28 February 2017 is the tenth international Rare Disease Day, focusing on the theme of research. We take a look at how the UCL Research Catalyst Awards have enabled an international collaboration tackling rare diseases to go from strength to strength.
In 2014 UCL Professor Jim Owen (Emeritus Professor of Molecular Medicine) and Professor David Abraham (Professor of Cell and Molecular Biology) travelled to Brazil thanks to a £5,000 Santander Universities-funded Research Catalyst Award.
Their visit identified research on rare disease (RD) as a significant area that could be jointly developed between UCL and institutions in north-east Brazil – a centre of global rare disease.
The partnerships formed went on to help with students and post-doctoral researchers coming to UCL via Brazil’s Science without Borders (SwB) mobility programme.
Professor Owen said the area of RD was identified due to two compelling reasons: (i) that it is now Brazilian National Policy to introduce early and accurate diagnosis of RD plus treatments for affected individuals into the public health system; and (ii) that genetic clusters of RD are concentrated in north-east Brazil due to centuries of colonisation and crossbreeding between natives, Europeans (Portuguese, Dutch) and African slaves.
Building on links with Universidade Federal de Pernambuco (UFPE), this joint goal progressed further with Brazilian researchers from LIKA [the leading biomedical centre in north-east Brazil situated on the UFPE campus] visiting UCL Departments and the UCL Institute of Child Health (ICH) in September 2014. In turn, this led to a highly successful Rare Diseases symposium (RDis-2015) the following April attended by seven UCL researchers, including three from ICH.
The Zika virus outbreak slowed progress in 2016, but a second symposium ran in March 2016 with the clear aim of sustaining emerging partnerships between UK-Brazil laboratories and developing new ones. UCL links with five universities (UFPE, Universidade Federal Rural de Pernambuco, Universidade Federal do Ceará, Universidade de Fortaleza and Universidade Federal da Bahia) in north-east Brazil are now in place, with a vision for UFPE and associated Recife Hospitals to form a Reference Centre for RD in line with recent National and Interfarma recommendations. At the same time the partnership will seek to widen this consortium to encompass Brazil’s leading universities.
Prof Owen highlighted a further strong positive note as the involvement of GlaxoSmithKline at the 2016 symposium – it is hoped this tentative partnership will be developed in the months ahead, along with involvement of further pharmaceutical companies.
These research links are now beginning to show tangible evidence of success, through publications (a 2015 PLoS One article, two submitted and others in preparation) and also through grant funding (with UCL researchers included grants of £185,000 and £144,000 to UFC and UFPE, respectively), while UFPE was named on a £20,000 grant awarded to Drug Discovery, UCL School of Pharmacy.
Links help foster mobility
Thanks to links fostered by the original visit and subsequent collaborations, a number of Brazilian students and post-doctoral researchers have come to UCL via SwB.
Dr Ayrles Brandão da Silva (a post-doc SwB fellow from Fortaleza) spent a year in UCL’s Institute for Liver and Digestive Health working with Dr Raj Mookerjee, while Isabella Cantanhede (a UFPE medical student and undergraduate SwB fellow) undertook a five-month research project in UCL’s Department of Clinical Neurosciences with Dr Jan-Willem Taanmen. While in the UK they had the opportunity to meet Professor Sir John Gurdon when he gave the UCL Clinical Science Prize lecture.
Sandwich PhD student Felipe Domingos de Sousa investigated the therapeutic potential of plant lectins in healing processes and other related skin diseases under the supervision of Professor David Abraham (UCL Centre for Rheumatology and Connective Tissue Diseases). In Brazil, Felipe has dual positions in the Department of Biochemistry & Molecular Biology, Universidade Federal do Ceará and in the Centre of Experimental Biology (Nubex), Universidade de Fortaleza. Before leaving UFC, he successfully cloned and expressed Frutapin, a lectin from Artocarpus incisa seeds, in milligram amounts from E coli cultures.
Two further SwB sponsored students from north-east Brazil have also spent periods at UCL: Victor Passos (UFPE) who worked with Professor Steve Hart at ICH and Kildere Marques-Canuto, who received training in the Division of Medicine, RFC. Though the SwB programme is currently suspended, three other UFPE researchers are currently seeking fellowships to come to UCL: Dr Luiz Alberto Mattos to spend a year at UCL Department of Clinical Trials, Dr Carolina Córdula for a proteomics study at ICH (Dr Kevin Mills) and a PhD student, Andriu Catena who will extend Dr Ayrles Brandão da Silva’s project.