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MONACO GROUP
OVERVIEW
1. News
2. People
3. Research teams:
(A) Autism
(B) Developmental Dyslexia
(C) Specific Language Impairment (SLI)
(D) SYNAESTHESIA
(E) Chorea acanthocytosis (CHAC)
(F) Menkes
(G) HAndedness and
Schizophrenia
4.
Publications
5.
Funders
6.
Research consortia
7. Further information / Links
8. Contact us
9. Vacancies
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NEUROGENETICS & PSYCHIATRIC DISORDERS:
Neurodevelopmental and Neurological Disorders Group
Professor Anthony P. Monaco - Group Head
2009:
11 May 2009.
Dyslexia
New Paper!
The dyslexia-associated
protein KIAA0319 interacts with Adaptor Protein 2
and follows the classical clathrin-mediated
endocytosis pathway.
[Open Access pdf]
March 2009. Dyslexia
New Paper! A
Common Variant Associated with Dyslexia Reduces
Expression of the KIAA0319 Gene.
In Plos Genetics, March 2009,
[Link to full article (open access pdf)]
The molecular genetics of dyslexia.
Identification of the first functional genetic
variant that affects a dyslexia candidate gene.
See also: Article from the National Human
Genome Research Institute (NHGRI):
NHGRI
Research Helps to Demystify Dyslexia
Oxford
University press release
February 2009. Autism
New Paper!
Copy number variation and association
analysis of SHANK3 as a candidate gene for autism in
the IMGSAC collection. Accepted by European
Journal of Human Genetics.
Most recent news from 2008:
December 2008.
Autism
New Paper!
A 15q13.3 microdeletion segregating
with autism. European Journal of Human
Genetics (2008), 1 – 6. (advance online
publication, 3 December 2008; doi:10.1038/ejhg.200).
[Open Access pdf]
[PMID: 19050728]
November 2008.
Autism
New Paper!
MET and autism susceptibility: family
and case-control studies
European Journal of Human Genetics
(2008) Nov 12. [Epub ahead of print]
[Open Access pdf]
[PMID: 19002214]
6 November:
SLI:
Genetic study provides insight into language
development
A new study
published by the
Monaco Specific Language
Impairment (SLI) team finds that a gene
called
CNTNAP2 is associated with
Specific Language Impairment (SLI)
MORE HERE
See Editorial
in
New England Journal of Medicine: [Free
to download pdf]
The Genetics of Speech and Language Impairments
See also original article in
New England Journal of Medicine: [Free
to download pdf]
A functional genetic link between distinct
developmental language disorder
[Abstract only]
A functional genetic link between distinct
developmental language disorder See also:
Oxford University press release
Wellcome Trust press article Media
coverage: Times article (06.11.08):
Scientists pinpoint gene behind language
disorder
Financial Times
article (07.11.08)
Breakthrough on language disorder
1st
October: DYSLEXIA:
New piece in reading ability 'jigsaw'
A new study
published by the
Monaco Dyslexia team finds that a gene
thought to be associated with dyslexia (KIAA0319)
is also connected with reading ability in
the general population.
See original article
in
The American Journal of Psychiatry:
[Free to download pdf]
Association of the KIAA0319 Dyslexia
Susceptibility Gene With Reading Skills in the
General Population [Abstract only]
Association of the KIAA0319 Dyslexia
Susceptibility Gene With Reading Skills in the
General Population See also:
Oxford University press release
Avon
Longitudinal Study of Parents and Children (ALSPAC)
Media coverage (01.10.08):
BBC online: "Gene link to poor reading skills"
Daily Mirror:
"'Dyslexia gene hits reading'"
Daily Mail:"Dyslexia gene discovery could
improve treatment for millions"
Reuters UK: "Genetic change may explain reading
difficulty"
Evening Standard: "Dyslexia gene
discovery brings hope to sufferers"
Oxford Mail: "Genes link to reading
skills" Media coverage (03.10.08):
Science New:"Genetic Link to dyslexia"
See also:
All publications in 2008
Other GROUP news from 2008
All publications in 2007
Other GROUP news from 2007
Newsletters:
Wellcome Trust article: The FOXP2 story

