Down Syndrome News
September 4, 2016
Latest Headlines
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More Down Syndrome News
September 4, 2016

New Function of the Chromosomal Terminus, Vital for Human Health, Discovered

Mar. 28, 2016 — A research group discovered a new function of the chromosomal terminus, which may lead to the clarification of the mechanism for developing abnormal telomere structure such as multiple malformation ... read more

Mutation in APC2 Gene Causes Sotos Features

Mar. 5, 2015 — Sotos syndrome is a congenital syndrome that is characterized by varying degrees of mental retardation and a large head circumference etc. It is known that 90 percent of Sotos syndrome patients have ... read more

Down Syndrome: Behind the Scenes of Genetics, Leukemia

Aug. 8, 2014 — A group of geneticists have focused for many years on the genetic characteristics of Down syndrome. They have sequenced the exome, a specific part of our genome, in a cohort of patients affected both ... read more

Effective Drugs for Parkinson's Reduce Symptoms of Rett Syndrome in Mice

June 16, 2014 — A combination of effective drugs for Parkinson's disease in mice that are used as a model of human Rett syndrome reduces some of the symptoms associated with this disease. Rett syndrome is the ... read more

Progressive Neurodegenerative Disorder Linked to R-Loop Formation

Apr. 17, 2014 — A new feature of the genetic mutation responsible for the progressive neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome -- the formation of 'R-loops,' has been ... read more

Noninvasive Prenatal Testing Detects More Than 80 Percent of Chromosomal Abnormalities

Feb. 3, 2014 — Noninvasive prenatal testing detected 83.2 percent of chromosomal abnormalities normally picked up by invasive diagnostic testing strategies, such as chorionic villus sampling or ... read more

Molecular Glue Controls Chromosome Segregation in Oocytes

Nov. 27, 2013 — Most trisomic pregnancies arise as a consequence of chromosome missegregation in egg precursor cells called oocytes. Austrian researchers aim to understand the molecular causes of female ... read more

Gene-Silencing Strategy Opens New Path to Understanding Down Syndrome

Oct. 22, 2013 — Inspired by natural process that silences one copy of female mammals' two sex-determining X chromosomes during embryonic development, researchers develop way to silence extra chromosome of ... read more

Recent Highlights in Molecular Biology and Evolution

Sep. 25, 2013 — Research has found a greater number of "escaping genes" on the X chromosome than have been previously detected, with implications for the understanding of mental impairment in ... read more

Targeting an Aspect of Down Syndrome

June 5, 2013 — Researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential ... read more

Down Syndrome Neurons Grown from Stem Cells Show Signature Problems

May 27, 2013 — Brain cells have been grown from skin cells of individuals with Down ... read more

'Dark Genome' Is Involved in Rett Syndrome

May 2, 2013 — Researchers have described alterations in noncoding long chain RNA sequences in Rett ... read more

Cholesterol Increases Risk of Alzheimer's and Heart Disease

Apr. 15, 2013 — Using insights gained from studying two much rarer disorders, Down Syndrome and Niemann Pick-C disease, researchers found that cholesterol wreaks havoc on the orderly process of cell division, ... read more

New Therapy for Fragile X Chromosome Syndrome Discovered

Apr. 10, 2013 — Researchers have discovered a new therapy for the fragile X chromosome syndrome. This new therapy proposes the modulation of the cerebral endocannabinoid system in order to ameliorate the symptoms of ... read more

Fragile X Makes Brain Cells Talk Too Much

Feb. 20, 2013 — The most common inherited form of mental retardation and autism, fragile X syndrome, turns some brain cells into chatterboxes, scientists report. The extra talk may make it harder for brain cells to ... read more

Genetic Defect Causing Fragile X-Related Disorders More Common Than Thought

Dec. 20, 2012 — A single genetic defect on the X chromosome that can result in a wide array of conditions -- from learning and emotional difficulties to primary ovarian insufficiency in women and tremors in ... read more

Extra Chromosome 21 Removed from Down Syndrome Cell Line

Nov. 9, 2012 — Scientists succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome. Persons with this condition have three copies of this chromosome. The ... read more

Boosting Natural Marijuana-Like Brain Chemicals Treats Fragile X Syndrome Symptoms

Sep. 25, 2012 — Scientists have found that increasing natural marijuana-like chemicals in the brain can help correct behavioral issues related to fragile X syndrome, the most common known genetic cause of ... read more

Scientists Design Molecule That Reverses Some Fragile X Syndrome Defects

Sep. 4, 2012 — Scientists have designed a compound that shows promise as a potential therapy for one of the diseases closely linked to fragile X syndrome, a genetic condition that causes mental retardation, ... read more

Fragile X and Down Syndromes Share Signalling Pathway for Intellectual Disability

Aug. 3, 2012 — Intellectual disability due to Fragile X and Down syndromes involves similar molecular pathways, researchers report. The two disorders share disturbances in the molecular events that regulate the way ... read more
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