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- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- 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
- Multi-Omics for Health and Disease (Multi-Omics)1
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break … or no apparent trauma. … Osteogenesis imperfecta (OI) is a genetic disorder that causes a person's bones to break … by a medical team including the child's own doctor, and genetic, orthopedic and rehabilitation medicine. Supportive …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… research that will have a direct impact on patients with genetic disorders. Ms. Iriele's summer project was to assist … around the world. "In Nigeria, there is a high rate of genetic malformations due to a high fertility rate," said Ms. … … Summer interns help expand a critical resource for diagnosing patients … Three summer interns advanced …
For Teachers
The genetic timeline lesson plan gives students an historical perspective of the discoveries that led to our present understanding of the human genome.
… The genetic timeline lesson plan gives students an historical … development of technology to scientific progress. … The genetic timeline activity may be most effectively done at the … take two periods. Preparation Print out two copies of the Genetic Timeline  boxes of discoveries. Use one as the master …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis and muscular dystrophy. …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… a research program focused on using genomic tools and genetic manipulation of model systems to decipher genome … His primary areas of interest include the development and diseases of melanocytes, the cells responsible for … will be revealed through the application of advanced genetic and genomic approaches to the study of mouse genetic …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… practices, and standards that can be generalized across diseases and populations. It will also generate a … diverse populations; 2) persons with and without specific diseases; 3) harmonized and standardized phenotypic and …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… William J. Pavan, Ph.D., senior investigator in the NHGRI Genetic Disease Research Branch. "The gene therapy is … on gene therapy for NPC1 also has the potential to treat genetic disorders with some similar features. These might … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… Newborn Genetic Screening … Newborn screening is testing performed on … detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family Health History, Genetic Counselor, … on newborn babies to detect a set of known genetic diseases. Typically, this testing is performed on a blood …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… the diagnosis, management, and counseling of patients with genetic disorders. Combined residents gain broad experience … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% … Medical Genetics, Clinical Genetics, Molecular Genetics, Genetic Disorders … An opportunity for medical school …