks is an adjunct …
Research Funding
Frequently asked questions for Investigator-Initiated Research on Genetic Counseling Processes and Practices FOAs (RFA-HG-20-048 and RFA-HG-20-049).
… Can the proposed research be centered within a specialty genetics clinic? Yes, the FOAs are seeking applications that … that have a genetic mechanism. Research within specialty genetics clinics may be proposed as long as it is broadly …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation American Kidney Fund …
Research at NHGRI
The Genetics and Molecular Biology Branch uses genomic technologies to study the human genome and other organisms and disease mechanisms.
… The Genetics and Molecular Biology Branch uses state-of-the-art … from underrepresented groups … Overview … Our Research … Genetics and Molecular Biology Branch … The Genetics and Molecular Biology Branch uses genomic …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… Other names for WAGR syndrome that are used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental … National Wilms' Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… COL1A2 . Additional Resources on Osteogenesis Imperfecta Genetics Home Reference: Osteogenesis imperfecta Medline … Imperfecta Medscape: Osteogenesis Imperfecta Medscape: Genetics of Osteogenesis Imperfecta … What is Osteogenesis …