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 |