Update from Italy

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  mrvavass | Conferences, General Information | published 3 months ago | Originally written in English Update from Italy

  Dear all,

  With the new year well underway, I would like to briefly update you on the latest news about genetic research, mainly as developed after the International Workshop on Alternating Hemiplegia, held in Genoa on 11 November 2011.
  As you may recall, in parallel to the Workshop, together with the French association AFHA we organized a Meeting of the European genetic groups that are currently engaged in research on AHC.

  The meeting was attended by Professors Giovanni Neri and Fiorella Gurrieri (Institute of Medical Genetics, Policlinico Gemelli - Catholic University of Rome), Dr Maria Teresa Bassi (Scientific Institute E. Medea – Bosisio Parini, Manager of the I.B.AHC Biobank), Dr. Arn van den Maagdenberg and his collaborator Boukje de Vries (Leiden University Medical Center, the Netherlands), Dr. Sophie Nicole – INSERM Laboratories in Paris, Dr. Michael Rotstein (Pediatric Movement Disorders, The Pediatric Neurology Unit and Child Development Center, Tel Aviv Sourasky Medical Center) and Drs Loddo and Valentini of the CSS-Mendel Institute in Rome.
  Thanks to this meeting, a cooperation agreement was obtained between the participating genetic groups, then refined through following contacts, for the establishment of a European consortium for genetic research on Alternating Hemiplegia and specifically, for the realization of a collaborative exome-study in the European patients.
  
  On the Italian side, the exome study, started by Professors Neri and Gurrieri since March 2011 and whose preliminary results were presented at the International Workshop (exome sequencing in the DNA of a first group of six patients selected from the I.B.AHC Biobank, with the funding of A.I.S.EA) continues positively.
  The second phase of the study is currently going on, with the use of additional material from the I.B.AHC Biobank (of the same six patients and of their parents) and the funding of the French AFHA, obtained also thanks to the collaboration agreement just mentioned here above.
  
  On behalf of Professor Neri and Professor Gurrieri, I am also pleased to announce that a new research project, as a continuation of this study, was presented by them to the last Call for projects of the Italian Telethon, whose deadline for the projects submission was on 12 January.
  In addition to A.I.S.EA, also AFHA is among the external collaborators of this project, and the French association has also granted its availability to provide the samples, upon request, of the French Biobank for AHC.

  About the International Workshop in Genoa, in the documentation area of the I.B.AHC public website www.ibahc.org/index-eng.html (access by registration and login in the menu "Other Information") all the given presentations and a preliminary report are available. As soon as possible, we will upload also the video-recordings of all the given speeches, both in the original language and translated.
  Other articles about the Workshop can be found on our blog at this link: blog.aisea.org/articolo.asp?articolo=92
  
  Many thanks to you all for your attention and collaboration, and best regards.

  Rosaria Vavassori
  One reply to the topic — see all replies

  • 
    marcus published 3 months ago | Originally written in German

    Hi Rosaria,

    Many, many thanks for the great workshop and for the long-awaited materials. Now we are waiting for the publication of the lectures on video.

    Best wishes to all who were engaged in organizing and editing, and still are.

    marcus

    02/09/2012

    Notice: This text content has been translated automatically by a third-party service.