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News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… genital ulcers, as well as vision 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 … Dr. Daniel Kastner, M.D., Ph.D. News Release : Genetic mystery of Behcet's disease unfolds along the ancient …
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. … carry the sickle cell trait, which means they are carriers of the disease. Sickle cell disease is caused by a mutation … 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.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … . "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 … genes and provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome. … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage …
Staff
Dr. Suzanne Hart was the deputy director of the Medical Genetics and Genomic Medicine Fellowship Training Program until she retired in late 2023.
… her Ph.D. in Human Genetics from the Medical College of Virginia (now called Virginia Commonwealth University) in … used molecular and biochemical techniques to understand genetic diseases of the teeth, the oral cavity and the kidney. … uses molecular and biochemical techniques to understand genetic diseases of the teeth, oral cavity and kidney. Gum …
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 healthcare provider with specialized knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional …
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.
… Media Availability A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most … 2 diabetes; however, it remains unknown exactly how these genetic changes, known as variants, are distributed among … National Institutes of Diabetes and Digestive and Kidney Diseases; the National Institute on Aging; the National …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… They are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … 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 … Genetic markers are used to track the inheritance of a nearby gene that has not yet been identified, but whose …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… A complex disease is caused by the interaction of multiple genes and environmental factors. … physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic disease that is more directly caused by mutations in …