Professor Anthony Monaco
COMPLETE LIST of group
members and contact details

3.1 Neurogenetics research at the
Centre
Neurogenetics is one of the main
research areas at the Wellcome Trust Centre for Human Genetics (WTCHG).
There are currently six
Research Groups working in this area.
Link to
Centre organigram
3.2 The Monaco Research
Group
|
The Monaco Research Group aims to
identify and characterise genes involved in human
neurodevelopmental
and neurological disorders.
The study of the genetic basis of
these disorders is the first step towards understanding the
mechanism of disease and normal brain function as well as
providing better strategies for therapy.
The Group works in two main areas:
(1) The genetics of
neurodevelopmental
disorders: the Group is currently engaged in research on
the genetics of the following
single-gene
(monogenic) neurological
diseases: Chorea Acanthocytosis (CHAC) and Menkes disease.
(2) The
positional cloning and functional characterization of
monogenic neurological diseases: the Group
is also engaged in research on the genetics of the
following neurodevelopmental
disorders: autism, Specific Language Impairment (SLI)
and developmental dyslexia. These are all
complex genetic disorders. Over the past
15 years or so, there has been remarkable success
tracking down genes for single-gene disorders, such as
cystic fibrosis, Duchenne muscular dystrophy and
Huntington’s disease. But such approaches are not
usually powerful enough for complex genetic disorders.
Recently, however,
novel strategies
have been developed that are more appropriate for
finding genes influencing complex disorders.
The
Group currently comprises the following research teams
-
please click on the links for
further information on the research being carried out by each
research team:
|
Research Teams |
Researchers |
|
Neurodevelopmental
disorders |
Autism |
Mr Richard Holt, Dr
Alistair Pagnamenta, Ms Inês
Sousa, Ms Nuala Sykes, Ms Kirsty Wing |
|
Developmental
Dyslexia |
Ms Megan Dennis, Dr
Clotilde Lévecque, Dr Silvia Paracchini, Mr
Tom Scerri, Dr Antonio Velayos-Baeza |
|
Specific Language
Impairment (SLI) |
Ms Laura Addis, Dr
Dianne Newbury |
|
Synaesthesia |
Mr Julian Asher |
|
Neurological
diseases |
CHAC |
Dr Antonio Velayos-Baeza, Dr Clotilde Lévecque |
|
Menkes |
Dr Zoe Holloway |
|
Handedness & Schizophrenia |
Dr Clyde Franks |
In the past, the Neurodevelopmental
and Neurological Disorders Group has
also carried out research into the following disorders:
Attention-Deficit/
Hyperactivity Disorder (ADHD) /
Speech and Language Disorder (SPCH1)
/
Movement disorders and ataxias
/ Wilson
disease
/
McLeod Neuroacanthocytosis Syndrome (MLS)

