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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Enhancing Opportunities in Computational Genomics and Data Science1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… Genome-wide association studies involve scanning markers across the genomes of many …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… Disease, Type C1. His preclinical proof-of-principal studies using MMA murine models have helped enable two … mRNA therapy and the other, AAV-mediated nuclease-free genome editing. In addition, he is a member of NCATS’s … gene therapy approaches, such as AAV gene delivery, genome editing, and mRNA therapy, to cure rare genetic …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… similar faces (elongated face, almond-shaped eyes, wide nose, small ears); eye problems; feeding problems that … that may only be found using more sophisticated lab studies such as comparative genomic hybridization, MLPA, additional FISH studies performed in a research laboratory or using specific …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… erythematosus (SLE) and other similar conditions. Later studies found a protein called the lupus anticoagulant in a … and certain autoimmune diseases have also been noted in association with APS. Pulmonary hypertension (high blood … of the uterus to its normal size). Thrombocytopenia An association with immune thrombocytopenia (low platelets) has …
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).
… describes the study of all of a person's genes (the genome). … Genetics is a term that refers to the study of … one generation to another. Genetics involves scientific studies of genes and their effects. Genes (units of heredity) … that describes the study of all of a person's genes (the genome), including interactions of those genes with each …
15 Ways Genomics Influences Our World
Genomics is advancing the study of individual and communities of microbes.
… difference between 2018 and 15 years ago when the Human Genome Project was completed, is that genomics is now used … "flu shot." Even so, just one mutation in the virus's genome can make a big difference in the severity of someone's … next generation. Now that we can track various microbes' genome sequences very accurately, we can see that antibiotic …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, … that carry genes). As we unlock the secrets of the human genome (the complete set of human genes), we are learning … by researchers at or associated with the National Human Genome Research Institute.​​ ​ … Genetic Disorder, Genetic …
15 Ways Genomics Influences Our World
Genomics is transforming how we study, diagnose and treat cancer.
… genomes have changed? Cancer is caused by changes in your genome, but advances in DNA sequencing technology are leading … group of genetic diseases that result from changes in the genome of cells in the body, leading them to grow … uncontrollably. These changes involve DNA mutations in the genome. Our cells are constantly finding and fixing mutations …
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… through case-based learning. The genetic and genomic case studies created by the ISCC Case Studies Working Group members represent examples of scenarios … Pharmacogenomic In collaboration with the National Human Genome Research Institute Title: Mitochondrial DNA mutation …
Fact Sheet
Several regulations and policies stipulate the information that must be given to research participants prior to their enrolling in a study.
… intervention or interaction with the individual, and uses, studies, or analyzes the information or biospecimens; or  Obtains, uses, studies, analyzes, or generates identifiable private …