Improving genetic diagnosis of lung disease using AI analysis of multi-‘omic data at University of Southampton

Project Title: 

Improving genetic diagnosis of lung disease using AI analysis of multi-‘omic data

Lead Institute / Faculty: Faculty of Medicine (CES) / National Institute for Health Research (NIHR) Southampton Biomedical Research Centre

Main Supervisor:   

Other members of the supervisory team:  Professor Jane Lucas, Professor Dr Diana Baralle

Start date:  25/09/2023

Project description:

Applications are invited for a 4 year PhD studentship, within the groups of Professor Jane Lucas and Professor Diana Baralle at the NIHR Biomedical Research Centre (BRC), University of Southampton, UK. The studentship is funded by the NIHR BRC to commence 25^th September 2023.

Mendallian genetic conditions such as primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are often difficult to diagnose using gene analysis alone. We have shown that transcriptome and proteome analysis can improve the diagnostic accuracy of PCD. This project will develop methods to automate and integrate results from DNA, RNA and protein analyses of patients with PCD and CF, taking these advances closer to adoption in the clinical setting.  

The successful candidate will gain experience in multiple areas of computational and experimental biology, such as molecular and cell biology, high-throughput techniques, genomics, transcriptomics, proteomics, and advanced bioinformatics analyses. They will use computational approaches to systematically investigate the contribution of each ‘omic to diagnostic accuracy and then to integrate these existing biological sequence data, finding the optimal model. Finally, they will validate the pipelines using novel data generated during the PhD.

Dependent on experience and needs, the student will be supported to attend relevant training courses and to present at conferences.  

As a NIHR BRC Student, the candidate will have access to a number of benefits in addition to the University of Southampton opportunities, including national NIHR training events, and the opportunity to spend up to three months in another institution to gain skills not available in Southampton.

Applicants must be highly motivated, with good communication and organisational skills. They should have the ability to work as part of a multidisciplinary group as well as independently. The successful candidate is likely to have the following qualifications:
A 1^st or good 2:1 degree in a relevant discipline and/or second degree with a related Masters and/or experience in genetics or bioinformatics is desirable but not essential.

Funding information:
Due to funding restrictions this position is only open to UK applicants.  This PhD studentship is funded by the National Institute for Health Care Research (NIHR) Southampton Biomedical Research Centre (BRC), the Respiratory and Allergy Theme and Data Health Society Theme will jointly support the award of the PhD studentship.  The stipend is £18,154.00 for four years, the fees at UK residency rate only and Research Training Support Grant (RTSG) at £1,000 for three years.

Administrative contact and how to apply:

Please click ‘Apply’ and complete the University’s online application form, which you can also find at

https://student-selfservice.soton.ac.uk/BNNRPROD/bzsksrch.P_Login?pos=7201&majr=7201&term=202324

You should enter Professor Jane Lucas as your proposed supervisor. To support your application provide an academic CV (including contact details of two referees), official academic transcripts and a personal statement (outlining your suitability for the studentship, what you hope to achieve from the PhD and your research experience to date).

Informal enquiries relating to the project or candidate suitability should be directed to Professor Jane Lucas (jlucas1@soton.ac.uk).

Closing date:  15/07/2023