The BRC spoke to Dr Marie Scully, whose research focus is thrombotic thrombocytopenic purpura (TTP), a rare blood disorder that causes blood clots to form in small blood vessels throughout the body, on Rare Disease Day.
Tell us about yourself as a researcher/clinician and how you became interested in rare disease research?
As a very junior doctor it was clear I wanted to do haemostasis. At the end of my training I was given an opportunity to undertake a postgraduate degree at UCL’s department of haematology, continuing my interest in TTP. I became a consultant at UCLH in 2007 and was fortunate to receive a grant from the Medical Research Council to expand our regional TTP registry to a national database. Simultaneously, publications on treating immune mediated TTP helped alter the outcomes of patients. UCLH is currently the biggest international site for TTP.
What is TTP and how does it develop?
In patients with TTP, blood clots form in small blood vessels throughout the body. These clots can limit or block the flow of oxygen-rich blood to the body's organs and result in serious health problems such as strokes or epileptic events. TTP is caused by a lack of activity in the ADAMTS13 enzyme, a type of protein in the blood. TTP is a relatively new disease with the ADAMTS13 enzyme only discovered in 1997.
Are there specific scientific developments and/or technologies that have made your research possible?
The patients; development of assays in real time in the research unit; collaborations; and genetic technology that can be applied to genome wide association studies (GWAS) where the entire genome can be scanned in order to pinpoint genetic variants associated with a particular disease.
How can patients and the public help researchers discover more about TTP?
UCLH Charity has set up the TTP Education and Research Fund which seeks to support a national service so all areas in England are able to provide comparable services. Donations to the fund also support continued research at UCLH and UCL and help the team to provide information for patients.
Of the thousands of rare diseases, how do pharmaceutical companies decide which ones to focus on?
Rare diseases have significantly smaller patient populations, but usually the mechanism for the conditions is more defined, so the manipulation of compounds to alter or treat a disease is developed. In TTP, the two important developments are a recombinant version of the missing ADAMTS 13 enzyme and nanobody techology to help attain a normal platelet count quicker.
