Dias, Cristina - consultant clinical geneticists


Consultant profiles


Area of expertise:

  • Biography

    Cristina Dias trained in Medical Genetics in Porto, Portugal, where she developed an interest in developmental disorders. She went on to work as a consultant in her native Canada, also qualifying in Medical Genetics with the Royal College of Physicians and Surgeons of Canada.

    In British Columbia, Cristina aligned her clinical and research interests using new genomic technologies to investigate children with rare neurogenetic and neuromuscular diseases.

    To further her skills and expertise towards the understanding the pathophysiology of genetically determined intellectual disability (ID), Cristina went on to do a PhD at the University of Cambridge and Wellcome Sanger Institute. There, she demonstrated how mutations in BCL11A cause a novel ID syndrome using cellular and mouse models.

    Cristina maintains her interest in investigating the role of transcriptional regulation control in early neurodevelopment. She was appointed Clinical Senior Lecturer in the Department of Medical and Molecular Genetics at King’s College London, and has a secondment at the The Francis Crick Institute. Here Cristina is working with neurodevelopmental biologist Francois Guillemot to determine the role of BAF swi/snf chromatin regulation in early brain development, and the mechanisms underpinning abnormal neurodevelopment in human cellular models.

    As a clinician and researcher, her ultimate objective is to make a significant contribution to the develop­ment of translational research in neurodevelopmental disorders and thereby improve the health care of children and their families.

  • Specialist interests

    • Intellectual development disorders
    • Inherited diseases of epigenetic regulation
    • Aicardi syndrome
  • Educatuin and qualifications

    • 2001, MD (Medical Degree, Licenciatura em Medicina), University of Porto

    • 2009, Specialist in Medical Genetics, Portugal

    • 2011, Royal College of Physicians and Surgeons of Canada, Fellow in Medical Genetics and Genomics

    • 2012, Fellow of the Canadian College of Medical Geneticist

    • 2017, PhD, Biological Sciences, University of Cambridge.

  • Awards

    Honours and awards

    • 2012, British Columbia Clinical Genomics Network. BCCGN Travel Award
    • 2011, University of British Columbia Medical Genetics Research Day - Senior Poster Prize.
    • 2010, British Columbia Clinical Genomics Network Physician Fellowship.
    • 2010, University of British Columbia Medical Genetics Research Day - Senior Poster Prize.
    • 2008, European Society of Human Genetics 2008 Conference Fellowship Award.
    • 2007, Calouste Gulbenkian Foundation for Science Scholarship.
    • 2007, Portuguese Society of Human Genetics 2007 Clinical Research Award.
    • 2001, Silva Araújo Research Award, University of Porto, Instituto de Ciências Biomédicas Abel Salazar.


    • 2018-2021, Wellcome Clinical Research Career Development Fellowship
    • 2012-2015, Wellcome Trust PhD Programme for Clinicians Fellowship
    • 2011-2012, Canadian Child Health Clinician Scientist Program Doctoral Award
    • 2010- 2011, BC Child and Family Research Institute Clinician Investigator Fellowship.
  • Reserch interests

    • Intellectual development disorders
    • Neurodevelopmental biology
    • Epigenetics and Chromatin biology
    • Swi/snf chromatin remodellers
    • Translational genomics

    Cristina Dias leads clinical research study at Great Ormond Street Hospital in collaboration with The Francis Crick Institute and King’s College London: BUILD - BAF complex & related genes underlying intellectual disability (Defining the clinical and molecular phenotypes associated with mutations in the BAF swi/snf complex and related genes underlying intellectual disability, REC Ref 17/LO/0981)