1997 MINUTES

Platelet Physiology SUBCOMMITTEE

Friday, 6 June, 1997, 13:00-17:00
Boticelli, Fortezza da Basso
Florence, Italy

Chair: J.L. McGregor, France
Co-Chairs: E. Angles-Cano, France; M. Berndt, Australia; C. Cerletti, Italy;
K. Clemetson, Switzerland; P. Newman, USA; G.C. White, USA

The platelet physiology subcommittee meeting in Florence was divided into three major parts. The two first parts ran for approximately two hours and the last part for one hour and 30 minutes. The number of people attending this subcommittee meeting was estimated to be 200.

Part I. Bioinformatics: Internet genomic registry of platelet congenital disorders (Co-Chair: J.L. McGregor, France).

The first speaker, Deborah French (USA) (dfrench@smtplink.mssm.edu), introduced the role of GPIIb/IIIa in platelet functions and the phenotyping of patients suffering from such a disorder. She did an excellent survey in putting together a registry (http://scripps.edu/bcmd) on point mutations, deletions and other defects, identified on Glanzmann thrombasthenic patients (21 individuals with GPIIb and 19 with GPIIIa defects) by their laboratory and workers in the field. She indicated the relevance of such work in prenatal diagnosis (countries where this was performed) and carrier detection. The second speaker, Alan Nurden (France), gave a very good review on the foundations that are necessary for setting up a strong registry on platelet genetic disorders. Points of importance raised by Dr. Nurden include: (1) What should go in the registry (clinical, biochemical and molecular information)? (2) Authenticity (reviewing the experimental data before insertion in the registry?) (3) Priority (what will be the attitude of journals toward the part of manuscripts made public via the Internet?) (4) New reports of previously encountered mutations, deletions, inserts, potential hotspots, etc. (5) How should the data be organized? Previous nomenclature, while useful, is outdated. (6) Who runs the database? Mount Sinai could be one of the centers with Dr. French being the database manager responsible for reviewing data and submissions. The third speaker, Kenneth Clemetson (Switzerland), gave a brief update on the possibility of setting up a registry for patients in France, Germany, Switzerland, Finland, the UK, etc., with the Bernard Soulier syndrome. He was followed by Dr. Satu Kaski (Prof. Kekomaki's laboratory, Finland) who presented data (three distinct types of mutation or deletion) on the Finnish Bernard Soulier (15 families, 22 patients in a population of five million). The fourth speaker, Dr. Dermot Kenny, presented a survey of Bernard Soulier syndrome in the Midwest region of the USA. The fifth speaker, Dr. Kenjiro Tanoue, (Japan), presented a survey of the Bernard Soulier population in Japan.

Part II. Characterization and standardization of the giant platelet syndromes (Co-Chair: Gilbert White, USA).

An attempt was made by the three speakers (Andreas Greinacher, Jim White and Paquita Nurden), after an introduction by the co-chair, to look at different giant platelet abnormalities (e.g., May-Hegglin, Fechtner syndrome, Mediterranean macrothrombocytopenia, Gray platelet syndrome, Medich inclusion disorder, Gainsville giant platelet disorder, Alport's syndrome, Montreal platelet syndrome, Chediak-Higashi syndrome) that can come under the classification of giant platelet syndrome. The co-chair stressed, in complete agreement with the speakers, that this is an area that requires further research in molecular medicine. Phenotypes of these patients should also be made available on the Internet to allow centers to have information on these anomalies.

Part III. Standardization in signal transduction measurements in platelets and quality control (Co-Chair: Kenneth Clemetson, Switzerland).

The first speaker, Koneti Rao (USA), gave an extensive review on platelet secretion disorders. He pointed out that many platelet secretion disorders were lumped together more out of convenience than on the basis of the mechanisms underlying the dysfunction. The second speaker, Gerard Mauco (France), presented the technical basis for inositol lipid metabolism. The third speaker, Jan Akkerman (Holland), gave an excellent review on quality control of platelet functional defects.

It will be suggested to the co-chairs of the three parts of this platelet physiology subcommittee to present a report, in view of the importance of the treated subjects, for publication (following acceptance by the publication review committee) in Thrombosis and Haemostasis.

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