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Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… or whether to have a fetus tested for thalassemia. Prenatal testing can be done around the 11th week of pregnancy using … to take a sample of the fluid surrounding the baby for testing. Assisted reproductive therapy is also an option for …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… body fluid and cells than non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene … to have a fetus tested for Tay-Sachs. Extensive carrier testing of Ashkenazi Jews has significantly reduced the … occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed around the …
Staff
Mr. Benjamin Berkman is the deputy director of NHGRI's Bioethics Core.
… BB, Hull SC, Berkman BE. Views of Pregnant Women on Prenatal Genome Sequencing . Obstetrics and Gynecology, … Speech in an Era of Radically Expanded Genetic Testing. Washington and Lee Law Review (in press). Prince AE …
Event
We invite scholars to submit ideas to be one of six to seven speakers at our symposium, “Irreducible Subjects: Disability and Genomics in the Past, Present, and Future”, with an additional opportunity to join a collected set of papers on the same theme.
… scholars have argued (sometimes strenuously) that prenatal selection against genetic “impairments” is overly … All of this must be balanced with clear evidence that prenatal screening, newborn genome sequencing, clinical … Medical- and bioethics Medical education Genetic testing or screening (clinical and popular), and the complex …
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.
… 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 microdeletion, encompassing the JARID2 gene. (Prenatal, Perinatal and Reproductive Genetics) 2274F. Irini …
Staff
Dr. Sara Chandros Hull is a co-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 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… are working. What are we not trying to do? We are not testing any new medication or procedure to treat or cure MMA. … determination in cultured fibroblasts and/or genetic testing. We are also interested in evaluating patients with … will determine patient eligibility when definitive testing has not been performed. There are some reasons that …
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 …
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. However this testing is not usually requested for ADPKD because it is …