Job Description

About the role

We have an exciting opportunity to join the Rare Genetic Disorders Research Group led by Prof. Stephan Sanders in the Department of Paediatrics at the University of Oxford as a Postdoctoral Researcher.

The group aims to identify, understand, and develop therapies for rare genetic disorders. The group is primarily computational but partners with multiple international labs (including Harvard, Yale, UC San Francisco [UCSF], and the New York Genome Center) to co-design experiments and generate novel datasets, including exome/genome sequencing of hundreds of thousands of individuals, large-scale single-cell data from primary human tissues, spatial transcriptomic data, and experimental genomic screens.

The postholder will join a multidisciplinary team based in the Institute of Developmental & Regenerative Medicine (IDRM) in Oxford but also working at UCSF, and will contribute to both laboratory-based, computational, and analytical research.

The group specializes in neurodevelopmental disorders, including epilepsy and autism spectrum disorder. Over the past decade, this group's work has helped identify hundreds of genes associated with these disorders (Fu et al. Nature Genetics 2022) and has used the genomic data to advance our understanding of the role of noncoding variants identified in whole-genome sequencing (An et al. Science 2018), the role of splicing variants (Jagnathan et al. Cell 2019), and the role of genes associated with neurodevelopmental delay in the developing human brain (Satterstrom et al. Cell 2020). Detailed analysis of mutations in the gene SCN2A, a common cause of childhood seizures and developmental delay, has provided insight into genotype-phenotype relationships (Ben-Shalom et al. Biol. Psych 2017), functional mechanisms (Spratt et al. Neuron 2019), regulatory processes (Liang et al. Genome Medicine 2021), ultimately leading to a potential therapy (Tamura et al. BioRxiv 2022). By focusing on human phenotypes, gene regulatory processes, and the role of sex as a modifier, we aim to advance therapies for all rare genetic disorders.

This position is offered full-time on a fixed-term contract for one year, with the possibility to extend provided further external funding is available.

The post holder will receive training through interaction with researchers in this group and our collaborators. You will be encouraged to attend training and research skill courses provided by the University of Oxford.

About the department

The Department of Paediatrics is committed to equality and valuing diversity. The Department of Paediatrics has been honoured with the Athena Swan Gold award, a national gender equality charter, recognising the Department's innovative policies and practices. We are committed to the professional development of our staff by providing up to ten paid days annually for skill enhancement and allowing applications for additional training funding. By joining us, you will have the opportunity to contribute to a forward-thinking department.

We welcome new staff with ideas who are willing to shape the future of the department that thinks about its staff and wellbeing. In addition to the University of Oxford wellbeing resources, the Department of Paediatrics sponsors weekly exercise classes such as yoga and bootcamp sessions as well as a choir. For staff on work visas, we also offer financial assistance towards visa renewal fees. These activities are designed to promote physical and mental wellbeing among staff members.

Please visit our website to find out more about the Department.

About you

We are seeking a talented and motivated Postdoctoral Researcher to join a multidisciplinary team investigating how splicing shapes the developing human brain and contributes to neurological and neurodevelopmental disorders. This role offers a unique opportunity to work at the forefront of therapeutic genomics, leveraging large-scale functional genomic datasets and cutting-edge computational resources, including university HPC clusters and AWS.

The post-holder will advise colleagues on data access, analytical methods, and protocols, maintain clear documentation, and coordinate data exchange with partner sites and repositories. They will contribute to project design, manuscripts, presentations, and broader dissemination activities, represent the group at meetings and seminars, and help develop ideas for new research directions and funding proposals.

The position requires a PhD in a relevant field, strong bioinformatics and programming skills, excellent communication and organisational abilities, and experience working both independently and collaboratively, with additional merits including high-performance computing experience and expertise in human genetics, therapeutic approaches, or neurogenomic research. As part of the MRC Centre of Research Excellence in Therapeutics Genomics, you will contribute to research that directly informs the development of treatments for rare genetic disorders.

Application Process

You will be required to upload a CV and Supporting Statement as part of your online application. The Supporting Statement should include a cover letter and should also clearly describe how you meet each of the selection criteria listed in the job description. Click here for information and advice on writing an effective Supporting Statement.

To discuss the post in more detail, please contact Stephan Sanders, group leader, using the contact details below.

Only online applications received before 12.00 midday on Friday 19th December 2025 will be considered. Interviews will be held in the second or third week of January 2026.

Committed to equality and valuing diversity