4.1 Most recent publications (2009):
May
2009 |
Dyslexia
|
New Paper!
The dyslexia-associated protein KIAA0319 interacts with
Adaptor Protein 2 and follows the classical clathrin-mediated
endocytosis pathway.
Levecque C, Velayos-Baeza A, Holloway ZG, Monaco AP.
In Am J Physiol Cell Physiol. 2009 May 6. [Epub ahead of
print]
[PMID: 19419997]
[Open Access pdf] |
April
2009 |
Autism |
New Paper!
High-density SNP association study and
copy number variation analysis of the AUTS1 and
AUTS5 loci implicates the IMMP2L-DOCK4 gene region
in autism susceptibility.
In Molecular Psychiatry,
advance online publication, Apr. 28.
[Open Access pdf] |
March
2009 |
Dyslexia
|
A Common Variant Associated with Dyslexia
Reduces Expression of the KIAA0319 Gene
In PLOS Genetics March 2009 vol 5(3).
[Link to full article (open access pdf)] |
February
2009 |
Autism |
Mapping of
partially overlapping de novo deletions across an autism
susceptibility region (AUTS5) in two unrelated individuals
affected by developmental delays with communication impairment.
Accepted by American Journal of Medical Genetics
|
February
2009 |
Autism |
Copy number
variation and association analysis of SHANK3 as a candidate gene
for autism in the IMGSAC collection
Nuala H. Sykes, Claudio Toma, Natalie Wilson, Emanuela
V. Volpi, Inês Sousa, Alistair T. Pagnamenta, Raffaella Tancredi,
Agatino Battaglia, Elena Maestrini, Anthony J. Bailey, Anthony
P. Monaco, IMGSAC
Accepted by European
Journal of Human Genetics |
February
2009 |
Autism |
New Paper!
High-density SNP
association study and copy number variation analysis of the
AUTS1 and AUTS5 loci implicates the IMMP2L-DOCK4 gene region in
autism susceptibility.
Maestrini E1, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH,
Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS,
Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O,
Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ,
Morris AP, Bailey AJ, Monaco AP, IMGSAC
Accepted by Molecular Psychiatry |
December
2008 |
Autism |
New Paper!
A 15q13.3
microdeletion segregating with autism
Alistair T Pagnamenta, Kirsty Wing, Elham Sadighi Akha,
Samantha JL Knight, Sven Bo¨lte, Gabriele Schmo¨tzer, Eftichia
Duketis, Fritz Poustka, Sabine M Klauck, Annemarie Poustka,
Jiannis Ragoussis, Anthony J Bailey, Anthony P Monaco and IMGSAC
European Journal of Human Genetics (2008), 1 – 6.
(advance online publication, 3 December 2008;
doi:10.1038/ejhg.200)
[Open Access pdf]
[PMID: 19050728] |
November
2008 |
Autism |
New Paper!
MET and autism susceptibility: family and
case-control studies
Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes
NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP.
European Journal of
Human Genetics (2008) Nov 12. [Epub ahead of print]
[Open Access pdf]
[PMID: 19002214] |
All publications in 2008
All publications in 2007
4.2 List of all publications
COMPLETE LIST
List of publications for each
Research Team:

The Monaco Group is currently
receiving grants from the following funders:
CLICK HERE
The Monaco Research Group is a
member of the following research consortia and international
projects:
-
Autism Genome Project (AGP):
a large-scale, collaborative international genetics research
project that aims to identify autism susceptibility genes.
-
Autism MOLGEN Project: an
EU-funded autism research project that aims to identify
susceptibility alleles for autism and to characterise their
biological role.
-
Neurodys Project:
an EU-funded dyslexia research project
that aims to identify candidate genes and the
neurobiological basis of dyslexia.
-
The International Molecular Genetic
Study of Autism Consortium (IMGSAC):
a large-scale,
collaborative international genetics research project
that aims to
generate an extensive collection of families with
autism and to
identify autism susceptibility
genes.
-
The SLI Consortium (SLIC): a group of
scientists in the UK who are working together to unravel the role
that genetics plays in the development of Specific Language
Impairment (SLI).

7.
Further information
/ Links
7.1 Further information on genetics:
For non-scientists:
Understanding
genetic disorders
Techniques for researching
genetic disorders
Links:
Glossaries and websites on understanding genetics
For scientists:
GENE SEARCH: references to specific genes and QTLs on the
Monaco Group website
Comprehensive
overview on the genetics of autism
7.2 Links on this
site:
7.3 Other links
For general enquiries to the Monaco
Group (Neurodevelopmental and Neurological Disorders Group):
monacopa@well.ox.ac.uk
The Monaco Group has no vacancies at
present.

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28 November 2007:
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