ACADEMIC
NEWSLETTER
AUGUST 2014
In this newsletter:

Alzheimer’s disease in Down
syndrome conference

Recruitment update

LonDownS’ news

CSO training

LonDownS contact details
Professor John Hardy, Head of Molecular
Neuroscience at UCL Institute of Neurology and the
lead investigator on the genetics stream of the
LonDownS study has been awarded the Dan David
Prize for his work on APP, the amyloid gene encoding
the amyloid precursor protein. As most of you are
aware, the APP gene is triplicated in DS. John was the
first to discover the link between APP, AD and DS
(Hardy & Allsop, 1991).
This is a prestigious,
international recognition that
awards US$1 million for
achievements having an
outstanding scientific,
technological, cultural or social
impact on society.
Congratulations, John!
Alzheimer’s Disease in Down Syndrome:
from Molecules to Cognition.
Wellcome Trust Scientific Conferences, Hinxton, UK
A fulfilling and exciting time was had by all at our
recent conference ‘Alzheimer’s Disease in Down
Syndrome: from Molecules to Cognition’. The crux of
this meeting was for communication, making new
contacts and making new, international collaborations
at the highest level between researchers in the field.
Down syndrome research is gathering increasing
importance and pace as genetic analysis technologies
advance and our understanding of dementia
progresses.
The special case of dementia in Down syndrome is thus
beginning to receive more attention in the research
community with consortia such as The London Down
Syndrome Consortium existing solely to investigate this
LONDOWNS RECRUITMENT UPDATE
We are delighted with the way recruitment of adults for the cognitive assessments is going. Together, we
have seen about 120 participants so far which is a substantial amount of our 350 adults target.
Our sites are doing a great job of recruitment. We have 15 open sites across England at the moment with
several more in the pipeline that are due to open soon. Our top recruiter so far is North East London NHS
Foundation Trust so congratulations to Dr Bini Thomas, Angeliki Kassari and Sheetal Dangey and a big thank
you to Fiona Horton for excellent R&D management in the Trust.
Thank you to all our sites for your continued hard work and interest in the study.
Next CSO and Research
Nurse training dates
SUBSTANTIAL AMENDMENT
We have received approval for a substantial amendment to our
project to our REC. We are amending the protocol and several of
the information sheets. This amendment should be cascaded
down to you via CSP shortly
We have decided to remove the skin biopsy from our general
information and consent forms and instead now have separate
forms for this. We haven’t yet done any biopsies and think it is
unlikely we will do any.
Thursday 18th September
2014. Charles Bell House,
UCL. All day
Thursday 30th October 2014.
Charles Bell House, UCL. All
day
If you or any new members
of your team need to book
training, please e-mail
Tommy (t.coyle@ucl.ac.uk)
We have also added some information to the protocol about why
we would now like blood and saliva samples. We will be looking
for biomarkers in the participants’ blood and using this
Welcome to two new team members. Rosalyn Hithersay has joined us as a Research Assistant and PhD student and
will be doing assessments with our participants. Andrew Balgobin has joined us to help with the growing amount of
administration associated with the project. Welcome to both of you! Contact details for Ros and Andrew are below.
LonDownS Staff at UCL
Principal Investigator: Andre Strydom
a.strydom@ucl.ac.uk
We have a new look, easy-read website:
www.ucl.ac.uk/london-down-syndrome-consortium
Study Co-ordinator: Tamara al Janabi
t.al-janabi@ucl.ac.uk
Research Associate: Carla Startin
Carla.startin.09@ucl.ac.uk
Research Assistants:
Sarah Hamburg: s.hamburg@ucl.ac.uk
Ros Hithersay: r.hithersay@ucl.ac.uk
Administration:
Tommy Coyle: t.coyle@ucl.ac.uk
Andrew Balgobin: a.balgobin@ucl.ac.uk
Tel: 0207 679 9314
Richard Dawkins in the news
As many of you may have heard, Richard
Dawkins has been Tweeting again; this time
about Down syndrome. Many of the ‘facts’
he cited were incorrect. For a scientificallyaccurate summary of the facts, see this
article in the NY Times, written by our
collaborator, Jamie Edgin: http://
www.nytimes.com/2014/08/29/opinion/the
What happens to the hair samples we send to Queen Mary, University of London?
DOWN SYNDROME RESEARCH BULLETIN
Cognitive functioning in relation to brain amyloid-β in healthy adults with Down syndrome. Hartley et al; Brain. 2014 Jul 2. [Epub
ahead of print]. This study used PET scans to look at how much amyloid people with Down syndrome in their brains. Amyloid plaques
are related to Alzheimer's disease in the general population, and are found in everyone with Down syndrome after age 35 (this is one of
the reasons that Alzheimer's is thought to be so common in people with Down syndrome). The study found that as people with Down
syndrome got older they had more amyloid, but the amount of amyloid people had was not related to their cognitive abilities. This
suggests that people with Down syndrome show some protection against the presence of amyloid in their brains.
Role of astroglia in Down's syndrome revealed by patient-derived human-induced pluripotent stem cells. Chen et al; Nat
Commun. 2014 Jul 18;5:4430. doi: 10.1038/ncomms5430.This paper showed that the astrocytes grown from people with Down
syndrome's cells may impair neuronal development and result in neuronal death. This effect may be reversed using the antibiotic
minocycline. This paper suggests the importance of astrocytes in the brains of people with Down syndrome, and suggests that
minocycline may offer benefits for this population.
Domains of genome-wide gene expression dysregulation in Down’s syndrome Letourneau et al; NATURE 508, 345–350 (17 April
2014) doi:10.1038/nature13200. This study compared the gene expression from foetal monozygotic twins, one of whom had Down
syndrome while the other did not. Many genes showed a difference in expression, including some not found on chromosome 21. This
suggests that the presence of an extra copy of chromosome 21 in people with Down syndrome can interact with gene expression of
genes not found on chromosome 21, suggesting that it is not just the expression of chromosome 21 genes that is affected in Down
syndrome.
Translating dosage compensation to trisomy 21, Jiang et al, 2013 (Nature). In this study the authors inactivated one copy of
chromosome 21 in the cells of people with Down syndrome, resulting in the cells having two copies of chromosome 21 which expressed
genes compared to the three copies found in people with Down syndrome. Inactivating one copy of chromosome 21 may be one of the
first steps towards gene therapy in people with Down syndrome.
NIH Down Syndrome Consortium launched in 2011: http://downsyndrome.nih.gov/
Can Down Syndrome Be Treated? Underwood, Science 28 February 2014: Vol. 343 no. 6174 pp. 964-967 . This article discusses possible
treatments which may help people with Down syndrome.