10 October 2008

IV Biologie Prospective Conference "Functional Genomics for Personalized Medicine"

The Biologie Prospective Conference takes place every two years in Fira on Santorini Island, Greece.

The next IV Conference was held on September 21-23, 2008,

"Functional genomics for personalized medicine".

The scientific program of the conference included:
– 11 sections with 37 invited speakers and 14 presentations
– 73 poster reports
– 4 workshops
– 1 round table with a presentation of 4 international scientific programs

The conference was attended by representatives of 34 countries, including 8 Russian scientists from Russia (from Moscow, St. Petersburg, Tomsk).

I would like to note that the number of participants at the conference increased compared to the previous ones (more than 100 people), such well-known specialists in predictive medicine as W. began to give plenary lectures.Ouwehand from Oxford, D.Meyre from the Pasteur Institute in Lille and S.Humphries from the Center for Cardiovascular Genetics from London.

The venue of the conference deserves special attention. Santorini Island is a kind of unique historical and geological object. More than 3.5 thousand years ago, a volcanic eruption occurred here, and the relief of the island was greatly changed. Many historians suggest that it was this catastrophe that served as the basis for the legend of Atlantis. After that, there were more than 14 major eruptions, the last of which was in 1956. Today, the island is a unique historical object in the shape of a month, in the center of which is a dormant volcano.

A pleasant feature for me was the extraordinary openness and cordiality of the conference organizers and participants, which allowed us to establish informal and friendly communication. I would like to thank the organizing committee of the conference and the direct performers for the brilliant organization of the event.

Of the plenary reports at the conference, the following seemed to me the most interesting:

Genome-wide association meets systems biology; discovery of genes implicated in myocardial infarction
(W.Ouwehand, University of Cambridge and NHS Blood and Transplant, Wellcome Trust Sanger Institute, University of Leicester).

According to the speaker, today the number of human genes is estimated at about 22 thousand, exons – 270 thousand, the length of the coding region is about 3.2 million base pairs.

Since 2007, the so–called large-scale study of the human genome - genome-wide association studies (GWAS) has been organized. During the work, its participants managed to collect 14,000 DNA samples, including patients with seven major diseases (cardiovascular pathology, type 2 diabetes mellitus, hypertension, type 1 diabetes mellitus, rheumatoid arthritis, etc.) and 3,000 control samples – DNA of healthy people. The age of the cohort is 18-69 years. All studies were conducted on Affymetrix GeneChip (500,000 single nucleotide polymorphisms, SNPs). The authors found 24 new genetic markers associated with cardiovascular diseases.

The main results of the work can be found in the article Burton PR et al. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Nature 2007; 447:661-78). Details can be found on the website http://www.bloodomics.org /.

What did bring phase 1 and 2 Wide Genome Association’s in type 2 diabetes and obesity: a global overview
(D Meyre, Institut Pasteur, Lille, France).

The report provided impressive statistics: it turns out that in the United States, 12% of all health care costs are accounted for by type 2 diabetes mellitus (DM2). Moreover, the contribution of heredity to this disease is estimated from 30 to 70% (Doria et al., Cell Metab, 2008). Therefore, the relevance of studying the genetics of DM2 is beyond doubt.

The author "modestly" divides all works in this field into 2 stages: before their research and after. In their work, they use 2 Illumina biochips per 100K 317K, which "cover" 365,000 SNPs in the human genome.

During the study, the authors were able to identify the main gene for DM2 – TCF7L2 (TCF4). This gene encodes the beta-catenin nuclear receptor, which, in turn, determines the level of insulin expression and affects the response during therapy with sulfamide drugs.

A strong association of rs9939609 polymorphism in 1 intron of the FTO gene with obesity in children was also revealed. The authors claim that they have found the same obesity gene! In addition, their work also revealed a number of genes whose polymorphism was associated with DM2. Moreover, a joint effect of the influence of genes on the risk of developing DM2 has been established.

Use of candidate gene SNPs in combination to present an individual with risk stratification information: moving from population data to the personal consultation(Steve Humphries, Centre for Cardiovascular Genetics, Department of Medicine, University College London).

The author reported that to date they have managed to identify 17 SNPs associated with cardiovascular diseases that they can offer for genetic testing, and they have added 7 more to the 10 previously identified genes (Talmud et al, ClinChem, 2008). At the end of the report, summing up the data obtained, the master of cardiogenetics concluded that, in their opinion, the main polymorphisms – markers of cardiovascular diseases - are polymorphisms rs10757274 A>G and rs2383206 A>G in the CDNK2A gene.

It is important to emphasize that all the studies, the results of which made a strong impression, were carried out by large groups of laboratories and research centers. This suggests that in Europe, unlike in Russia, scientific organizations easily cooperate, greatly increasing the level of research work performed.

A round table was held separately, where the following speech was the most interesting:

Update on the Innovative Medicines Initiative (IMI)
(K Boubekeur, F. Hoffmann-La Roche Ltd, Basel, Switzerland)

After four years of consultations and negotiations, the European Commission (EC) and the European Federation of Pharmaceutical Industries and Associations (EFPIA) launched an innovative medical project (Medicines Initiative Joint Undertaking, IMI JU) in February 2008. The budget of this project was 2 billion euros. Half of this budget is planned to be received from the 7th Framework Program (7th Framework Program of the European Union) and half - from biopharmaceutical companies, EFPIA members. Basic information about the program is published on the IMI website (http://www.imi-europe.org /).

The Eternal Youth Foundation was represented at the conference by the author of the above article, who made a poster presentation "Analysis of gene polymorphisms by pharmacy biochip in newborn and elderly people from the North-West region of Russia".

Portal "Eternal youth" www.vechnayamolodost.ru10.10.2008

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