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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.
… child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is three … body fluid and cells than non-carriers. DNA-based carrier testing looks for specific mutations or changes in the gene … occur in populations thought not to be at high risk. Prenatal testing for Tay-Sachs can be performed around the …
Event
On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics. 
… talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib treatment Speaker, Shaima Raji Abdul …
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.
… stand outside of that framework. Ableism gets enacted when non-disabled people design and build a world without … scholars have argued (sometimes strenuously) that prenatal selection against genetic “impairments” is overly … 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.
… 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 …
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 …
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. … treatment for ADPKD is aimed at treating the kidney and non-kidney symptoms. Blood pressure is followed regularly. …