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

 

 
Wellcome Trust Centre for Human Genetics

NEUROGENETICS & PSYCHIATRIC DISORDERS: Neurodevelopmental and Neurological Disorders Group

Professor Anthony P. Monaco - Group Head

MONACO GROUP OVERVIEW     SITE MAP

1. News:

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]
 

29 April 2009. Autism New Paper! Oxford University media release: New ‘gene’ identified that may increase susceptibility to autism.
A new international study led by scientists from Oxford and Bologna Universities and published in the journal Molecular Psychiatry suggests that variations in a gene thought to be involved in the growth of nerve cells in the brain could be associated with susceptibility to autism:

Publication:
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]

Media coverage:
BBC. Genes 'have key role in autism'
The Guardian. Scientists find genetic clues to how autism can develop.
The Times.
Biggest autism study identifies gene variations behind condition
Daily Mail.
Have we found key to autism? Scientists hail 'monumental' breakthrough that could help millions.
Daily Express
. DNA Breakthrough in treatment for autism.
Daily Telegraph.
Gene mutations that may lead to autism identified by scientists.
The Herald.
First genetic clues to autism uncovered
Oxford Mail.
Scientists hail autism breakthrough

 

29 April 2009. New! Autism Genome Project (AGP) collaborators participate in new autism study, led by The Children's Hospital of Philadelphia (CHOP), published in Nature:

Original Publications:
Wang et al, “Common genetic variants on 5p14.1 associate with autism spectrum disorders,” Nature, published online 28 April 2009. [Abstract]
Glessner et al, “Autism genome-wide copy number variation reveals ubiquitin and neuronal genes,” Nature, published online 28 April 2009. [Abstract]

Media coverage:
USA. Autism Speaks.
Autism Genes Discovered; Help Shape Connections Among Brain Cells
USA. Time.
Autism Linked to Genes That Govern How the Brain Is Wired
USA. CHOP.
Autism Genes Discovered; Help Shape Connections Among Brain Cells
USA. Vanderbilt University.
Studies find new genetic risk zone for autism

3 April 2009. Dyslexia TES Article! Is dyslexia a middle-class badge for illiteracy? This article cites Prof Monaco.

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:

December 2007 MONACO GROUP NEWSLETTER: Newsletter from the Monaco Group: MONACO GROUP 2007 NEWSLETTER
December 2007 DYSLEXIA NEWSLETTER: Newsletter from the Monaco Dyslexia research team: DYSLEXIA 2007 NEWSLETTER

Wellcome Trust article: The FOXP2 story

 

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2. People

Professor Anthony Monaco

COMPLETE LIST of group members and contact details

 

3. Research

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. Publications

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:

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5. Funders

The Monaco Group is currently receiving grants from the following funders:

CLICK HERE

6. Research consortia

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).

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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

8. Contact

For general enquiries to the Monaco Group (Neurodevelopmental and Neurological Disorders Group): monacopa@well.ox.ac.uk

9. Vacancies

The Monaco Group has no vacancies at present.

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