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RESEARCH ON LND IN ITALY

RESEARCH ON LND IN ITALY. RESEARCH ON LND IN ITALY. Associazione Malattie Rare   "Mauro Baschirotto" Costozza - Vicenza - Italy  Tel. Fax. +390444555557. Associazione Malattie Rare   "Mauro Baschirotto" Costozza - Vicenza - Italy  Tel. Fax. +390444555557.

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RESEARCH ON LND IN ITALY

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  1. RESEARCH ON LND IN ITALY RESEARCH ON LND IN ITALY Associazione Malattie Rare  "Mauro Baschirotto"Costozza - Vicenza - Italy Tel. Fax. +390444555557 Associazione Malattie Rare  "Mauro Baschirotto"Costozza - Vicenza - Italy Tel. Fax. +390444555557

  2. Association for Rare DiseasesMAURO BASCHIROTTO • The Association was founded by Anna and Giuseppe Baschirotto in 1989, to remember the suffering endured by their beloved son Mauro, who died at the age of sixteen, two years earlier.

  3. Association for Rare DiseasesMAURO BASCHIROTTOPurposes: • Epidemiological studies. • Consultation and assistance service for patients and their families. • The formation of task-forces for specific diseases, like Metachromatic Leucodystrophia, Lesch-Nyhan Disease, Spinal Muscular Dystrophy and APECED. • Starting up an Institute for Scientific Biomedical Research into rare diseaseas at Costozza di Longare (Vicenza).

  4. First step: forming the group of families • How to find them? • How many families in Italy? • TV and radio programmes, newspapers, magazines,…

  5. Second step: spreading information Since the Association understood the importance of exchanging information and of communication, the tale “An (Im)Possible Life” was published as means of awakening public opinion and as a source of fund-raising

  6. Third step: supporting research 1997 Prof. Giacomello and Prof. Micheli’s research 1999 Dr De Gregorio’s work at La Jolla

  7. Baschirotto Institute for Rare Diseases (B.I.R.D) • Research and clinical application of new treatments • Advanced Genetic/Molecular Diagnoses • Research and clinical application of new rehabilitative techniques

  8. Baschirotto Institute for Rare Diseases (B.I.R.D) • Information and assistance services for patients suffering from a rare disease • Organisation of meetings, stages and training • Development and management of a bank of biological materials

  9. Baschirotto Institute for Rare Diseases (B.I.R.D) • Meetings with patients, families, clinicians and researchers • About 600 m2 are used for molecular, genetic and cytogenetic laboratories

  10. Diagnoses at BIRD’s labs MOLECULAR DIAGNOSIS for: • Achondroplasia• Adrenoleukodystrophy• APECED syndrome • Autosomal Dominant Spinocerebellar Ataxia type 1 (SCA 1)• Autosomal Dominant Spinocerebellar Ataxia type 2 (SCA 2) • Autosomal Dominant Spinocerebellar Ataxia type 3 (SCA 3)• Autosomal Dominant Spinocerebellar Ataxia type 6 (SCA 6)• Autosomal Dominant Spinocerebellar Ataxia type 7 (SCA 7)• Autosomal Dominant Spinocerebellar Ataxia type 8 (SCA 8)• Autosomal Dominant Spinocerebellar Ataxia type 17 (SCA17)• BRCA1, BRCA2• Fragile X syndrome • Friedreich’s Ataxia• Groenuow’s Corneal Dystrophy (BIGH3 gene)• Hereditary Haemochromatosis

  11. Diagnoses at BIRD’s labs • Hereditary non-syndromic deafness • Huntington Disease • Ipochondroplasia• Lesch-Nyhan syndrome• Malignant Hyperthermia • Metachromatic Leukodystrophy• Mitochondrial Diseases (MELAS,MERRF, NARP, LEBER)• Onco-haematology• Prader Willy – Angelman syndrome • Rett syndrome • Spinal Muscular Atrophy (SMA) CYTOGENETICS Onco-haematology Prenatal Diagnosis Postnatal Diagnosis

  12. Meetings with Lesch-Nyhan families • Annual meetings in Costozza • The French Lesch-Nyhan Action • British families at PUMPA Seminar • Visit to La Paz Hospital in Madrid

  13. Research and families support • Exchange of experiences increase research! • TOGETHER WE SHALL WIN...!!

  14. Poster presented at the 2001 European Human Genetics Conference in Vienna. Molecular basis of hypoxanthine - guanine Phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of eight new mutations C. Lievore1, L. De Gregorio3, W.L. Nyhan3, M. Carella1,2 1 Department of Medical Genetics, Baschirotto Institute for Rare Diseases (BIRD EUROPE onlus): Costozza di Longare (VI), Italy; 2 Tigem (Telethon Institute of Genetics and Medicine), Naples, Italy; 3 Department of Pediatrics and Institute for Molecular Genetics, University ofSan Diego, La Jolla, CA USA

