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Azienda Ospedaliero-Universitaria di Ferrara

Medical Genetics Unit

DMD International Project

Logo Ptc Therapeutic

A partnership has been instituted between the PTC THERAPEUTICS INTERNATIONAL LIMITED and the Medical Genetics Unit at the University Hospital of Ferrara with the aim to provide the molecular genetic characterization of DMD/BMD/distrophinopatic patients across Europe. This goal is of particular relevance in light of the availability of new therapies in dystrophinopathies and the consequent need to select patients with the correct genotype definition and therefore potential highest response to the trial/treatment.  Genetic testing will be performed at the Medical Genetics Unit, by NGS as well as standard technologies, allowing the detection of the full spectrum of DMD gene mutations and will be financially supported by PTC.

For more details REGARDING THE PROJECT, please read the PDF documents:


Clinicians willing to adhere to the project are invited to contact:

Project-related documents/forms:

creato da Eugenio Bizzarri pubblicato il 07/06/2016 10:35, ultima modifica 20/02/2019 10:50

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Prof.ssa Alessandra Ferlini (CV)


Dr. Gualandi Francesca Vice Direttore U.O. (Incarico in Genetica) (CV)

Dr. Bigoni Stefania (medico) (CV)

Dr. Fortunato Fernanda (medico)

Dr. Neri Marcella (medico) (CV)


Dr. Balboni Alessandra (CV) 

Dr. Bonfatti Alessandra (CV) 

Dr. Buldrini Barbara (CV) 

Dr. Cavarretta Giusy

Dr. De Feo Gaetano

Dr. Fabris Marina

Dr. Gruppioni Rita  (CV) 

Dr. Maniscalchi Eugenia Tiziana

Dr. Rimessi Paola (CV) 

Dr. Selvatici Rita (CV) 

Dr. Trabanelli Cecilia (CV) 

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