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- 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
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
Event
On June 17-18, 2021, NHGRI hosts a workshop, Multi-Omics in Health and Disease: Current Applications, Challenges and Future Directions.
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) … Duane's Retraction Syndrome - Yahoo! Groups Genetics and Rare Diseases Information Center Finding Reliable Health …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… disease pathophysiology, genetics and treatments for rare inborn metabolic errors. We will also review the … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. … A joint NHGRI-NCATS hosted … disease pathophysiology, genetics and treatments for rare inborn metabolic errors. … Event …
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.
… WAGR syndrome is a rare genetic condition caused by a deletion of a group of … of cancer, and mental disability. … WAGR syndrome is a rare genetic condition that can affect both boys and girls. … Tumor Study National Eye Institute (NEI) Genetics and Rare Diseases Information Center Finding Reliable Health …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and at the National Human Genome Research … been identified for ~85% of genes associated with human diseases. Therefore, when a candidate gene for a disease or … Human Genome Research Institute. … Raman Sood, zebrafish, rare diseases, common diseases, genetic disease, animal …
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).
… Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer … heart and other physical problems in children who have rare metabolic conditions, or to treat children with certain … Genomics, Inheritance, Ancestry, Genetic Disease, Rare Disease, Cloning, Gene Therapy … Genetics refers to the …
For Patients and Families
A child has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
… will sometimes say that a child has an "undiagnosed rare condition" or an "undiagnosed genetic condition" when … years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between … because there usually are so few cases of specific rare diseases, there is often not a doctor who has seen many (or …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… suggests sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  … samples were deemed abnormal, 60 of which contained a rare trisomy. Trisomy 7 was observed most frequently in both … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …