Down Syndrome News
August 4, 2015

Latest Headlines
updated 10:24pm EDT

More Down Syndrome News
August 4, 2015

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

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

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

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

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

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

Evolution's Gift May Also Be at the Root of a Form of Autism

May 10, 2012 — A recently evolved pattern of gene activity in the language and decision-making centers of the human brain is missing in a disorder associated with autism and learning disabilities, a new study ... read more

Understanding and Treating the Cognitive Dysfunction of Down Syndrome and Alzheimer's Disease

Mar. 1, 2012 — Down syndrome (DS) is the most common genetic disorder in live born children arising as a consequence of a chromosomal abnormality. It occurs as a result of having three copies of chromosome 21, ... read more

DNA Test That Identifies Down Syndrome in Pregnancy Can Also Detect Trisomy 18 and Trisomy 13

Feb. 2, 2012 — A recent study shows that a new DNA test that identifies Down syndrome in pregnancy can also detect trisomies 18 and ... read more

New DNA Test to Identify Down Syndrome in Pregnancy Is Ready for Clinical Use

Oct. 17, 2011 — A new DNA-based prenatal blood test that can strikingly reduce the number of risky diagnostic procedures needed to identify a pregnancy with Down syndrome is ready to be introduced into clinical ... read more

High Risks Associated With Egg Donation to Women With Turner’s Syndrome, Research Reveals

May 3, 2011 — Pregnancy via egg donation for women with Turner’s syndrome is potentially risky, both for the mother and the child, according to a multi-center ... read more

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