#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 genetic cause of tuberous sclerosis. . With my increasing interest in genetic causes of diseases I applied for an available position in Sue's group, got it, and started working with Sue in October 1994. 

For me a personal highlight came in 1997 with the discovery of TSC1 gene. Our group at UCL was working with researchers in the US, Poland, Holland, Bath, Cardiff and Cambridge as part of a consortium to find the TSC1 gene. We had to continue working over Easter 1997, during which UCL is officially closed, to get enough information and we had to be very secretive about our findings. Everyone in our group devised their way of concealing the discovery. I remember I labelled my bit of the work during that period as Eisenhower!!!! This was due to the US connection in this discovery as our US collaborator was the first to indicate that changes identified in their TSC patients strongly suggested that the TSC1 gene had been found.  

Another highlight was the creation of the worldwide, publicly available TSC Variation database that Sue and 1 started in 2005. We record all changes found in the TSC1 and TSC2 genes. This type of data means that diagnostics labs can now provide more informative reports for clinicians who can then look after their patients better. We frequently communicate with clinicians, clinical geneticists and diagnostic labs to help resolve some questionable findings. Seeing that our work is helping patients is very satisfying and we are very focussed on enabling early and correct diagnosis, and better clinical management.  

In 2015, through our database work, we were able to confirm that if there are any changes within certain sections of the TSC2 gene then the individual will not present with classical TSC. This is particularly important in this era where several genes are interrogated at the same time in any one individual for various reasons. This avoids unnecessary misdiagnosis. 

Finally for me – my short-term hopes are that tools will be designed to help parents cope with a diagnosis of TSC in their child. And long-term, I hope that the defects causing differences in how TSC appears in patients will be identified and completely corrected.