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Down Syndrome NSW
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Tuesday, 26 March 2013

Research news update #2 for 2013

Unraveling the molecular roots of Down syndrome
Heather Buschman, Beaker (Sanford-Burnham Science blog), 24th March 2013
What is it about the extra chromosome inherited in Down syndrome—chromosome 21—that alters brain and body development? Researchers have new evidence that points to a protein called sorting nexin 27, or SNX27. SNX27 production is inhibited by a molecule encoded on chromosome 21. 

Australian Down syndrome clinical study: Cognition and memory in people with Down syndrome

'A Phase 1b, Double-blind, Randomized, Placebo-Controlled, Parallel Group Study of the Safety, Tolerability, Preliminary Efficacy and Pharmacodynamics of BTD-001 in Young Adults and Adolescents with Down Syndrome'
Artist: Michael Jurogue Johnson
25th March 2013
Enrolling participants with Down syndrome aged 13 to 35 years old in Adelaide, Launceston, Melbourne, Perth, Sydney, and Wollongong. Sites in other locations are planned. Study site location information will be updated as it becomes available. Contacts in Victoria, South Australia and Western Australia are currently available on the study's website.
Monash University trial to test if cough mixture ingredient could help Down syndrome, Lucie Van Den Berg, 25th March 2013

Down Syndrome Cognition Research 101: An Introduction
Down Syndrome Research and Treatment Foundation - World Down Syndrome Day Webinar, 21st March 2013
Scientists used to think Down syndrome was too complex a condition to treat. But thanks to the enormous strides researchers have made in the past decade, we now believe that it's not only possible to improve cognition through drug treatment, but that "we should look with real hope on the near future," as one leader in the field says — that the goal of improved learning, memory, and speech for people with DS may be within reach.

Down Syndrome Education International, March 2013
A research study, recently published in the Journal of Child Language, has reported that children with Down syndrome can benefit from the use of written words alongside pictures to help teach spoken vocabulary.

Down syndrome groups participate in Roche Advisory Board
Down Syndrome Education International, 12th March 2013
Earlier this week, DSE joined Down syndrome groups from around the world to discuss recent advances in research and clinical trials of pharmaceutical therapies that may improve learning and memory for people with Down syndrome.

Researcher finds exercise may be intervention for Down syndrome,
Sarah Auffret, Medical Xpress, 6th March 2013
Shannon D.R. Ringenbach, an associate professor of kinesiology in the School of Nutrition and Health Promotion, hopes to show that Assisted Cycle Therapy has the potential to improve the lives of people with DS. She has received a $150,000 grant from the Eunice Shriver National Institute of Child Health and Human Development to conduct the study.

Roche Research Sheds Light on Improving Neurological Deficits in Mouse Model of Down Syndrome, PharmaLive, 27th February 2013
Roche scientists, along with scientists at the University of Cantabria and Spain’s Cajal Institute, report findings in the Journal of Neurosciencea, which demonstrate that by selectively blocking specific receptors in the brain they were able to reverse key neurological deficits in a mouse model of Down syndrome (the Ts65Dn mouse). 

Lithium Improves Cognition in Down Syndrome Animal Model: Is It Viable for Human Trials?
Tom Valeo, Neurology Today, Volume 13 - Issue 4 - p 6–7  21st February 2013
doi: 10.1097/01.NT.0000427571.74729.3e
Lithium seemed to improve memory and cognition in an animal model of Down syndrome. But several commentators noted that although the results are encouraging, safety concerns with lithium need to be addressed before applying to human trials of Down syndrome.

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