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Table 1 Summary information concerning the agreements currently in place

From: The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Genetic Biobank Patient Organisation Disease Starting date Patient Registry/Clinical database No. of subjects
Cell line and DNA Biobank from patients affected by genetic diseases
(TNGB Coordinator)
Associazione Italiana Sindrome di Poland Poland S. (ORPHA2911) Feb 2014 Clinical database 238
LND Famiglie Italiane Lesch-Nyhan disease (ORPHA510) Oct 2014 Italian Patient Registry (in progress) 6
F.O.P. Italia Onlus Fibrodysplasia ossificans progressive (ORPHA337) Jan 2015 No 4
Galliera Genetic Bank (TNGB Partner 1) Ring 14 International Ring 14 S. and other chromosome 14 related diseases (ORPHA1440) Dec 2009 Clinical database 197
Associazione Nonsolo15 dup15q S. (ORPHA3306) Jul 2012 No 40
Associazione Mowat Wilson Mowat-Wilson S. (ORPHA2152) Jul 2012 No 27
Gruppo Famiglie Dravet Dravet S. (ORPHA33069) May 2013 Clinical database 56
ASSI Gulliver - Sindrome di Sotos Sotos S. (ORPHA821) Jul 2015 No 4
Cell lines and DNA Bank of Rett syndrome, X-linked mental retardation and other genetic diseases (TNGB Partner 3) Associazione Sindrome di Alport Alport S. (ORPHA63) Oct 2013 Italian Patient Registry 247
Associazione Italiana Rett Rett S. (ORPHA778) Nov 2013 Italian and European Patient Registry 95
ILA - Associazione italiana Angiodisplasie ed Emangiomi Infantili Vascular Malformations May 2014 No 24
Genomic and Genetic Disorders Biobank
(TNGB Partner 7)
Federazione Italiana Prader Willi Prader Willi S. (ORPHA739) Jul 2012 No 124
Cell line and DNA Bank of genetic movement disorders and mitochondrial diseases (TNGB Partner 9) AISNAF - Associazione Italiana Sindromi Neurodegenerative da Accumulo di Ferro Neurodegeneration with brain iron accumulation (ORPHA385) May 2015 No 72
  1. TNGB Telethon Network of Genetic Biobanks, S Syndrome