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modelling skeletal dysplasias in zebrafish.


Department of Biomedical Science

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Dr H Roehl , Dr Meena Balasubramanian Applications accepted all year round Self-Funded PhD Students Only

About the Project

Whole genome sequencing studies have led to a vast amount of new candidate genes for human diseases. One such gene is NBAS (Neuroblastoma Amplified Sequence Gene) which when mutated results in acute liver failure and skeletal abnormalities (SOPH syndrome, Short stature; Optic atrophy; Pelger-Huet anomaly) [Maksimova et al., 2010]. Patients with NBAS mutations are subjected to a lifetime of recurrent fractures, repeated episodes of acute liver failure needing recurrent hospital admissions and immune deficiency [Balasubramanian et al., 2017]. Recently we have developed a zebrafish model which carries mutations in NBAS and displays skeletal malformations that are reminiscent of the human condition. Analysis done in our lab as well as others suggests that NBAS may play a role in the secretion of collagen. This PhD project builds upon our work focusing on the zebrafish model to unravel the molecular causes of this disease and to develop a platform for high-throughput drug screens to identify drugs that may one day be used in the clinic. During your PhD, you will use cutting-edge techniques such as lightsheet and AIRY scan microscopy, CRISPR/Cas9 gene editing and robot-based drug library screening.


As a PhD student in one of the science departments at the University of Sheffield, you’ll be part of the Science Graduate School. You’ll get access to training opportunities designed to support your career development by helping you gain professional skills that are essential in all areas of science. You’ll be able to learn how to recognise good research and research behaviour, improve your communication abilities and experience the breadth of technologies that are used in academia, industry and many related careers. Visit http://www.sheffield.ac.uk/sgs to learn more.

Science Graduate School
As a PhD student in one of the science departments at the University of Sheffield, you’ll be part of the Science Graduate School. You’ll get access to training opportunities designed to support your career development by helping you gain professional skills that are essential in all areas of science. You’ll be able to learn how to recognise good research and research behaviour, improve your communication abilities and experience the breadth of technologies that are used in academia, industry and many related careers. Visit www.sheffield.ac.uk/sgs to learn more

Funding Notes

First class or upper second 2(i) in a relevant subject. To formally apply for a PhD, you must complete the University's application form using the following link: http://www.sheffield.ac.uk/postgraduate/research/apply/applying

All applicants should ensure that both references are uploaded onto their application as a decision will be unable to be made without this information.

References

Maksimova N, et al. Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly. J Med Genet. 2010 Aug;47(8):538-48. doi: 10.1136/jmg.2009.074815

Balasubramanian M, et al. Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta. Bone. 2017 Jan;94:65-74. doi: 10.1016/j.bone.2016.10.023.
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