Research Update Spring 2018

Good News! We are extremely grateful to the Trustees of the charity “Make My Day Better” for their most generous travel grant of £2,984 which took three of our research group to Amsterdam to the 10th International Marfan Syndrome Conference (Amsterdam 3rd-5th May 2018). Dr Child led the research group composed of Dr José Aragon Martin, PhD, Alex Wan, PhD Student, and industrial placement student Michael Garcia.
 
Dr José Aragon Martin PhD
José is the Director of the Sonalee Laboratory where our molecular genetic research takes place. He is a recognised international expert on the gene for Marfan syndrome which causes aortic rupture and presented in Amsterdam on the topic “phenotype – genotype correlation in Marfan syndrome”. He has contributed to the international map of the gene for this disease, which is held in Paris and available to all international scientists. Each new family has their own error in the gene and this is put on the map when reported.
 
Alex Wan PhD Student
Alex is just taking his PhD exam on the topic of “New Genes which cause Aortic Aneurysms”. In the past three years he has discovered two new genes to contribute to the 53 genes already reported in the literature, and he presented this new discovery in Amsterdam. These genes will now be added to screening panels for families around the world who have aneurysms. 
 
Michael Garcia
Michael is an industrial placement student doing a year in our laboratory, and has become fascinated with the world of molecular genetics. His poster includes large Marfan syndrome pedigrees used to look for modifying genes. Michael is considering a career in molecular genetics (the study of DNA and RNA) so attending this conference may help him to decide to pursue this as a future career. Michael has analysed four large Marfan syndrome families to study whether inheritance from a mother, or a father, makes a difference in severity of the condition.  These families will also be studied for the presence of modifying genes which could be harnessed to lessen severity and prolong life.
 
A full report of this meeting will be included in our Autumn newsletter.
Research Update Spring 2018 Dr José Aragon Martin
Research Update Spring 2018 Alex Wan
Research Update Spring 2018 Michael Garcia
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