Model organisms and rare diseases
Research Area: Genetica e malattie rare
Group Leader
The main interest of our laboratory has been the development of models to study the genetic bases and the pathophysiology of inherited neurometabolic disorders.
Since the introduction of next generation sequencing technologies, interpretation of genomic variants, their validation and predictions of possible effects on gene products have acquired a crucial importance and become one of the most relevant challenges in human genetics. What we have been mostly interested in is the setting up of simple models that allow to validate novel variants identified in patients affected by rare genetic diseases, but also to establish genotype-phenotype correlations and to analyze the molecular pathogenesis of these conditions. At this purpose we have successfully employed S.cerevisiae to analyze missense mutations in genes affecting fundamental cellular processes or mammalian cells in order to test the effects of genomic variants on transcript maturation.
More recently, we have moved to multicellular models, including Caenorhabditis elegans and Zebrafish. These organisms represent simple highly prolific organisms with a rapid life cycle that display organized tissues and organs and allow to study the effects of novel variants on nervous system development.
Our interest is now moving to cancer genetics, and particularly on the study of the mechanisms driving pediatric cancers associated with a genetic predisposition. We are employing the same organisms to model germline mutations in oncosuppressors/oncogenes identified in rare tumor predisposing syndromes in order to deeply analyze cancerogenesis and to set up simple models for drug screening.
Post-doctoral Fellows
- Cerqua Cristina
PhD Students
- Morbidoni Valeria
Selected Publications
Alcázar-Fabra M, Trevisson E, Brea-Calvo G.. 2018. Clinical syndromes associated with Coenzyme Q10 deficiency. Essays Biochem, 62(3):377-398Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludkig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP. 2018. Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3. Am J Hum Genet, 102(6):1115-1125
Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F. 2018. Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma. Eur J Hum Genet, 26(7):1026-1037
Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E.. 2018. COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. Biochim Biophys Acta, 1859(4):244-252
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. 2018. Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. Am J Hum Genet, 102(1):69-87
Contatti
Corso Stati Uniti, 4
35127 Padova
Phone: +39 049 9640139
Fax: +39 049 9640101
info@irpcds.org
