A contagem decrescente para o iMed 6.0 já foi iniciada: datas, temas das sessões, oradores de excelência e muitas novidades foram reveladas no passado dia 19 de maio. Porém, ainda há muito para contar sobre o que aconteceu na Reitoria da Universidade NOVA de Lisboa em outubro de 2013 – a FRONTAL esteve presente não só para contar em primeira mão o que de melhor na Ciência ia sendo divulgado, como também para entrevistar todo e qualquer orador interveniente naquele que foi um ponto de viragem nos congressos organizados por estudantes de Medicina, para estudantes de Ciências da Vida.

Personalized Medicine: an Overview

The human genome is the most fundamental anatomy of a patient that will be used to guide clinical care this century. A notable example is BRCA1 mutation, for which bilateral mastectomies, immediate reconstruction and laparoscopic oophorectomy can be recommended. A brief historical review is important for clinicians to understand the current state-of-the-art of genomic sequencing and the application of actionable genes to care of their patients. In 1869, Frederick Miescher discovered DNA within the nucleus of white blood cells. In 1910, Albrecht Kossel won the Nobel Prize for the discovery that DNA was composed of four nucleotides. In 1953, Watson and Crick discovered the double helix structure of DNA and won the Nobel Prize in 1962. For the past 23 years, transformational advances in genomic science and genomic discoveries have involved medical universities worldwide, most notably the sequencing of the human genome in 2000 from pooled DNA over a ten year period at a cost of $3B. In 2007, the genome of a single patient was sequenced in two months using next generation sequencing at a cost of $1M, representing an exponential increase in speed of sequencing and an exponential decrease in cost. Currently, whole genome and whole exome next generation sequencing at a cost of $2000 per patient are being used to map the genomic profile of cancer and other diseases. With access to diseased tissues and robust clinical databases, clinicians of all disciplines are collaborating in this discovery phase of genomics and will play a key role in the application of personalized genomic medicine to clinical care.

– F. Charles Brunicardi, Department of Surgery, David Geffen School of Medicine at UCLA Los Angeles, CA

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