MRC Human Genetics Unit
Medical Research Council Human Genetics Unit

Chris Ponting Research Group

Causal variants and mechanisms in complex traits and diseases

Section Head: Biomedical Genomics

Professor Chris Ponting - Section Head: Biomedical Genomics, Chair of Medical Bioinformatics
Professor Chris Ponting - Section Head: Biomedical Genomics, Chair of Medical Bioinformatics

Research in a Nutshell 

The challenge in genomics is to pinpoint DNA variants that alter individuals’ risk to common disease; the challenge in genetics is to determine how these changes alter genetic mechanisms; and, the challenge in cell biology is to find out how these altered mechanisms affect development, cells and organs. Our research uses cutting-edge analytical approaches in genomics, transcriptomics, and cell biology to trace the causal links relating DNA variation to physiological outcome. Our research intersects disease genomics, computational biology, machine learning and molecular mechanism.

We are currently pursuing two major research projects:

  1. Disease and trait genomics. Blending single cell and functional genomics analysis, and machine learning, we predict molecular mechanisms by cell type and developmental stage. We then determine whether DNA variants altering these mechanisms influence human traits, including diseases. This research contributes to MRC’s strategy to investigate biological complexity in real life and at different scales and UKRI’s Delivery Plan to understand today’s greatest challenges that span society and cross disciplinary boundaries. This project is providing a vibrant and eclectic training environment for PhDs and postdocs from diverse backgrounds.  
  2. ME/CFS Genetics.  Funded by MRC and NIHR, we are part of DecodeME, the world’s biggest genetic study of the causes of ME/CFS. This project is a co-production between academics, people with ME and carers. We have also received PhD funds to investigate whether people with ME differ in their T-cell repertoire from healthy controls (funded by Action for M.E. and the Scottish Government’s Chief Scientist’s Office) and to follow-up leads from the DecodeME study (funded by ME Research UK). We support Action for ME’s vision to establish ME/CFS’s first Genetics Centre of Excellence.

Other aspects: The group also contains: Dr Jeanette Baran-Gale, who is undertaking transcriptomic analysis of single thymic epithelial cells to discover how they express nearly all protein-coding genes (with Prof Georg Hollander); Dr Luis Sanchez-Pulido detects deep homology relationships that immediately provide experimentally testable functional hypotheses;

 

Research Programme

People

 
Professor Chris Ponting Group Leader

Øyvind Almelid

Research Fellow
Tom Baker Data Manager, DecodeME
Jeanette Baran-Gale Research Fellow
Joshua Dibble PhD Student
Lyndsey Fletcher PhD Student

Diana Garcia

DecodeME Project Manager
Abel Jansma PhD Student
Cristina Martin X-net Project Manager
Gosia Migdal DecodeME Admin Manager
Gemma Samms PhD Student
Luis Sanchez-Pulido Research Fellow
Jareth Wolfe Research Fellow

Contact

Chris.Ponting@ed.ac.uk

 

Collaborations

  • Professor Georg Hollander, University of Oxford
  • Dr Ava Khamseh & Dr Sjoerd Beentjes, University of Edinburgh

Partners and Funders

  • MRC
  • Wellcome
  • NIHR
  • Action for ME/ Chief Scientist's Office, Scotland
  • ME Research UK

Scientific Themes

Population genomics, long non-coding RNA mechanism, molecular mechanisms in complex disease.

Technology Expertise

Single cell biology