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News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix of genetic and environmental risk factors, but their interaction …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy …
Fact Sheets
Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or more genes and clues about where a gene lies on a chromosome.
… Genetic mapping offers evidence that a disease transmitted from parent to child is linked to one or … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage mapping - can offer firm evidence that a disease transmitted from parent to child is linked to one or …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … Genetic counseling refers to guidance relating to genetic … genetic tests designed to help estimate the risk of a disease. The genetic counselor conveys information to address …
Media Availability
Type 2 diabetes is a disease that affects ten percent of the world's population, but the genetics underlying the disease remain poorly understood.
… A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published today in the … 2 diabetes; however, it remains unknown exactly how these genetic changes, known as variants, are distributed among …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a … In 2011, Dr. Gahl and his UDP colleagues identified the genetic difference in the NT5E gene that causes a rare and …
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a known physical … Genetic Marker, DNA Sequence, Chromosome, Genetic Disease, Inheritance … A genetic marker is a DNA sequence with a known physical … a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or condition), when discussed in the context of … diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in …
Clinical Research
A study with the goal of finding the genetic cause of familial Mediterranean fever (FMF) and several novel and undiagnosed causes of autoinflammatory disease.
… This study was initially launched in 1994 to identify the genetic cause of familial Mediterranean fever (FMF). Since … several novel and undiagnosed causes of autoinflammatory disease. For more information, see Protocol 94-HG-0105 or … and the environment. Our improved understanding of the genetic basis of autoinflammatory diseases has revolutionized …