Monaco group

Research Overview

Historically the Monaco Research Group has focused on identifying and characterising 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 has worked in two main areas:

(1) The genetics of neurodevelopmental disorders: the Group has worked on the genetics of 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.

(2) The positional cloning and functional characterization of monogenic neurological diseases such as genetics of the following single-gene (monogenic) neurological diseases: Chorea Acanthocytosis (CHAC) and Menkes disease.

Key Publications

CNVs leading to fusion transcripts in individuals with autism spectrum disorder. (2012). Holt R, Sykes NH, Conceição IC, Cazier JB, Anney RJ, Oliveira G, Gallagher L, Vicente A, Monaco AP, Pagnamenta AT. Nov 20. PMID: 22549408
PCSK6 is associated with handedness in individuals with dyslexia. (2010) Scerri TS, Brandler WM, Paracchini S, Morris AP, Ring SM, Talcott JB, Stein J, Monaco AP. Hum Mol Genet. Nov 9. PMID: 21051773 [Epub ahead of print]
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. (2011) Pagnamenta A.T., Khan H., Walker S., et al. Journal of Medical Genetics, J Med Genet 48: 48-54 (Editor’s Choice). [Link to full article (open access pdf)]]
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (2009) E Maestrini, et al. Molecular Psychiatry, advanced online. [Link to full article (open access pdf)]]
A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene. (2009) Megan Y. Dennis, Silvia Paracchini, Thomas S. Scerri, Ludmila Prokunina-Olsson, Julian C. Knight, Richard Wade-Martins, Penny Coggill, Stephan Beck, Eric D. Green, Anthony P. Monaco. PLOS Genetics vol 5(3). [Link to full article (open access pdf)]
CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment. (2009) Dianne F. Newbury et al. The American Journal of Human Genetics. doi:10.1016/j.ajhg.2009.07.004 [Link to full article]
The Dyslexia-Associated Gene KIAA0319 encodes highly N- and O-Glycosylated plasma mebrane and secreted isoform (2007) Antonio Velayos-Baeza, Claudio Toma, Silvia Paracchini, Anthony P. Monaco. Human Molecular Genetics 17(6):859-71 [Full article] [PubMed record]
Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007). Autism Genome Project Consortium. Nature Genetics. 39: 319 - 328. [PubMed record] [Abstract]
Activation of ADP-ribosylation factor (Arf) regulates biogenesis of the ATP7A containing trans-Golgi network compartment and its Cu-induced trafficking (2007). Holloway, Zoe G., Robert Grabski, Tomasz Szul, Melanie L. Styers, Julie A. Coventry, Anthony P. Monaco and Elizabeth Sztul. Am J Physiol Cell Physiol. 293(6):C1753-67. [PubMed record] [PDF]

Funding Sources

Wellcome Trust, Advocacy of Neuroacanthocytosis Patients.

Research Area(s)

Neurogenetics

Keywords

autism, dyslexia, specific language impairment (SLI), ChAc, Menkes disease, Neurogenetics, developmental disorders