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News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… for Genetic Disorders) 527T. Surjo K. Sen: STEM9, a novel non-coding RNA on chromosome 9p21, is downregulated in … sequencing of urinary exosomes. (Clinical Genetic Testing) 2051T. Mariska Davids: A protein glycosylation … (Clinical Genetic Testing) 2129F. Marta Biderman Waberski: Prenatal presentation of an inherited chromosome 6p22. 3 …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is based on clinical symptoms and laboratory testing. A diagnosis of Gaucher disease is suspected in … platlets or signs of nervous system problems. Laboratory testing involves a blood test to measure the activity level … the four most common GBA mutations. Both enzyme and DNA testing can be done prenatally. A bone marrow or liver biopsy …
Staff
Dr. Sara Chandros Hull is a deputy scientific director in the Office of the Scientific Director and the director of NHGRI's Bioethics Core.
… and Berkman BE. Views of American OB/GYNs on the ethics of prenatal whole genome sequencing. Prenatal Diagnosis, 36(13):1250-1256 . 2016. [ PubMed ] … of Direct-to-Consumer Advertising for Clinical Genetic Testing," JAMA , 288(14): 1762-1766. 2002. [ PubMed ] Davis …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… of medical and mental health, followed by cognitive testing activities. While the adults spoke privately, Luke was kept occupied with some similar testing, which involved letter blocks and worksheets, as well …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… disease through diet and blood pressure control. Genetic testing for PDK1 and PDK2 is also available for prenatal diagnosis and preimplantation genetic diagnosis. … treatment for ADPKD is aimed at treating the kidney and non-kidney symptoms. Blood pressure is followed regularly. …
File
… Education Canada – Knowledge Organization (GEC -KO): Prenatal and preconception genetics … are evidence -based with expert input. GEC -KO is a non -profit organization and supports use of its content by … -modules/cardiogenetics/ 1. Prenatal Screening – Non -Invasive Prenatal Testing (NIPT) and Enhanced First Trimester …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… two samples differ. One such method is called noninvasive prenatal testing. This is a test to screen a pregnancy to determine …
Genetic Disorders
Hemophilia is a bleeding disorder that slows down the blood clotting process.
… hemophilia B have low factor IX clotting activity. Genetic testing is also available for the factor VIII gene and the factor IX gene. Genetic testing of the FVIII gene finds a disease-causing mutation in … and to diagnose hemophilia in a fetus during a pregnancy (prenatal diagnosis). It is sometimes used to diagnose …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… the gene associated with the true Marfan syndrome. Genetic testing of the FBN1 gene identifies 70 - 93 percent of the … germline cells of one of the parents (testes or ovaries). Prenatal testing for Marfan syndrome is available when the gene …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… of NF2 is also a key focal area for diagnosis. Genetic testing is also used to diagnose NF1 and NF2. Testing conducted before birth (prenatal) is helpful to identify individuals who have a …