Pre-Event Keynote talk
The personal genome: promise and implications
Who wants to read your DNA?
It is now possible to sequence someone’s entire genome for around 1,000 euros, and a rush to collect sequence data from large samples of the population has started.
While this quiet revolution in medical research is helping crack the mechanisms of diseases and understand their genetic context with unprecedented speed, it also poses some serious ethical questions: How would you feel if your genetic information was accidentally leaked? If you learnt that your parents weren’t really your parents, or that you were predisposed to develop Alzheimer’s disease? What if your life insurance company demanded access to your genetic information to estimate your payments?
In other words, what are the promises and limits of personal genomics?
Lab homepage: [click here]
Pre-Event Keynote Talk
Dr. Gil Prieto (BSc Biochemistry) did her PhD in Epidemiology and Public Health analyzing interaction between MTHFR genotype and lipids and vitamin levels in hyperhomocysteinemia in healthy adolescents. Because of her interest in Humanitarian Medicine and Development, she quickly decided to turn her attention to Infectious Disease Epidemiology, in particular vaccines. After serving as an adjunct professor she completed research stays in the pharmaceutical industry closely following the clinical development of several vaccines.
In 2010 she obtained her Tenure at the University Rey Juan Carlos (URJC) Madrid where she is the head of the area of immunology teaching immunology, epidemiology, and statistics and the director of the Centre of International Cooperation and Volunteering. At present she is also a Visiting Associate Professor at the Department of Population Medicine, Harvard Medical School, in Boston, where her research focuses on vaccine safety. Recently, she assembled an excellent research team to start immune-proteomic research in Malaria and Dengue.
Lab homepage: [click here]
RNA splicing at the centre of gene expression
In most eukaryotic genes the coding information in the DNA sequence is interrupted by non-coding regions called “introns”. Transcription produces an RNA copy of the gene, which includes the introns. The RNA has to be cut and the coding sequences spliced together to remove the introns and produce a continuous “message” with the correct information to produce a protein. Mistakes in RNA splicing cause serious problems for the cell, as defective proteins are produced, and this sometimes happens as a consequence of genetic defects or disease. Also, as coding sequences can be spliced together in different ways, giving rise to different proteins, this is an important mechanism for increasing the coding capacity of a genome. RNA splicing is therefore a critical process at the centre of gene expression, and there is evidence for proofreading activities that check the fidelity of splicing.
It is now apparent that RNA splicing does not take place independently of other cellular processes. For example, we have obtained evidence that splicing can affect the progress of transcription, and it seems that transcription and splicing are functionally coupled. We propose the existence of transcriptional checkpoints that respond to the proofreading activities that check the fidelity of splicing. We use budding yeast as a model organism as many powerful experimental techniques are available and, as the splicing process is highly conserved, it can provide important insights into splicing in humans.
Jean graduated BSc with Honours in Biochemistry, and PhD from Glasgow University. Postdoctoral research with Professors Ken and Noreen Murray at Edinburgh University introduced Jean to
recombinant DNA technology and she went on to develop the first plasmid shuttle vector for gene cloning in yeast while a Beit Memorial Fellow for Medical Research at the Plant Breeding Institute
in Cambridge. She began studies of RNA splicing in yeast as a lecturer at Imperial College, London, then as a Royal Society University Research Fellow and Senior Research Fellow in the Department
of Molecular Biology, Edinburgh University. After several years as a professor on the teaching staff at Edinburgh University, she was awarded the Royal Society Darwin Trust Research
The Beggs group is studying pre-messenger RNA (pre-mRNA) splicing in the budding yeast Saccharomyces cerevisiaeThey use quantitative approaches, including a highly calibrated quantitative real-time PCR method, to study the flow of RNA through the various RNA processing pathways and the functional links between transcription, splicing and other RNA processing events.
She was elected a Fellow of the Royal Society in 1998 and is a Fellow of the Royal Society of Edinburgh. In 2003 she was awarded the Royal Society's Gabor Medal "for her contributions to the isolation and manipulation of recombinant DNA molecules in a eukaryotic organism, adding a new dimension to molecular and cellular biology".
Royal Society Darwin Trust Professor in the Wellcome Trust Centre for Cell Biology,
University of Edinburgh
Lab homepage: [click here]
Allergies and Antibodies
The worldwide incidence of allergic diseases and asthma in particular has risen dramatically over recent decades, and life-threatening allergies to substances such as peanuts, virtually unknown thirty years ago, is now increasingly common. There is a need not only for new therapeutic agents but also new approaches, since most existing medicines treat only the symptoms. Furthermore, fundamental questions such as why only certain proteins are allergenic, remain unanswered.
