TSA Blog

  • #TSA40stories 'Reflections on 30 years in paediatrics and TSC'

    I consider myself very lucky and privileged to have spent the last 30 years working with people and their families who have Tuberous Sclerosis Complex (TSC), writes Dr Charles Shepherd, of Belfast Hospital Trust. It is a fascinating condition, in that there are some many variations of the condition. It is also a terrible condition for the people who are afflicted with it. To be able to help to try and overcome these difficulties has been a truly enriching experienc.. ...more

  • #TSA40stories 'Helping patients is very satisfying'

    I first came to be involved with this research thanks to travelling to UCL to use a laser microscope in the MRC Human Biochemical Genetics unit for my work (at a different university) which was on generating somatic cell hybrids as resources for researchers to use in putting together the human genome, writes Dr Rosemary Ekong, Department of Genetics, University College London. I met with Sue Povey then for the first time and got to know about her work on finding the ge.. ...more

  • #TSA40stories '1997 and one exciting Easter'

    My background is in medicine although I only practised for two years, writes Professor Sue Povey, Geneticist at University College London. Then I moved to the Medical Research Council Human Biochemical Genetics unit at University College London. And while I was there I started to do gene mapping. Between the 1970s and 1980 at least one gene had been found on every chromosome – we’d not got very far! But by 1985 people were just beginning to think you might.. ...more

  • #TSA40stories - 'Me, my sisters and TSC'

    Here Bethan Vaughan, TSA Research Assistant, discusses the impact that her sister Katie's diagnosis of TSC has had on all their lives. What impact did your sister's diagnosis have on you as a child? I remember being very shocked and upset when I first heard the news. For a few months, Katie had been suffering with frequent headaches accompanied by nausea and vomiting. One day during a routine eye test, the optician told mum that he had seen something called Pa.. ...more