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- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
… Diabetes Mellitus (Diabetes) … Diabetes mellitus is a disease characterized by an inability to make or use the … Insulin, Type II Diabetes, Type I Diabetes, Autoimmune Disease … Diabetes mellitus is a disease characterized by an inability to make or use the …
Educational Resources
A candidate gene is a gene whose chromosomal location is associated with a particular disease or other phenotype.
… whose chromosomal location is associated with a particular disease or other phenotype. … Genes, Chromosome, Phenotype, Traits, Disease, Linkage Analysis … The term candidate gene refers to … is believed to be related to a particular trait, such as a disease or a physical attribute. Because of its genomic …
Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
… a more profound understanding of the biological basis of disease will pave the way for more effective ways to … the quest to determine the genetic risk factors for adult-onset, Type II diabetes. Analyzing data gathered in family … clinical research endeavors extend far beyond searches for disease genes. researchers are studying knock-in mouse with …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… tend to occur together and are associated with a specific disease. … Fragile X Syndrome, Genetic Variation, Genetic Testing, Genetic Disease … A syndrome, as related to genetics, is a group of … tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. … A syndrome is …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
NEWS RELEASE
Final outcomes from the most comprehensive analysis to-date of humans and their microbiomes definitively link microbes and microbial activities with health problems.
… model microbiome-associated conditions: preterm birth, inflammatory bowel disease (IBD) and prediabetes. The goal … 37 weeks of pregnancy, is the second most common cause of neonatal death worldwide. Preterm birth instances also vary … could protect prediabetic patients against the onset of the full disease. It is possible that immunization …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … non-obesity related FTO variants had potential ties to non-inflammatory disorders of the cervix and chronic … the IL5-IL13 gene were linked to a type of esophagitis, an inflammatory condition in the esophagus.  Genes that …
Staff
Dr. Neil Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… Neil A. Hanchard, M.B.B.S., D.Phil. … Childhood-onset Essential Hypertension (COEH)  Childhood-onset … Although a role for genetics in the development of the disease has been supported, it is unclear whether this … or marasmic-kwashiorkor), characterized by more severe multisystem dysfunction. Despite decades of research, the …
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.
… is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … are present in an individual at birth, like sickle cell disease. Other diseases are caused by acquired mutations in a … Genome Research Institute.​​ ​ … Genetic Disorder, Genetic Disease, Gene Editing, Genetic Testing, Chromosomes … A list …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … to implicate specific variants as having an effect on disease because there are millions of variants in the human …