Medical Genome Sequencing:
understanding the genomes of disease

Barcelona, Spain, 28-29 October 2010

 

Organisers

Xavier Estivill, Centre for Genomic Regulation, Barcelona, Spain
Roderic Guigo, Centre for Genomic Regulation, Barcelona, Spain


Introduction

Revolutionary developments in genome sequencing technologies will soon enable us to sequence an entire human genome at an affordable price and within a short time frame. At present, high-throughput sequencing technology is increasingly being applied in basic biomedical science and is being validated for diagnostic sequencing of a small numbers of established disease genes. When applied more widely this approach has the potential to elucidate the full genetic background of a given disease, which will be of major importance for the accurate classification of disease and for the design of therapeutic strategies, bringing personalized genomic medicine closer to reality. Medical genome sequencing (MGS) involves a great variety of different biomedical fields and includes (but is not limited to) clinicians, human geneticists, sequencing experts, bioinformatics experts and industrial stakeholders. A strong European network in MGS will contribute to ensure a front-running position to European laboratories, clinics and commercial enterprises in the competitive field of genomic medicine . In order to achieve this, a virtual platform called gEUVADIS has been initiated in 2008 for the joint programming of genomic medicine research in Europe. The gEUVADIS initiative (European profiles of structural and sequence VAriation of the Genome in DISease) was presented last year to the European Science Foundation and other stakeholders at the EuroBioFund III meeting. The gEUVADIS initiative is now ready for the launch of its first conference in a series aiming at shaping personalised genomic medicine in Europe.

This conference aims at providing the basis for future developments in genomics medicine in Europe. The meeting will, in many ways, build on the international success of the “Advances in Genome Biology and Technology” (AGBT) meeting, held annually in Marco Island, Florida, but with a major focus on medical applications of high-throughput genome sequencing. The AGBT meeting (www.AGBT.org) has become the premier scientific forum for capturing the latest advances in nucleic acid sequencing technologies and their applications to diverse areas of biology and biomedicine. The gEUVADIS sessions aim to become an important forum for European leaders (scientists, pharmaceutics, or biotechnologists) and stakeholders involved in developing personalised genomic medicine, a now close future for health care worldwide.

Main objectives of the meeting

•  Provide an overview of medical applications for next-generation sequence technology.

•  Establish a strong multidisciplinary “Medical Genome Sequencing” network consisting of clinicians, sequencing and bioinformatics experts, and industrial scientists.

•  Build extensive knowledge and expertise in medical sequencing applications, to accelerate implementation of new sequencing technologies in routine DNA diagnostics and to facilitate developments in personalized genomic medicine.

This first in a series of meetings will be focused on the latest developments in next-generation sequencing technology and its medical applications. The first day of the conference will focus on presenting the ongoing medical sequencing projects in Europe and showing the opportunities for medical applications. The second day of the conference will be dedicated to state-of-the-art technologies and their potential applications. The day will close with a visionary session on the future of personal genomic medicine. With this conference the organisers aim to find European-wide solutions to the current issues that each of the players is facing on its own.

Draft Programme

Day 1 Next-Generation Sequencing and Medical Applications
8h – 9h: Registrations
9h – 9h30: Introduction

“Exploring the Genome”
This session provides an overview of sequencing experience from a selection of groups and/or national initiatives from six of the following countries: Germany, Netherlands, Spain, Belgium, France, UK, Italy, Denmark, Israel, Switzerland, Portugal, Austria, Greece, and Sweden. The presented initiatives are of course not necessarily country-specific, but could cross borders. The initiatives could be technology or programme driven, being the best representation of ongoing scientific activities in the field.

9h30 – 9h55: Sequencing Genomes in Thousands
9h55 – 10h20: Examining Expression
10h20 – 10h45: Layers of Genome Organisation
10h45 – 11h15: Coffee break
11h15 – 11h40: Making Sense of the Sequence
11h40 – 12h05: Levels of Information
12h05 – 12h30: Validating the Sequence in Millions
12h30 – 12h50: Presentations by young scientists
13h00 – 15h00: Lunch break/Poster session

“Medical targets”
In order for personalized genomic medicine to become a reality, significant advancements in using next-generation sequencing and 3 rd generation sequencing in a clinical setting should be achieved. This session deals with the progress on disease-specific next-generation-sequencing-based research.

15h00 – 15h25: Genomic Information in the Diagnostics Arena
15h25 – 15h50: Cancer Genome
15h50 – 16h15: Neurodegeneration
16h15 – 16h45: Coffee break
16h45 – 17h10: Metabolic Disorders
17h10 – 17h35: Inflammatory Diseases
17h35 – 18h00: Rare Disorders
18h00 – 18h20: Presentations by young scientists
18h20 – 18h45: Closing session

Facilitator to conclude on talks of the day

18h45 – 19h45: Reception
20h – 22h: Gala Dinner

Day 2 From Sequence to Information: Technology Challenges

9h – 9h30: Introduction

“Technologies”
Effective application of personalised genomic medicine depends upon developments in technology. In this session representatives from the various NGS and 3rdGS technologies that are or will soon be available are invited to give an update on the latest developments. Notably, this session will focus on the application of new technologies; the aim is to invite first users (usually academic) of the technologies. For technologies that are not yet on the market, we invite technical specialists from the companies or beta-testers.

9h30 – 9h55: 454
9h55 – 10h20: Illumina
10h20 – 10h45: SOLiD
10h45 – 11h15: Coffee break
11h15 – 11h40: Helicos BioSciences
11h40 – 12h05: Oxford NanoporeTechnology
12h05 – 12h30: Pacific BioSciences
12h30 – 12h50: Presentations 2 promising young scientists
13h – 15h: Lunch break/Poster session

“Future”
The future cannot be predicted, but we can make educated guesses about the implementation of NGS-based medical applications and the required steps to take. In this session, visionary scientists will close the conference with their views on the future of personalised genomic medicine.

15h – 15h25: Our Genome in 2010
15h25 – 15h50: Genomic Information Translated to Health Care
15h50 – 16h15: Translational Genomics Information in Research
16h15 – 16h45: Coffee break
16h45 – 17h10: Sequencing All Human Genomes
17h10 – 17h35: My Genome in 2020
17h35 – 18h00: Closing session

Facilitator to conclude on the 2-day conference outcome.

19h30-21h30: Faculty dinner

Provisional List of Speakers

This will be available shortly.

Venue

The conference will take place at the Centre for Genomics Regulation (CRG), Barcelona Biomedical Research Park (PRBB), C/ Dr. Aiguader, 88, 08003 Barcelona

Registration

Registration is open here until 15 September 2010.

 



 

_______________________________________________________________________________

 

______________________________________________________________________________