Tuesday, 1 December 2015

Research news and commentary #9 for 2015


National down syndrome patient database: Insights from the development of a multi-center registry study
Jenifer Lavigne and Christianne Sharr et al, American Journal of Medical Genetics, 6th August 2015
... Our group sought to address the need for a patient database, with a goal of having healthcare professionals collect consistent and comprehensive data on their patients with DS. We have completed our first year of collaboration, and here we share our methodology, lessons learned, and shared goals for the future ...

Jessica Fenn, The Atlantic, 11th November 2015
Research has shown that a father’s age can affect the risk of genetic abnormalities in a fetus, but current testing methods still don’t take it into account.

... Here’s what the algorithm doesn’t account for: Extra genetic material can also attach itself to chromosome 21 in the sperm. Scientists agree that Down syndrome can be attributed to the father in 5 to 10 percent of cases, and some believe that number may be as high as 20 percent ...


Discriminatory acts towards young Australian adults with disabilities in public places
Centre for Disability Research and Policy, University of Sydney, 2015
The Centre for Disability Research and Policy at the University of Sydney, in partnership with the University of Melbourne, has commenced a three-year ARC Linkage project (2015-2017) exploring discriminatory acts towards young Australian’s with a disability in public places.

... The 12.6% of young Australians (aged 15-29) who have disabilities face pervasive disadvantages and inequity in many areas of life ... (T)he impact of interpersonal discriminatory acts towards people with disabilities in public places is less well understood ... In order to underpin effective social policies and to create safe and inclusive public places and improve the social and economic participation for young Australians living with a disability, the research team will address the following research questions:

  • What is the nature and extent of interpersonal discrimination experienced by young disabled Australians when they are out and about in public?
  • What contextual factors influence this discrimination occurring?
  • In what ways do young disabled people change their lives in response to interpersonal discrimination in public places?
  • Why are some young people more resilient and others more vulnerable to the negative outcomes associated with interpersonal discrimination in public?
Further information

St. Joseph's Hospital steals top Alzheimer's scientist from Banner
Bizjournals.com, 22nd November 2015
Dr. Marwan Sabbagh has become director of the Alzheimer’s and Memory Disorders Division at Barrow Neurological Institute in Phoenix — and has taken a new research grant with him ... When scientists are recruited, it’s common for them to take the research they were conducting at their former institution to the new one. That’s just what’s happening with a new study that will use a one-drop blood test to study Alzheimer’s in people with Down syndrome.... Now that people with Down syndrome are living into their 60s and 70s, most will develop the Alzheimer’s type of dementia, Sabbagh said.

UCI part of US effort to find Alzheimer’s biomarkers in people with Down syndrome
University of California (Irvine), 30th November 2015
A University of California, Irvine research team is part of a $37 million national effort to identify biomarkers that will predict the onset of Alzheimer’s disease in people with Down syndrome.

UCI pediatric neurologist Dr. Ira Lott and colleagues will receive $4.7 million of that funding from the National Institute on Aging to support his continuing work to uncover the mystery of progressive cognitive impairment seen in some people over 40 with Down syndrome. Lott is a pioneer and a leader in neurological research on Down syndrome.

“Along with identifying the pre-existing factors for Alzheimer’s disease, the ultimate goal of the research is to identify the susceptibility to dementia in time for treatment interventions to prevent dementia in Down syndrome,” he said. “Once dementia has begun, virtually all studies, including our own, indicate that it’s too late. We wish to afford people with Down syndrome the same opportunities for intervention as those in the general population.” ...

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