Skip to main content
Hywel Williams

Dr Hywel Williams


Senior Lecturer

School of Medicine

+44 29206 87866
Institute of Medical Genetics Building, Room 2.33a, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN


My research is focused on improving our understanding of the biological systems that when dysregulated lead to disease phenotypes in humans. Primarily I am working on rare diseases with an emphasis on neuro-related phenotypes.

One of my main interests is how gene expression is regulated both spatially and temporally during development and throughout life and how DNA variation can influence this. To understand this will require knowledge of how the genome is organised in 3D space, which regions of the genome are in contact to regulate gene expression and the full repertoire of variation each individual possesses within both the coding and non-coding genome.

My aim is to improve our ability to make a diagnosis in the 50-60 % patients with rare disease who currently remain undiagnosed and armed with this knowledge build a better understanding of the functional biology that leads to disease. In turn this will improve our ability to develop new therapeutics to treat patients and in the future may even allow us to prevent these diseases form occurring.

To do this will require the use of techniques such as spatial transcriptomics, Hi-C and whole genome sequencing. The analysis of the Big Data generated will require smart algorithms and informatics to extract the maximum amount of information in a meaningful way. I believe network analysis techniques will be hugely important in helping us combine this information so we understand the composition of biological systems in healthy and disease states.

To achieve our goals will require us to work together as a community to share our data in an open and transparent way.


























Book sections


Career overview

  • Senior Lecturer (2019 - present), Division of Cancer & Genetics, Cardiff University
  • Senior Research Associate (2013 - 2018), GOSgene, Great Ormond Street Institute of Child Health, UCL
  • Research Associate (2005 - 2012), Department of Psychological Medicine, Cardiff University
  • Research Assistant (1999 - 2005), Department of Psychological Medicine, Cardiff University
  • Research Technician (1997 - 1999), Department of Psychological Medicine, Cardiff University

Education and qualifications

  • 2018: Associate Fellow, Higher Education Academy
  • 2005: PhD: Search for schizophrenia susceptibility genes on chromosome 22 (supervisor Prof Sir Michael J Owen). Cardiff University, Dept of Psychological Medicine
  • 1996: BSc (Hons): Genetics, Cardiff University
  • 1994: Applied Biology, University of Wales Institute Cardiff

Grant Funding

  • 2022: Successful award of TSC Alliance Biosample Seed Grant (£11,360) "Using Spatial-Transcriptomics to define gene expression profile of SEGAs in Tuberous Sclerosis Complex". (lead-PI)                                                                                    
  • 2021: Successful award of Research Infrastructure Fund (£333,000) "Purchase of NanoString GeoMx Digital Spatial Profiler and nCounter". (lead-PI)
  • 2019: Successful award of ISSF3 Pilot Grant (£19750) “Characterisation of gene regulation changes in human chd8 mutant iPSCs during neural differentiation.” (co-PI's, Professor Adrian Harwood and Wales Gene Park)

  • 2019: Successful award (£1000) from Genomic Partnership Wales to run “Rapid Diagnostic Workshop”. Inaugural conference bringing clinical and academic experts from across the UK and Ireland together to discuss best practices for the use of next generation sequencing technologies in rapid clinical diagnostic testing.

  • 2018:Successful award of NIHR  Infrastructure Visiting Speaker Award (£500) to present lecture at Manchester Centre for Genomic Medicine.

  • 2018: Development of NIHR Infrastructure Visiting Speaker Award. (

  • 2016: Successful award of UCL Bogue travel fellowship (£2,850) to visit Harvard University, Dana Faber Center for Cancer Systems Biology, Boston MA.

  • 2015: Co-applicant on successful application to the charity Children with cancer UK for £437,000 funding for a project  "Molecular Characterisation and Assessment of Potential Biomarkers and Novel Drug Targets for Childhood Craniopharyngioma". (Lead PI Professor J.P. Martinez-Barbera)