Overview

Cohort: 6
PhD Start Date: October 2022

I am a Paediatrics trainee interested in the genetic basis of developmental disorders.

I graduated from the University of Oxford in 2017 and moved to Southampton for an Academic Foundation Programme in Clinical Genetics. In 2019 I completed an MSc in Genomic Medicine from Imperial College, London. In 2020 I moved to Manchester to start an Academic Clinical Fellowship in Paediatrics. I was awarded a 4Ward North PhD Fellowship in 2022.

PhD title

Systematic computational, clinical, and functional characterisation of variants in gene termini.

Summary of the project

Around 1% of children are born with a developmental disorder, of which the majority have a genetic cause. They cause lifetime morbidity and are a leading cause of infant death in the developed world. However, diagnosis is challenging and over half of patients remain undiagnosed despite exhaustive investigation.

A major bottleneck to uplifting diagnoses and accelerating therapies for these conditions is the accurate interpretation of genomic data. In this Fellowship, I am characterising the landscape, impact, and pathogenic mechanisms of genetic variants in gene termini (the 3’ ends of genes). These regions are worthy of particular focus because they harbour unique variant types with distinct molecular mechanisms.

My work combines computational analyses of large multi-omic datasets (e.g. UK Biobank, Genomics England, the Deciphering Developmental Disorders Study) with detailed functional and clinical characterisation of genetic conditions in individual patients.

These approaches will offer us fundamental insights into genome biology and help to clarify the basic mechanisms underpinning new developmental disorders. Importantly, we are also finding new diagnoses for children with unsolved developmental disorders.

Supervisors and key collaborators

• Prof Siddharth Banka, The University of Manchester (Lead Supervisor)
• Dr Jamie Ellingford, The University of Manchester (Supervisor)
• Prof Colin Johnson, University of Leeds (Supervisor)

Specialty interests and techniques

• Exome and whole genome sequencing
• Transcriptomics
• Developmental disorders
• Statistical genetics
• Computational biology and bioinformatics

Career aspirations

My long-term ambition is to be a clinician-scientist, leading discovery research in computational and functional genomics. I plan to spend my career addressing fundamental questions in genome biology and working to accelerate diagnosis and therapy for children with developmental disorders. Clinically, I hope to work as a consultant Clinical Geneticist specialising in developmental disorders.

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