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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 … some examples are listed below. IEM Examples Urea cycle disorders Ornithine transcarbamylase deficiency, … Tyrosinemia, phenylketonuria, homocysteinuria Carbohydrate disorders Galactosemia, fructosemia Mitochondrial 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 …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in 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. … A new drug treatment, hydroxyurea, which is an anti-tumor drug, appears to stimulate the production of fetal … Sickle cell disease is a group of inherited red blood cells disorders … Sickle Cell Disease, Inherited Blood Disorders, Gene Mutation, Hemoglobin-beta, Chromosome 11, Red …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in 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 …
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. … performed on newborn babies to detect a wide variety of disorders. …
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 … Genetic Disorders …
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 … Genetic Disorders …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and …