Colleen O'Ryan | Genetic Autism Cape Town
|Research | Publications | Collaborations | Lab members | Resources|
Dr Colleen O'Ryan
email@example.com | Telephone +27 21 650 4257 | Facsimile +27 21 650 1861
I completed my PhD in Evolutionary and Population Genetics at the University of Cape Town (SA), followed by a postdoctoral fellowship at the Institute of Zoology, University College, London (UK). I have published in the fields of evolutionary, population and behavioural genetics using range of molecular approaches in combination with demography, behavioural and life history traits. I shifted my research focus in 2014 to examine the association of Autism Spectrum Disorder (ASD) with genetic loci using an epigenetic approach to identify differential genes associated with ASD.
ASD is an early onset developmental, highly heritable and variable disorder with an incidence of ~ one in 60 individuals. ASD is defined in the DSM-V (Diagnostic and Statistical Manual of Mental Disorders, 5th Edition) as having deficits in two core symptom domains: i) social communication and ii) fixated interests and repetitive behaviour or activities. ASD is a quantitative trait resulting from multiple interacting genes, as well as epigenetic and environmental influences. Epigenetic mechanisms, which allow articulation between genes and environmental cues to modulate gene expression, have implicated in the aetiology of ASD.
My research group has set up a unique cohort of deeply phenotyped, South African children with ASD and matched controls. Our research uses a multi-disciplinary approach which includes ASD phenotyping, DNA methylation, metabolomics and cell biology. We have identified an ASD endophenotype that exhibits mitochondrial dysfunction partly driven by DNA methylation which our group proposes contributes to the aetiology of ASD. This mitochondrial dysfunction was supported by urinary metabolomics and increased mitochondrial DNA copy number in the ASD cohort. We are currently examining the mitochondrial hypothesis of ASD in a neuronal cell model system. Our group uses molecular biology, biochemistry, NGS, microscopy and cell culture techniques.
|Selected publications 2016 - 2020|
S. Bam, C. Mahony, E. Buchanan, S. Stathopoulos and C. O’ Ryan. Increased Mitochondrial DNA copy number associated with by DNA methylation of mitochondrial biogenesis genes in Autism Spectrum Disorders. (in prep)
S. Stathopoulos, R. Gaujoux, Z. Linderque, C. Mahony, R. Van Der Colff, F. Van Der Westhuizen and C. O’Ryan. 2020. DNA methylation associated with mitochondrial dysfunction in a South African Autism Spectrum Disorder cohort. Autism Research. doi: https://doi.org/10.1101/310748.
N. le Roex and C. O’Ryan. 2020. Genetic connectivity of klipspringers in Africa. African Journal of Ecology (under revision).
E. H. Harley, M. de Waal, S Murray, and C. O’Ryan. 2016. Comparison of whole mitochondrial genome sequences of northern and southern white rhinoceroses (Ceratotherium simum): The conservation consequences of species definitions. Conservation Genetics. DOI 10.1007/s10592-016-0861-2.
N.M.S. Techow, C. O’Ryan, C.J.R Roberson and P.G. Ryan. 2016. The origins of white-chinned petrels killed bylong-line fisheries off South Africa and New Zealand. Polar Research 35, 21150.
N. Muna and C. O’Ryan. 2016. Isolation and characterisation of the first microsatellite markers for the southern harvester termite, Microhodotermes viator. Bulletin of Entomological Research 1:1-6.
S. Stathopoulos (Neuroscience Department, Mount Sinai, USA)
Past students / researchers
|Autism Western Cape: www.autismwesterncape.org.za
Autism Speaks: www.autsimspeaks.org