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15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… genetic testing, such as for a condition like Down syndrome, had to undergo invasive procedures to get a fetal … an abnormal number of chromosomes, such as a trisomy. Down syndrome is a trisomy of chromosome 21, and NIPT for detecting Down syndrome and other chromosomal abnormalities is being widely …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… receptor that cause a dominantly-inherited periodic fever syndrome now known as TRAPS (the TNF receptor-associated periodic syndrome). The manuscript reporting this discovery also … in NLRP3 in a patient with adult-onset Muckle-Wells syndrome (MWS), raising the possibility that other patients …
News Release
NIH programs are establishing which genes and genomic variants play a role in human disease, enabling use in medicine and research.
… is a group of rare genetic conditions that include Noonan syndrome, Cardio-Facio-Cutaneous syndrome, Costello syndrome and Legius syndrome. Eight of 16 genes for epilepsy …
Fact Sheets
Chromosome abnormalities can either be numerical or structural and usually occur when there is an error in cell division.
… of a condition caused by numerical abnormalities is Down syndrome, which is marked by mental disability, learning … tone (hypotonia) in infancy. An individual with Down syndrome has three copies of chromosome 21 rather than two; … in which an individual lacks a chromosome, is Turner syndrome. In Turner syndrome, a female is born with only one …
Staff
Dr. Sagar is a staff clinician in the Neurobehavioral Clinical Research Section in Dr. Philip Shaw’s lab at the National Human Genome Research Institute.
… deletion) in a patient with autism, OCD, and overgrowth syndrome . Am J Med Genet A . 2107 Jun; 173(6):1656-1662. …
Fact Sheets
Chromosomes are thread-like structures located inside the nucleus of animal and plant cells.
… fail to develop properly. For example, people with Down syndrome have three copies of chromosome 21, instead of the … Males with more than one X chromosome have Klinefelter syndrome, which is a condition characterized by tall stature and, often, impaired fertility. Another syndrome caused by imbalance in the number of sex chromosomes …
Staff
Dr. Adebowale Adeyemo is an associate investigator and deputy director of NHGRI's Center for Research on Genomics and Global Health.
… loci ( HLADQA1 and PLCG2 ) for steroid-sensitive nephrotic syndrome (PMID 25349203) were reported in his collaborative … have been reported for the common form of the nephrotic syndrome, which is the second leading cause of kidney disease … (FSGS) - PMID 24676636; showing that subjects with Alport syndrome with the characteristic mutations in COL4A3/COL4A4 …
News Release
Ten investigators will receive exome sequencing data as part of their clinical research projects at the NIH Clinical Center.
… characterize the rate of mutations that lead to Sjögren's syndrome. Sjögren's syndrome is a chronic autoimmune disease in which the body's …