RESEARCH ON LND IN ITALY.


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Sub-atomic premise of hypoxanthine - guanine Phosphoribosyltransferase lack in Italian Lesch-Nyhan patients: Identification of eight new transformations ...
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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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Association for Rare Diseases MAURO BASCHIROTTO The Association was established by Anna and Giuseppe Baschirotto in 1989, to recollect the agony continued by their adored child Mauro, who kicked the bucket at the age of sixteen, two years prior.

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Association for Rare Diseases MAURO BASCHIROTTO Purposes: Epidemiological studies. Meeting and help administration for patients and their families. The arrangement of teams for particular illnesses, as Metachromatic Leucodystrophia, Lesch-Nyhan Disease, Spinal Muscular Dystrophy and APECED. Beginning up an Institute for Scientific Biomedical Research into uncommon diseaseas at Costozza di Longare (Vicenza).

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First step: shaping the gathering of families How to discover them? What number of families in Italy? Television and radio projects, daily papers, magazines,…

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Second step: spreading data Since the Association comprehended the significance of trading data and of correspondence, the story "An (Im)Possible Life" was distributed as method for arousing popular conclusion and as a wellspring of gathering pledges

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Third step: supporting exploration 1997 Prof. Giacomello and Prof. Micheli\'s examination 1999 Dr De Gregorio\'s work at La Jolla

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Baschirotto Institute for Rare Diseases (B.I.R.D) Research and clinical utilization of new medicines Advanced Genetic/Molecular Diagnoses Research and clinical use of new rehabilitative systems

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Baschirotto Institute for Rare Diseases (B.I.R.D) Information and help administrations for patients experiencing an uncommon infection Organization of gatherings, stages and preparing Development and administration of a bank of natural materials

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Baschirotto Institute for Rare Diseases (B.I.R.D) Meetings with patients, families, clinicians and scientists About 600 m 2 are utilized for atomic, hereditary and cytogenetic labs

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Diagnoses at BIRD\'s labs MOLECULAR DIAGNOSIS for: • Achondroplasia • Adrenoleukodystrophy • APECED disorder • Autosomal Dominant Spinocerebellar Ataxia sort 1 (SCA 1) • Autosomal Dominant Spinocerebellar Ataxia sort 2 (SCA 2) • Autosomal Dominant Spinocerebellar Ataxia sort 3 (SCA 3) • Autosomal Dominant Spinocerebellar Ataxia sort 6 (SCA 6) • Autosomal Dominant Spinocerebellar Ataxia sort 7 (SCA 7) • Autosomal Dominant Spinocerebellar Ataxia sort 8 (SCA 8) • Autosomal Dominant Spinocerebellar Ataxia sort 17 (SCA17) • BRCA1, BRCA2 • Fragile X disorder • Friedreich\'s Ataxia • Groenuow\'s Corneal Dystrophy (BIGH3 quality) • Hereditary Haemochromatosis

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

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

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Research and families bolster Exchange of encounters increment research! TOGETHER WE SHALL WIN...!!

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Poster exhibited at the 2001 European Human Genetics Conference in Vienna. Sub-atomic premise of hypoxanthine - guani ne Ph osphoribosyltransferase lack in Italian Lesch-Nyhan patients: Identification of eight new changes 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 of San Diego, La Jolla, CA USA

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Molecular premise of hypoxanthine-guanine phosphoribosiltransferase lack in Italian Lesch-Nyhan patients: Identification of nine novel changes ( 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.Bertelli 1 , D.Randi 1 , V. Micheli 2 , S.Gallo 1 , G.Andrighetto 1 , P. Parmigiani 1 , G.Jacomelli 2 , M. Carella 1-3 , C. Lievore 1 and M. Pandolfo 4

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Poster displayed at Verona at 6 th SIGU Congress in 2003 Presentation of an Italian case report of Lesch-Nyhan Syndrome with the aftereffects of a clinical, biochemical and hereditary study and a pharmacological trial M. Bertelli 1 , D. Randi 1 , A. Salviati 3 , V. Micheli 2 , S. Gallo 1 , M. Carella 1,4 , C. Lievore 1 , P. Parmigiani 1 , G. Andrighetto 1 , M. Pandolfo 1,5 . 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. Administration Neurologie, Universite Libre de Bruxelles, Hopital Erasme, 1070 Bruxelles, Belgium.

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Real Time PCR and linkage-study for finding of Lesch-Nyhan Syndrome bearers displaying cancellations in HPRT quality Real Time PCR for LNS transporter analysis Cristina Lapucci a , Diego Pomarè Montin a , Massimo Pandolfo d and Matteo Bertelli an Institute BIRD Europe, Vicenza, Italy d Department of Neurology, Erasme Hospital, Brussels Free University, Brussels accettato dalla rivista Molecular Medicine

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A Real-Time PCR Approach to Evaluate Adipogenic Potential of 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 FABBRI 1 BIRD Europe Institute, Vicenza, Italy. 2 Endocrine-Metabolic Laboratory, Department of Medical and Surgical Sciences,Biotechnology Center, University of Padova,Italy. 3 Department of Neurology, Erasme Hospital, Brussels Free University, Brussels, Belgium. Undifferentiated organisms AND DEVELOPMENT 15:719–728 (2006) © Mary Ann Liebert, Inc.

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Study of the adenosinergic framework in the cerebrum of HPRT knockout mouse (Lesch–Nyhan ailment) Matteo Bertelli a , Stefano Cecchin a , Cristina Lapucci a , Gabriella Jacomelli d , Hyder A. Jinnah b , Massimo Pandolfo a , c and Vanna Micheli d aLaboratorio di Genetica Medica, Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus, 36023 Costozza, Vicenza, Italy bDepartment of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA cService de Neurologie, Université Libre de Bruxelles, Hôpital Erasme, Bruxelles, Belgium dDipartimento di Biologia Molecolare, Università di Siena, Siena, Italy Received 9 February 2006;  changed 9 May 2006;  overhauled 9 May 2006.  Available online 17 May 2006. ,

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B.I.R.D., Europe Foundation onlus Via B.Bizio, 1 - 36023 Costozza (Vi) Tel. - Fax +39 0444 555557 – 555034 www.birdfoundation.org email: info@birdfoundation.org laboratorio@birdfoundation.org

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Gruppo Lesch-Nyhan (dell\'Associazione Malattie Rare "Mauro Baschirotto") Via Giovanetti,15-20 16149 GENOVA famlnd@webst.it http://www.lesch-nyhan.eu

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