University of Ferrara, Department of Medical Sciences, Ferrara, Italy
- Associate Professor in Medical Genetics MED/03, Università di Ferrara 2007-present
- Head of the Medical Genetics Unit, University Hospital St. Anna Ferrara 2007-present
University College London, London, UK
- Honorary Visiting Professor, University College London, Institute of Child Health 2015-present
Education summary
PhD genetics, Imperial College School of Medicine, London (UK) 2002
Medical Genetics Specialization, University of Ferrara (Italy), 50/50 cum laude 1993
Neurology Specialization, University of Bologna (Italy), 70/70 cum laude 1988
Degree in Medicine and Surgery University of Bologna (Italy), 110/110 cum laude 1983
Career summary
Clinical activities.
As Professor in Medical Genetics, since 2007, I lead the Medical Genetics Unit, which represents an excellence centre in Italy and abroad for counselling and lab testing for hundreds of genetic disorders. Thanks to these activities, my Unit is the Health Care Provider within three European Reference Networks, Euro-NMD (where I am member of the Executive Committee and Chair of the Genetic task), ITHACA (intellectual disabilities), and EuroBloodNet (rare anaemias). I was PI of clinical trials for Duchenne muscular dystrophy based on antisense oligonucleotide-exon skipping therapies (sponsored by Prosensa, Biomarin, Glaxo, and Sarepta).
Research activities.
Research in a European and international dimension is my preferred activity. I coordinate(d) three EU funded projects FINGER, BIO-NMD (both with focus on neuromuscular diseases), and Screen4Care (genomic newborn screening and digital tools for rare diseases), and participated as PI in other five EU grants (NMD-CHIP, Neuromics, SOLVE-RD, SIGN, BIND, all focused on neuromuscular diseases as well), in two Cost Actions (ExonSkipping and Dynalife, this last dedicated to mathematical models applied to genome biology). I acted as Chair of the Biomarker Working Group for IRDiRC, (www.irdirc.org) from 2012 to 2015 I enjoyed being member of the ENMC scientific committee (2012-2015), I have been a member of several Ethical Committees, and I am now member of the Executive Committee of ICoNS (International Consortium of Newborn sequencing, coordinated by USA).
What is the personal or professional achievement you’re most proud of?
I love research and research networking, being involved in multidisciplinary groups and priming and participating to innovative scientific approaches. Having led and been involved in many European and international, high-profile, research projects makes me very proud. I believe that working and brainstorming with other scientists is the key to learning how to pursue innovative science, and to pave the way for new research frontiers, which may open pioneering research fields by bringing together different disciplines. I also love the fact that during these activities and through research projects, I contributed to training young researchers, and I enjoy seeing them now successfully working in an international context. Therefore, I am proud of my capacity to prime innovative research and to have worked together with brilliant scientists and other stakeholders, as companies and patients’ associations, contributing to increasing the critical mass of our neuromuscular community.
Why did you first join the WMS?
During my training and PhD in London (1996-2000) I was fascinated by the neuromuscular field and people. Being both a neurologist (by chance) and a medical geneticist (by choice) has influenced my attraction for neuromuscular hereditary diseases, and then I joined with enthusiasm (and pregnant!) the first WMS meeting in London in 1996 and the Society. Although not participating in all WMS congresses, I attended many of them, following Prof Victor Dubowitz's triple E society tenets: education, enjoyment, and excitement.
What is your goal in joining the Executive Board?
I hope my love for research and networking capacity can be fruitful for the WMS, to facilitate scientific dialogue among different medical and non-medical disciplines, to expand knowledge and implement research about the “neuromuscular genome” and beyond. I wish to facilitate cross-cutting activities with other research fields, to exploit the outstanding knowledge the neuromuscular community has generated in recent years. I also wish to explore how translational research outputs might feed fundamental research (bedside to bench), in a "triple E" backed view.
