Search Results
Genetic Disorders
Familial Mediterranean Fever is an inherited disease, characterized by recurrent attacks of fever, inflammation, painful, swollen joints, and ankle rash.
… Familial Mediterranean Fever (FMF) is an inherited disease, characterized by recurrent attacks of fever, … under control, possibly by inhibiting the immune inflammatory response. There are more than 30 mutations in … in establishing a correct diagnosis of FMF is the patient's ancestry. Testing for the following can also be helpful: …
Clinical Research
The INSIGHTS study is exploring sickle cell disease in adults.
… Microbiome and Environmental Contributions to Sickle Cell Disease and Leg Ulcers Study (INSIGHTS) study is exploring sickle cell disease in adults by looking at many factors, including … of this study is to learn how these factors influence the onset and development of sickle cell leg ulcers. While leg …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Down Syndrome (Trisomy 21) … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … Genetic Disease, Down Syndrome, Trisomy, Chromsomes, Prenatal … which vary among individuals. … Down syndrome is a genetic disease resulting from a chromosomal abnormality. … …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… medicine to help those with autoimmune disorders such as inflammatory bowel disease or rheumatoid arthritis. … Improved Understanding of … John J. O'Shea, M.D., is the scientific director at NIH's National Institute of Arthritis and Musculoskeletal and …
Educational Resources
Diabetes mellitus is a disease characterized by an inability to make or use the hormone insulin.
… Diabetes (Diabetes Mellitus) … 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 … Insulin is needed by cells to metabolize glucose, the body's main source of chemical energy. Type I diabetes, also …
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 … for a new form of methylmalonic acidemia. However, NHGRI's clinical research endeavors extend far beyond searches for …
Event
On May 1–2, 2018, the National Human Genome Research Institute (NHGRI) sponsored this NHGRI workshop in Silver Spring, Maryland.
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 …
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 …