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Educational Resources
Genetic discrimination is prejudice directed against people who have or may have a genetic disease.
… Genetic Discrimination … Genetic discrimination is prejudice directed against people who have or may have a genetic disease. … Genetic Discrimination, GINA, Genetic Information Nondiscrimination Act, DNA, Healthcare … Genetic discrimination. Genetic discrimination refers to the …
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… the disorder from both parents. When both parents have the genetic defect, there's a 25 percent chance that each child … some parents may choose not to continue the pregnancy. Genetic counselors can help parents make these difficult … with in vitro fertilization, called pre-implantation genetic diagnosis (PGD), enables parents who carry the sickle …
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. … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … of physical traits of people with many different inherited diseases around the world, including Asia, the Indian …
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 … and to understand their function. One of these tools is genetic mapping. Genetic mapping - also called linkage mapping - can offer … To produce a genetic map, researchers collect blood or tissue samples from …
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 disorders that a specialized healthcare 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.
… 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 … 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.
… 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 … Dr. Gahl said. Once researchers better understand this genetic pathway, it could be relevant to the study of viruses …
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 location on a chromosome. Genetic markers can help link an inherited disease with the …
Educational Resources
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 a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. …
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 … Autoinflammatory diseases are a group of disorders characterized by seemingly … and the environment. Our improved understanding of the genetic basis of autoinflammatory diseases has revolutionized …