Antibodies of the IgE class are responsible for mediating allergic reactions, and through studies of their structure and receptor interactions, we have identified a novel strategy to interfere with the allergic response at a point that is independent of the particular allergen involved, and yet is “upstream” of the inflammatory symptoms that follow an allergic reaction. X-ray crystallographic analysis of IgE revealed unexpected structural features of this antibody, which not only explain the unique functional properties that distinguish it from protective IgG antibodies, but also suggest a strategy for therapeutic intervention. These insights have enabled us to initiate a structure-based drug discovery programme.
X-ray crystallographic studies of IgG and IgM antibodies, and detailed analyses of how they recognise foreign antigens, are similarly contributing to the development of treatments for HIV, influenza virus and auto-immune disease. Our studies of IgE also provide a clue to the nature of allergenicity, i.e. why the body treats innocuous substances as harmful. Finally, I will place our understanding of antibody structure and function in an evolutionary perspective.
Brian Sutton studied chemistry at Oxford University, where he soon became interested in the structure of proteins, especially antibodies. He trained in X-ray crystallography with David Phillips at Oxford for his D.Phil., solving one of the first IgG-Fc structures, and subsequently became a Royal Society University Research Fellow in 1983 to pursue structural studies of antibodies. He moved to King’s College London four years later to establish a protein crystallography group, and there began a productive collaboration with Hannah Gould in studies of IgE. His group has solved the structures of IgE-Fc and its receptor complexes, providing the starting point for drug development programmes to discover new therapeutic agents for asthma and allergic disease. He is now Professor of Molecular Biophysics at King’s, Head of Structural Biology and a founder member of the Medical Research Council & Asthma UK Centre in Allergic Mechanisms of Asthma, which brings together basic and clinical scientists across London.
Professor of Molecular Biophysics
Randall Division of Cell & Molecular Biophysics
King’s College London
Lab homepage: [click here]
Building cortical representations with experience: Insights from visual cortex.
Our understanding of the role of experience in the development of visual cortex is dominated by studies focused on the critical period for ocular dominance plasticity, a period that occurs some weeks after the onset of vision, when the sensitivity to imbalance in the activity of the two eyes is greatest. But visually-driven activity at earlier stages in development also plays an important role in the proper maturation of cortical response properties, especially those that are responsible for the perception of stimulus motion. In ferret visual cortex, at the time of eye-opening, cortical neurons are weakly tuned to the direction of stimulus motion and they lack the columnar structure that characterizes the mature cortical representation. My talk will focus on experiments that use in vivo imaging techniques to examine the influence of experience on the development of direction selective response properties in visual cortex. These results emphasize the highly plastic nature of cortical circuits at this stage of development, and the instructive role of early experience with moving visual stimuli for proper maturation of the cortical circuits that represent motion direction.
Dr. Fitzpatrick is Chief Executive Officer and Scientific Director of the Max Planck Florida Institute. Prior to his arrival in Jupiter, Dr. Fitzpatrick was the James B. Duke Professor of
Neurobiology at the Duke University School of Medicine, Durham, NC, and Director of the Duke Institute for Brain Sciences.
His current research utilizes state-of-the-art optical imaging techniques to probe the functional architecture of circuits in primary visual cortex, and the critical role that visual experience plays in the proper maturation of these circuits.
He has received a number of awards for his research accomplishments, including an Alfred P. Sloan Research Award, The Cajal Club Cortical Discoverer Award, and The McKnight Neuroscience Investigator Award. He has served on numerous scientific advisory boards including the Searle Scholars Program, the DFG (German Research Foundation), the Riken Brain Science Institute, the Max-Planck-Institute for Neurobiology, and the National Institutes of Health. He has served in an editorial capacity for a number of scientific journals most recently as a Senior Editor for the Journal of Neuroscience. In addition to his scientific achievements, Dr. Fitzpatrick has been recognized for his administrative leadership as the founding director of the Duke Institute for Brain Sciences.
Chief Executive Officer and Scientific Director
Max Planck Florida Institute
Lab homepage: [click here]
#1: Olympus Stylus XZ-2 l and Olympus Stylus TG-2 cameras
#2: one year subscription to "Die Zeit"
#3: "Writing Scientific Research Articles"" by Margaret Cargill and Patrick O'Connor