Can We Exploit the Power of NGS to Move Towards Personalized Medicine?
Conference Recording Jul 28, 2014
About the SpeakerDr. Jose M. Garcia-Manteiga started his career as a biochemist and molecular biologist (University of Barcelona, Spain). After a PhD on the biochemistry of chemotherapy resistance (Clinical Can Research, 2003) he moved to San Raffaele Institute, Milan, where he worked on the understanding of the cellular biology and the biochemistry of redox in plasma cell differentiation and myeloma (Antioxid Redox Signal 2010,2012,2013, J Proteome Res 2011). During this period he was also in charge of starting up the first Metabolomics Project in the Institute dealing with in vitro B lymphocytes and samples coming from multiple myeloma patients. He acquired experience in 'omics' data analysis working on translational metabonomics and since 2012 he has worked in Elia Stupka's laboratory in Milan at San Raffaele Biomedical Science Park in the bioinformatic core of the Center for Translational Genomics and Bioinformatics, where he is involved in data analysis and biological interpretation of gene expression data coming from Next Generation Sequencing technologies.AbstractAs sequencing becomes cheaper and basic data analysis becomes more automated, NGS is entering the clinical field. Many hospitals have already setup or are in the process of setting up NGS platforms, and making use of them to try to investigate their patients with unprecedented depth of investigation. I will relate about our own experience of setting up a genomics center in a large research hospital, providing a picture of what lies "beyond the hype", and giving examples of specific projects we are pursuing. The talk will discuss some of the successes we could achieve in a short time in certain areas, such as rare genetic disorders, but also the vast challenges which lie ahead in other areas, such as understanding and modeling patients affected by complex diseases. I will discuss the approaches we are developing to further our understanding of complex disease, integrating genetics, epigenetics and trancriptomics to understand, and hopefully prevent, diagnose and treat disease. And finally I will discuss some of the underlying over-arching issues pertaining to making NGS a success in a clinical setting, such as biobanking, accurate biomedical research databases, and the governance and cultural framework.