Medical Genetics in the digital age

Series Name College of Life Sciences Professorial Inaugural Lecture series
Speaker Professor Carlo Rivolta
Type Lectures & Talks
When 13 Feb 2018, 06:00PM - 07:00PM
Venue Lecture Theatre 1, George Davies Centre
Open To Public
Ticket Price Free
For Bookings Contact Danni Benyon-Payne, dmrbp1@le.ac.uk, 0116 252 5278

Medical Genetics in the digital age
The identification of DNA mutations leading to hereditary diseases has always suffered from a considerable lack of power, mostly due to the imbalance between the poor resolution of classical investigative tools and the intrinsic complexity of the human genome. Things have radically changed during the last decade, since the advent of the so-called “Next-Generation Sequencing” technologies (NGS). By allowing the sequencing of entire genomes simultaneously and the identification of millions of DNA variants per single experiment, NGS has literally revolutionised the way genetic conditions are investigated and diagnosed. However, NGS has also produced a real deluge of data, quantifiable in Gigabytes to Terabytes of information per genome. The bottleneck for current genetic investigations has therefore shifted from data production to data analysis, which is usually achieved by the use of dedicated computer systems and complex algorithms. This lecture will outline Carlo’s research and his efforts to decipher the human pathological genome, from the manual sequencing of individual genes to the computer-assisted analysis of hundreds of genomes. It will also describe the main steps of the NGS revolution, that led to the progressive digitalisation of the field and has created fantastic opportunities in contemporary medical genetics.

Biography
Carlo Rivolta obtained his PhD in Molecular Genetics at the University of Lausanne, Switzerland, and specialised in bioinformatics at the Swiss Federal Institute of Technology. During his doctorate, he participated in the first whole-genome sequencing of a Gram-positive bacterium and the functional analysis of all unknown genes identified in this sequencing effort. He then transitioned to the field of medical genomics at the laboratory of Ted Dryja, Harvard Medical School, for his postdoctoral training. There, he participated in the discovery of novel disease genes and mutations leading to retinal degenerations, via the genetic screening of large cohorts of patients with hereditary blindness. Carlo moved back to his alma mater in Switzerland to be appointed Junior Group Leader at the Department of Medical Genetics, and later Head of the Medical Genetics Unit at the Department of Computational Biology. His lab was one of the first to pioneer the use of NGS, initially tailored to investigate low-complexity genomes, in human and medical genetics. Up to now, he has investigated the genomes of hundreds of individuals and identified the primary DNA insults leading to various genetic conditions and some rare cancers. He is extremely pleased to have been appointed Professor of Medical Genetics at the University of Leicester and he is looking forward to continuing his research within the great Department of Genetics and Genome Biology.

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