PhD in Advancing Episignature Analysis for Chromatin Disorders Aston University in United Kingdom

This PhD project at Aston University focuses on advancing episignature analysis for chromatin disorders, a group of epigenetic developmental disorders (EDDs) associated with clinical complications such as developmental delay, congenital anomalies, and endocrine issues. EDDs include congenital imprinting disorders and conditions caused by germline pathogenic variants in genes regulating chromatin structure and function. The genetic complexity and heterogeneity of these disorders make variant interpretation challenging, particularly for variants of uncertain significance (VUS).

The research aims to improve the detection and interpretation of episignatures—distinctive DNA methylation patterns associated with chromatin disorders—using a novel sequencing technique (Illumina 5-base sequencing) that provides both DNA sequence and CpG methylation status. This approach promises greater sensitivity and accuracy than current methods, with the potential for direct clinical diagnostic application. Previous work by the group has demonstrated the utility of episignature analysis in resolving VUS pathogenicity, identifying novel episignatures, and providing insights into disease mechanisms and prognosis.

The successful candidate will join the College of Health and Life Sciences at Aston University, based in Birmingham, UK. The project is supervised by Professor Eamonn Maher, an expert in the field. The position is open to both UK and overseas applicants; however, only Home tuition fees are covered. Overseas students must pay the difference between Home and Overseas fees, currently £17,712 for 2026/7, and must confirm their ability to provide this funding in the application.

Applicants should hold, or expect to obtain, a First or Upper Second Class undergraduate degree (or equivalent) in a relevant subject, or a Merit (or above) in a relevant postgraduate Masters degree plus an undergraduate degree. All applicants must provide English language transcripts and certificates, a research statement, personal statement, CV, two academic references, and evidence of English language proficiency (which can be submitted later). Applications are accepted year-round, and interviews will be conducted online via Microsoft Teams. For further information, contact Professor Eamonn Maher at [email protected] or the Postgraduate Admissions team at [email protected].

References for related research include recent publications in Human Molecular Genetics, European Journal of Human Genetics, and Proceedings of the National Academy of Sciences.