  15. Molecular basis of hypoxanthine-guanine phosphoribosiltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations (1) Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus, Costozza, Vicenza, Italy (2) Dipartimento di Biologia Molecolare, Università di Siena, Siena, Italy (3) Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale 'Casa Sollievo Sofferenza, San Giovanni Rotondo, Italy (4) Service de Neurologie, Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium M.Bertelli1, D.Randi1, V. Micheli2, S.Gallo1, G.Andrighetto1, P. Parmigiani1, G.Jacomelli2, M. Carella1-3, C. Lievore1 and M. Pandolfo4

  16. Poster presented at Verona at 6th SIGU Congress in 2003 Presentation of an Italian case report of Lesch-Nyhan Syndrome with the results of a clinical, biochemical and genetic study and a pharmacological trial M. Bertelli1, D. Randi1, A. Salviati3, V. Micheli2, S. Gallo1, M. Carella 1,4, C. Lievore 1, P. Parmigiani1, G. Andrighetto1, M. Pandolfo1,5. 1. Istituto Malattie Rare Mauro Baschirotto BIRD Foundation onlus, 36023 Costozza, Vicenza Italy; 2 Dipartimento di Biologia Molecolare, Università di Siena, Italy;3.Dipartimento di Scienze neurologiche e della Visione, Universita di Verona, Strada Le Grazie 8, 37134, Verona, Italy; 4. Servizio Genetica Medica, Istituto di Ricovero e Cura a Carattere Scientifico-Ospedale "Casa Sollievo Sofferenza," I-71013 San Giovanni Rotondo, Italy; 5.Service Neurologie, Universite Libre de Bruxelles, Hopital Erasme, 1070 Bruxelles, Belgium.

  17. Real Time PCR and linkage-study for diagnosis of Lesch-Nyhan Syndrome carriers presentingdeletions in HPRT geneReal Time PCR for LNS carrier diagnosisCristina Lapuccia, Diego Pomarè Montina, Massimo Pandolfod and Matteo BertelliaaInstitute BIRD Europe, Vicenza, ItalydDepartment of Neurology, Erasme Hospital, Brussels Free University, Brusselsaccettato dalla rivista Molecular Medicine

  18. A Real-Time PCR Approach to Evaluate Adipogenic Potentialof Amniotic Fluid-Derived Human Mesenchymal Stem Cells Original Research Report PAOLA DE GEMMIS,1 CRISTINA LAPUCCI,1 MATTEO BERTELLI,1 ANNA TOGNETTO,1 ERIKA FANIN,1 ROBERTO VETTOR,2 CLAUDIO PAGANO,2 MASSIMO PANDOLFO,1,3 and ANDREA FABBRI1 1BIRD Europe Institute, Vicenza, Italy. 2Endocrine-Metabolic Laboratory, Department of Medical and Surgical Sciences,Biotechnology Centre, University of Padova,Italy. 3Department of Neurology, Erasme Hospital, Brussels Free University, Brussels, Belgium. STEM CELLS AND DEVELOPMENT 15:719–728 (2006) © Mary Ann Liebert, Inc.

  19. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch–Nyhan disease) Matteo Bertellia, , Stefano Cecchina, Cristina Lapuccia, Gabriella Jacomellid, Hyder A. Jinnahb, Massimo Pandolfoa, c and Vanna Michelid aLaboratorio di Genetica Medica, Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus, 36023 Costozza, Vicenza, ItalybDepartment of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USAcService de Neurologie, Université Libre de Bruxelles, Hôpital Erasme, Bruxelles, BelgiumdDipartimento di Biologia Molecolare, Università di Siena, Siena, Italy Received 9 February 2006;  revised 9 May 2006;  revised 9 May 2006.  Available online 17 May 2006. ,

  20. B.I.R.D., Europe Foundation onlusVia B.Bizio, 1 - 36023 Costozza (Vi)Tel. - Fax +39 0444 555557 – 555034 www.birdfoundation.org e-mail: info@birdfoundation.orglaboratorio@birdfoundation.org

  21. Gruppo Lesch-Nyhan (dell'Associazione Malattie Rare "Mauro Baschirotto")Via Giovanetti,15-2016149 GENOVAfamlnd@webst.ithttp://www.lesch-nyhan.eu

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