EASTBIO: Investigating how the 16p11.2 microdeletion causes Autism. at University of Edinburgh on FindAPhD.com

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Dr Thomas Pratt, Prof John Mason No more applications being accepted Competition Funded PhD Project (European/UK Students Only)

Edinburgh United Kingdom

About the Project

Deanery of Biomedical Sciences
Autism affects ~1% of the population and can have a major impact on the lives of patients and their friends and families. Altered sensory perception is a hallmark of Autism and the relay of information from sense organs through the thalamus and onto the cerebral cortex via the thalamocortical axon tract is a key step in processing sensory input. Recent research has implicated developmental defects in the thalamus and its connections to the cerebral cortex in Autism patients (Green et al 2017).

Copy number variation (CNV) of the 16p11.2 locus on chromosome 16 is one of the most common single genetic causes of Autism [1-4] accunting for ~1% of cases and giving strong motivation for understanding the underlying mechanism. The 16p11.2 CNV is associated with infant brain overgrowth (macrocephaly in microdeletion patients) or undergrowth (microcephaly in microduplication patients), suggesting mechanisms acting during pre-natal brain development (Packer et al., 2016). The 16p11.2 locus includes 29 genes many of which are strongly expressed in the developing human brain (Morson et al., 2019) supporting the hypothesis that brain development is disrupted in 16p11.2 patients and that this underpins the subsequent development of ASD symptoms. This provides strong motivation for investigating neurodevelopmental defects caused by the 16p11.2 CNV.

This project will initially investigate the impact of the 16p11.2 microdeletion on the development of the thalamus and its connections to the cerebral cortex in a rat 16p11.2 microdeletion model. Other approaches to tackle this question may be employed as the project develops.

This project will provide training in molecular biology, histology, comparative anatomy, ex vivo tissue culture, imaging, and data analysis.

References.

Green SA, Hernandez L, Bookheimer SY, Dapretto M. (2017). Reduced modulation of thalamocortical connectivity during exposure to sensory stimuli in ASD. Autism Research 10. 801-809.

Morson S, Yang Y, Price DJ, Pratt T (2019) Expression of genes in the 16p11.2 locus during human fetal cortical neurogenesis. bioRxiv 633461; doi: https://doi.org/10.1101/63346

Packer A. (2016) Neocortical neurogenesis and the etiology of autism spectrum disorder. Neurosci Biobehav 64:185-95.

Funding Notes

This 4 year PhD project is part of a competition funded by EASTBIO BBSRC Doctoral Training Partnership. This opportunity is only open to UK nationals (or EU students who have been resident in the UK for 3+ years immediately prior to the programme start date) due to restrictions imposed by the funding body. EU applicants without a history of residency in the UK are eligible to apply, but would only be awarded the fees (not the stipend). All candidates should have or expect to have a minimum of an upper 2nd class degree in an appropriate discipline.

References

Download application and reference forms via: http://www.eastscotbiodtp.ac.uk/how-apply-0
Completed application form along with your supporting documents should be sent to our PGR student team at sbms-postgraduate@ed.ac.uk by 5th January 2020.

References: Please send the reference request form to two referees. Completed references for this project should also be returned to sbms-postgraduate@ed.ac.uk by the closing date: 5th January 2020.

It is your responsibility to ensure that references are provided by the specified deadline.

Where will I study?

University of Edinburgh

One of the world''s top universities, consistently ranked in the world top 50 and placed 20th in the QS World University Rankings 2020. We provide a stimulating working, learning and teaching environment with access to excellent facilities and attract the world''s best, from Nobel Prize winning laureates to future explorers, pioneers and inventors.

EASTBIO: Investigating how the 16p11.2 microdeletion causes Autism.

University of Edinburgh College of Medicine and Veterinary Medicine