Research Grant Laureates 2012:
(The first FDIME Research Grant award recipients)
Dr Edward Visser (The Netherlands) and Dr Sylvain Audia (France)
The FDIME Research Grants Selection Board Chaired by Prof Loic Guillevin considered a number candidates who submitted rare disease research projects. Ultimately 2 were successful.
Edward Visser MD PhD (The Netherlands) and Sylvain Audia MD PhD (France) were selected to receive the Grant Award of € 20,000 each. At the EFIM-SEMI Congress in Madrid on 26.10.2012, Dr Visser and Dr Audia were presented with their awards.
Dr Edward Visser (left) carried out his research at the University of Cambridge, UK.
Project: ‘Genotype-Phenotype relationship in patients with the novel thyroid hormone resistance syndrome caused by mutations in thyroid receptor alpha-1’.
Publication reference for the outcome of this research:
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)á1 and TRá2: clinical, biochemical, and genetic analyses of three related patients.
Moran C*, Agostini M*, Visser WE, Schoenmakers E, Schoenmakers N, Offiah AC, Poole K, Rajanayagam O, Lyons G, Halsall D, Gurnell M, Chrysis D, Efthymiadou A, Buchanan C, Aylwin S, Chatterjee KK. Lancet Diabetes Endocrinol. 2014;8:619-26.
doi: 10.1016/S2213-8587(14)70111-1.Epub 2014 Jun 23 (*Joint 1st authors).
Dr Sylvain Audia carried out his research at the University Medical Center, Utrecht.
Project: ‘Analysis of Fc gamma receptor expression and functionality in the blood and in the spleen of ITP patients - role of ITP pathogenesis and involvement in the response to rituximab’.
Publication reference for the outcome of this research study:
Splenic TFH expansion participates in B-cell differentiation and antiplatelet-antibody production during immune thrombocytopenia. Authors: Sylvain Audia, Marzia Rossato, Kim Santegoets, Sanne Spijkers, et al. Blood 2014;124(18):2858-2866.