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Friday, 2 May 2014

Research news and commentary #6 for 2014

Medical Express, 20th April 2014
Although doctors have long known that people with Down syndrome have a heightened risk of developing acute lymphoblastic leukemia (ALL) during childhood, they haven't been able to explain why. Now, a team of Dana-Farber Cancer Institute investigators has uncovered a connection between the two conditions. In a study posted online ... by the journal Nature Genetics, the researchers track the genetic chain of events that links a chromosomal abnormality in Down syndrome to the cellular havoc that occurs in ALL. Their findings are relevant not only to people with Down syndrome but also to many others who develop ALL ...
Autonomy and relationships among ‘good life’ goals
Rebecca Graham, Science Network Western Australia, 18th April 2014
... The ECU research team aimed to understand “what makes a ‘good life’” for young adults with Down syndrome, and what the facilitators and barriers were to a good life.

“We wanted to explore the factors associated with the ‘best’ outcomes for people with Down syndrome, so we can guide policy and interventions towards maximising the likelihood of these young people reaching their potential,” she says.

“However, we needed to define what that ‘best’ outcome was for people with Down syndrome, from their perspective.” ...

Trisomy 21: How an extra little chromosome throws the entire genome off balance
Science Codex, 17th April 2014 
... Despite much research, the exact mechanisms causing the various symptoms associated with Down syndrome remain a mystery. According to a hypothesis called «gene dosage disequilibrium», the presence of a third chromosome 21 could influence the expression of all the other genes in the genome ... This study opens the door to a new way of understanding the molecular mechanisms that explain the symptoms of Down syndrome. ...

Downs syndrome research offers new insights
7.30 South Australia (ABC TV), 11th April 2014
An Adelaide geneticist has recently published a paper which she says sheds new light on the processes that leave some women more prone than others to having a child with Down Syndrome
The work's been welcomed by families, who say it's useful for prospective parents but for those with Down Syndrome children, disinformation and pressure to make quick decisions remain all too commonplace.
(Video: 7m 31s)
Red Orbit, 8th April 2014
A multidisciplinary group of scientists from the Sanders-Brown Center on Aging at the University of Kentucky have identified an interesting connection between the health of the brain tissue that supports cognitive functioning and the presence of dementia in adults with Down syndrome.

Published in 
Neurobiology of Aging, the study, which focused on detecting changes in the white matter connections of the brain, offers tantalizing potential for the identification of biomarkers connected to the development of dementia, including Alzheimer’s disease ...

Physicians: too many doing Down syndrome prenatal testing wrongMark Leach, Down Syndrome Prenatal Testing, 14th April 2014
A study of parents of children with Down syndrome reports on their experiences with finding out the diagnosis. It finds that too many physicians still are doing it wrong ...

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