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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 … to a study by researchers at the National Institutes of Health and other institutions. Because of the way data … sequencing all 24 chromosomes to uncover other, rare disorders in pregnancy. Image Credit: Getty Images.  The …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… OI type II) to average. There are four well-known types of OI. These types are distinguished mostly by fracture … People who have type I OI have bone fractures during childhood and adolescence often due to minor trauma When … easily, often from little or no apparent trauma. … Genetic Disorders …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… (PKD) is a genetic disorder characterized by the growth of numerous cysts in both kidneys. The progressive expansion … 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 …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 … … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … once in every 10,000 to 20,000 individuals. … Genetic Disorders …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… known as von Recklinghausen's NF, is the more common of the types. It occurs in approximately 1 in 4,000 births. … occurs less frequently- 1 in 40,000 births. Occurrences of NF1 and NF2 are present among all racial groups and affect … affect the brain, spinal cord, nerves and skin. … Genetic Disorders …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process … acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… disease.  … Researchers at the National Institutes of Health and their colleagues have identified genomic … to be a potential treatment for other inflammatory skin disorders or disorders related to tissue scarring, whether it is scarring …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… One of the first human studies on how mitochondrial function … altered B cell function in children with mitochondrial disorders led to a weaker and less diverse antibody response … activity of immune cells in children with mitochondrial disorders and found that B cells, which produce antibodies to …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… … As researchers continue to unravel the many mysteries of genomics, they require more and more sophisticated … find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers at the … questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic …