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Mechanistic analysis of neurodevelopmental disorders caused by mutations in the gene RAC1

Faculty of Biology, Medicine and Health

About the Project

RAC1 is a signalling protein that regulates many cellular processes and is essential during embryonic development. We recently discovered a novel genetic disease called RAC1-related neurodevelopmental disorder (RRND) that results from mutations in the RAC1 gene. Individuals with this condition have a variety of neurological abnormalities, but the nature of abnormalities differ between individuals with different mutations. This project will explore the molecular and cellular mechanisms by which the RAC1 mutations identified in patients give rise to neurological abnormalities and why different mutations in the RAC1 gene result in different abnormalities. This will be done using a combination of cell culture and model organism approaches. Cell culture will be used to explore how different RAC1 mutations affect cell morphology and behaviour. The fruit fly Drosophila will be used as a simple animal model to investigate how RAC1 mutations affect neuronal development and function. In addition, computational bioinformatic approaches will be used to identify and characterise novel disease mutations in RAC1 and related genes.

This is a truly inter-disciplinary project led by a basic scientist and a clinical academic who will bring complementary areas of expertise. The project will equip the student with a range of versatile skills including bioinformatic analysis of human genome/exome sequences, cell culture, modelling human disease in model organisms and cloning/transgenesis techniques such as CRISPR. The skills and knowledge provided by project will provide a solid foundation for a future career in disease-gene discovery, precision medicine, translational medicine or neuroscience.

This project will provide training in a diverse array of techniques including bioinformatic analysis of human genomic and exomic sequences, cell culture methods including transfection and immunocytochemistry, molecular biology methods including PCR, site directed mutatagenesis and CRISPR, Drosophila genetic approaches and a variety of imaging techniques including confocal microscopy.

Entry Requirements:
Candidates are expected to hold (or be about to obtain) a minimum upper second class honours degree (or equivalent) in a biological or medical science. The project would suit a candidate interested in using model organism and cell culture approaches to understand human disease.

For international students we also offer a unique 4 year PhD programme that gives you the opportunity to undertake an accredited Teaching Certificate whilst carrying out an independent research project across a range of biological, medical and health sciences. For more information please visit

Funding Notes

Applications are invited from self-funded students. This project has a Band 2 fee. Details of our different fee bands can be found on our website (View Website). For information on how to apply for this project, please visit the Faculty of Biology, Medicine and Health Doctoral Academy website (View Website).

As an equal opportunities institution we welcome applicants from all sections of the community regardless of gender, ethnicity, disability, sexual orientation and transgender status. All appointments are made on merit.


Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study, Millard TH, Katsanis N, Brunner HG, Banka S. RAC1 Missense Mutations in Developmental
Disorders with Diverse Phenotypes. Am. J. Hum. Genet. (2017) 101 466-477.

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