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Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… the hemophilia. Males are affected by X-linked recessive disorders much more frequently than females. A major … that slows down the blood clotting process. … Genetic Disorders …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… progressive destruction of the nervous system. … Genetic Disorders …
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 … A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal … cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, …
News Release
Researchers build a statistical model using family health history to improve disease risk assessment
Researchers at the National Human Genome Research Institute (NHGRI) have developed a new statistical model that can predict the risk for developing diseases by combining information about family member health and lifestyle factors from family members.
… its development depends strongly on a person’s genetic predisposition, combined with their environment and … Researchers need to replicate findings in other disorders. Since many families in the study had consistent …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… performed on newborn babies to detect a wide variety of disorders. … Newborn Screening, Genetic Disorder, Family … performed on newborn babies to detect a wide variety of disorders. … Educational Resources …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… the blood of a chemical known as phenylalanine. … Genetic Disorders …
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
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding … by the growth of numerous cysts in both kidneys. … Genetic Disorders …
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.
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … around FBN-1 inherited by descent and identified in a familial Marfan patient(also known as genetic linkage to the … once in every 10,000 to 20,000 individuals. … Genetic Disorders …