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Laboratorio di ricerca

Lab. nameMiogenlab 
Principal Investigator Rossella Ginevra Tupler 
ComponentsRossella Ginevra Tupler  (Principal Investigator )
DescriptionProf. Tupler Laboratory is devoted to research on neuromuscular diseases. The laboratory examined over 2130 myopathic unrelated patients and 633 families for a total of 4248 subjects. Prof. Tupler established the Italian National Registry for Facioscapuloumeral muscular dystrophy. The laboratory runs three major reseach lines: 1- genotype phenotype correlation studies to define which other factors contribute to the development of FSHD; 2- functional and molecular analysis of mouse models for muscular dystrophy; 3- analysis of chromatin structure in patients affected by FSHD. Through diverse approaches Prof. Tupler plans to: 1) investigate novel causes for the appearance of FSHD disease; 2) provide critical information for prognosis and genetic counseling of people affected with FSHD; 3) generate tools for the development of therapeutic or preventive strategies. The laboratory provides molecular diagnosis, genetic analysis and genetic counseling for patients and families with facioscapulohumeral muscular dystrophy (FSHD). The laboratory coordinates the Italian Nation Registry for FSHD. The laboratory holds more than 3500 DNAs and over 2000 cell lines from patients, relatives and controls. 
Addressvia Giuseppe Campi, 287 - 41125 Modena 
Keywordsneuromuscular diseases, epigenetics, patient registry, medical genetics, rare disease animal models 
ERC Sectors 
InstrumentationThe laboratory is well equipped with both small (e.g., equipment for protein and nucleic acid gel electrophoresis, PCR machines, vortexes, microcentrifuges, etc.) and large equipment items (e.g., a Fuji phosphorimager with software for quantitative analysis; and a BioRad real-time PCR machine with accompanying data acquisition and analysis software). The lab also possesses other routinely used laboratory equipment such as medium- and low-speed centrifuges, incubators, shakers, speed vacuums, balances, pH and conductivity meters, a Beckman liquid scintillation counter, and a spectrophotometer.  
Research Lines Translational Medicine

Methodologies Molecular Genetics, Molecular Biology, Cell Biology, Animal models