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 Research Assistant. 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. We are now seeking a highly motivated and well-organised Research Assistant to support a range of projects focused on the causes, consequences, and therapeutic targeting of genetic disorders. You will join a multidisciplinary team located in the Institute of Developmental & Regenerative Medicine (IDRM) in Oxford and contribute to both laboratory-based, computational, and analytical research. The Research Assistant will be part of an interdisciplinary team working across sites at both Oxford and UCSF. 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 highly motivated and well-organised Research Assistant with strong foundations in genetics and a keen interest in understanding and treating rare genetic disorders. The ideal candidate has a degree in a biological or biomedical science and hands-on experience working with genetic or genomic data. They bring a solid understanding of human genetics—especially as it relates to neurodevelopmental disorders—and are comfortable contributing to both laboratory and computational research within a collaborative, multidisciplinary environment. This person is detail-oriented, an excellent communicator, and adept at managing documents, metadata, and complex research workflows. They can balance independent work with teamwork, support senior researchers with data analysis, and contribute to manuscripts, presentations, and grant applications. They are enthusiastic about learning and helping to train junior students, as well as presenting findings in internal meetings. Ideally, they also bring: experience with bioinformatic tools or genomic annotation, exposure to neuroscience or genetics research, a postgraduate qualification, prior involvement in scientific writing, or familiarity with large language models and evaluation of their outputs. Overall, we are looking for a proactive, organised researcher who is excited to help drive forward computational and genomic projects aimed at understanding and developing therapies 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, the group leader, using the contact details below. Only online applications received before 12.00 midday on Wednesday 7th January 2026 will be considered. Interviews will be held as soon as possible thereafter. Committed to equality and valuing diversity.