Director of Sonalee Laboratory: Dr José Antonio Aragon-Martin, BSc (Hons), PhD
Born in Madrid, Spain, Dr José Aragon Martin (José) obtained his BSc (Hons) in biochemistry from the University of Greenwich in 2001 and joined the Department of Cardiac and Vascular Sciences at St Georges University of London in 2003. He worked collaboratively between this department and the Department of Surgery, University of Connecticut Health Center as a PhD student, obtaining his PhD in 2009. He remains as Postdoctoral Research Scientist from then until the present, and was appointed director of the Sonalee laboratory (Marfan Trust Research Group) in 2012.
Since then he has made an invaluable contribution through original work mapping the Marfan syndrome gene, and developing genotype – phenotype guidelines to help predict how children with Marfan syndrome will be affected in their adult life. This guide is correct medical and surgical management.
He has also supervised eight PhD students successfully, studying Marfan syndrome and related conditions such as familial thoracic aortic aneurysm, dislocated lens, and idiopathic scoliosis, with the discovery of new genes in each of these conditions. He is also an inspired teacher, lecturer, and mentor within St Georges University of London delivering lectures in the biomedical science (BSc) and MSc courses, assessing exam questions, and examining projects and vivas.
CBL and PBL tutor for MBBS students, and SBL tutor in second year biomedical student groups have added to his experience.
José is happiest when teaching technical skills to students who will become future molecular geneticists, a mushrooming field. He is competent in laboratory techniques of linkage, Sanger sequencing, SNP genotyping, wide geneome amplification, PCR, and exome sequencing ION Torrent and ILLUMINA. Fall insilico analysis is performed daily, and certificates in exome sequencing has been won.
His wide range of experience of finding new causative genes is reflected in his 15 publications regarding genes for glaucoma, ectopia lentis, Marfan syndrome, familial thoracic aortic aneurysm, and the use of Fibrillin – 1 mutations in prenatal and preimplantation genetic diagnosis for couples where one or both partners have Marfan syndrome.
Future work planned includes utilising available pedigrees in the Sonalee lab large database, to find new genes for ectopia lentis, familial TAAD (FTAAD), idiopathic scoliosis, Ehlers Danlos III (joint hypermobility syndrome). Continued analysis of the position and type of FBN1 mutation, and its influence on phenotype has taken him into the field of fine gene mapping. Discovery of modifying genes which may improve the disease outlook in Marfan syndrome families with variable expressivity may lead to improved gene therapy in the future.