(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. Authors: 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 […]

Dr Yvan Jamilloux, France; Dr Inês João da Silva Chora, Portugal; and Dr Rodrigo Liberal Portugal. The FDIME Research Grants Selection Board Chaired by Prof Loic Guillevin considered several excellent candidates who had submitted rare disease research projects. Ultimately 3 were selected. At the ECIM Congress in Prague, 2 October 2013 Prof Daniel Sereni (FDIME President) gave the FDIME 10th Anniversary talk during the Congress Opening Ceremony. This was followed by 3 FDIME Research Grant awards presented by Prof Loic Guillevin, Chairman of the Research Grant Selection Board to:- Yvan Jamilloux, France (€ 20,000); Inês João da Silva Chora, Portugal (€ 10,000); and Rodrigo Liberal, Portugal (€ 20,000). Dr Yvan Jamilloux carried out his research at The Department of Biochemistry, University of Lausanne, Switzerland over a period of 1 year. Project: ‘Functional analysis of macrophage inflammasomes in patients with Adult-Onset Still’s disease’. Publication reference for the outcome of this research: Treatment of adult-onset Still’s disease: a review. Authors: Yvan Jamilloux, Mathieu Gerfaud-Valentin, Thomas Henry, Pascal Sève. Therapeutics and Clinical Risk Management 2015:11 33–43 Dr Inês João da Silva Chora carried out her research at The Division of Rheumatology, Internal Medicine Dept, Università degli Studi di Firenze, Italy over a period […]

Dr Patricio Ricardo da Terra Aguiar from Lisbon, Portugal (no photo available) Dr Aguiar’s Research Study Project: ‘Early markers of heart and kidney damage in Fabry’s disease’ was undertaken at the University College & Royal Free Hospital, London commencing October 2015, for a period of 2 years. His Grant award of € 20,000 was presented to him at the 14th Congress of the European Federation of Internal Medicine in Moscow 15 – 15.10.2015.

Dr Stephanie Guillet from France Dr Guillet’s rare disease study project involves identification and functional analysis of disease causing gene mutations that control macrophage functions in families with severe Systemic Lupus Erythematosus. Title of research: ‘Familial Lupus – identifying new disease causing genes in Lupus’. Dr Guillet’s research work is undertaken out at the Memorial Sloan Kettering Cancer Center & Cornell University, New York, USA from November 2015 for one year. At the ECIM Congress, Beurs van Berlage, Amsterdam on 02.09.2016, Dr Guillet was presented with her FDIME Grant award of 20’000 Euro.