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A New Way of Looking at Prader-Willi Syndrome
November 15, 2012 — An Australian study reveals that people with the rare genetic disorder known as Prader-Willi Syndrome may have an impaired autonomic nervous system. This discovery opens up a new way of looking at ... > full story -
Watching the Developing Brain, Scientists Glean Clues on Neurological Disorder
November 13, 2012 — Researchers have tracked a gene's crucial role in orchestrating the placement of neurons in the developing brain. Their findings help unravel some of the mysteries of Joubert syndrome and other ... > full story -
Extra Chromosome 21 Removed from Down Syndrome Cell Line
November 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 ... > full story -
Whole Genome Sequencing of De Novo Balanced Rearrangements in Prenatal Diagnosis
November 7, 2012 — Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, a relatively brief timeframe that should ... > full story -
Higher Anxiety Associated With Poorer Functioning in Children With 22q11.2 Deletion Syndrome
November 5, 2012 — Researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety -- but not intelligence -- is linked to poorer adaptive behaviors, such as ... > full story -
Metabolic Syndrome Makes a Difference in Hormone Therapy Risk, Analysis Suggests
October 30, 2012 — A new analysis of the Women's Health Initiative trials show that women who had metabolic syndrome before they started hormone therapy had a greatly increased risk of heart attack or dying of heart ... > full story -
In Vitro Fertilization Linked to Increase Risk for Birth Defects, Research Suggests
October 20, 2012 — In vitro fertilization may significantly increase the risk of birth defects, particularly those of the eye, heart, reproductive organs and urinary systems, according to new ... > full story -
Rare Genetic Disorder Points to Molecules That May Play Role in Schizophrenia
October 9, 2012 — Scientists studying a rare genetic disorder have identified a molecular pathway that may play a role in schizophrenia, according to new research. The findings may one day guide researchers to new ... > full story -
Drug Reverses Abnormal Brain Function in Rett Syndrome Mice
October 3, 2012 — A promising study shows that in a mouse model of Rett syndrome, researchers were able to reverse abnormalities in brain activity and improve neurological function by treating the animals with an ... > full story -
Gene That Causes a Form of Deafness Discovered
September 30, 2012 — Researchers have found a new genetic mutation responsible for deafness and hearing loss associated with Usher syndrome type ... > full story
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