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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 … recurrent inflammation of the membrane that surrounds the brain and spinal chord (meningitis), headaches and … painful, swollen joints, and ankle rash. … Genetic Disorders …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… Other serious sites of bleeding include the bowel, the brain and soft tissues. These types of bleeding can lead to … treatment, and improved patient education. … Hemophilia is inherited in an X-linked recessive pattern. A condition is … the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to … progressive destruction of the nervous system. … Genetic Disorders …
Research at NHGRI
The Medical Genetics Branch studies inherited disorders of metabolism and of human development.
… Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB … Genetics Branch … The Medical Genetics Branch studies inherited disorders of metabolism and of human development. ​ …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… bodies. Inborn errors of metabolism (IEM) are a group of disorders that causes a block in a metabolic pathway leading … What causes the IEM and how are the different forms inherited? The IEM are caused by mutations (or alterations) … as well as it should. Most often these altered genes are inherited from parent(s), but they may also occur …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… for germline RUNX1 variants (those that are typically inherited and present in nearly every cell in the body) to …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… associated with a specific disease or trait. A carrier has inherited a normal and a variant allele for a disease- or … carrier screening is performed to look for recessively inherited diseases when the suspected carrier has no symptoms …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… other organs, such as the heart and blood vessels in the brain. … ADPKD is usually an adult-onset condition. This … with kidney failure from other causes. … ADPKD is inherited as an autosomal dominant trait in families. The … Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding …
News Release
Extending noninvasive prenatal screening to all 24 human chromosomes can detect genetic disorders that explain miscarriage and abnormalities during pregnancy.
… screening to all 24 human chromosomes can detect genetic disorders that may explain miscarriage and abnormalities … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The … … Sequencing all 24 human chromosomes uncovers rare disorders … Extending noninvasive prenatal screening to all …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… are often shorter in stature than average. … OI is often inherited from an affected parent. The diagnosis of OI is … to decrease the need for surgery. … Most types of OI are inherited in an autosomal dominant pattern. Almost all … easily, often from little or no apparent trauma. … Genetic Disorders …