Paediatrician and independent clinical geneticist, at Clinica Sant'Anna, Sorengo and consultant at Medisyn, Switzerland
Specialist in paediatrics and specialist in medical genetics, FMH member
Consultant Medisyn Switzerland
Lecturer at the Faculty of Medicine USI Lugano
Medicentro Pediatrico
Villa Anna 2
Via Sant'Anna 7
6924 Sorengo
Paediatrician and independent clinical geneticist, at Clinica Sant'Anna, Sorengo and consultant at Medisyn, Switzerland
Accreditation at Swiss Medical Network
Lecturer at Università della Svizzera Italiana (USI)
Paediatrician and independent clinical geneticist, at Centro Medico, Stazione, Lugano
Head Physician, Head of Medical Genetics Service at Ospedale Italiano di Lugano (IOSI-OIL)
Chief Resident Physician and then Head of Service, Paediatrics Service (IPSI) San Giovanni Hospital, Bellinzona
FMH Title Medical Genetics
FMH Title in Paediatrics
BIBLIOGRAPHY (peer-reviewed scientific journals)
Hirsch factor: 10 (ISI; 8 June 2020)
- ORIGINAL ARTICLES (AND SYSTEMATIC REVIEWS)
- NARRATIVE REVIEWS
- LETTERS - CASE REPORT
Bronz G, Leoni-Foglia C, Lava SG, Simonetti GD, Ferrarini A. Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy. Clin Dysmorphol 2020;29:53-60.
Resident Assistant Physician, Medical Genetics Service, Necker-Enfants Malades Hospital (Paris, France); activities at the outpatient clinics specialising in dysmorphology, genetic skeletal diseases, neurogenetic and mitochondrial diseases; head Prof Dr. med. A. Münnich
Chief physician, Integrated Service Mendrisio and Bellinzona Hospitals (Switzerland); responsible Prof Dr. med. M. G. Bianchetti and Prof. Dr. med. G.P. Ramelli Chief Consultant Physician, Integrated Service Mendrisio and Bellinzona Hospitals (Switzerland); responsible for Prof Dr. med. M. G. Bianchetti and Prof. Dr. med. G.P. Ramelli.
Assistant physician, Paediatrics Service, CHUV-Lausanne (Switzerland); responsible Prof. Dr. med. S. Fanconi
Assistant physician, Medical Genetics Service, CHUV-Lausanne (Switzerland); responsible Prof. Dr. med. J. Beckmann.
Assistant physician, Integrated Paediatrics Service, Mendrisio and Bellinzona Hospitals (Switzerland); responsible Prof. Dr. med. M.G. Bianchetti and Prof. Dr. med. G.P. Ramelli
Fellow physician, Department of Paediatrics, Medical Genetics Service, University Paediatric Clinic "G. e D. De Marchi", Milan (Italy), responsible Dr. med. A. Selicorni
Medical fellow, Department of Paediatrics, Paediatric Oncology Service, University Paediatric Clinic "G. e D. De Marchi", Milan (Italy), responsible Prof. Dr. med. V. Carnelli
University of Milan (Italy), Faculty of Medicine.
Diploma of medical surgeon. Title of thesis: "Interferon therapy of angiomas in paediatric age".
SCHOLARSHIPS - SPONSORSHIPS
2003-2004: Scholarship contributed by associations of parents with children suffering from rare diseases (Cornelia de Lange National Voluntary Association; Italian Wolf-Hirschhorn Syndrome Association) for research and assistance activities.
2004: Scholarship contributed by the association AIDWEB.org-ONLUS, for collaboration in the creation of the AIDWEB website for rare diseases.
2013: Scholarship contributed by Telethon Suisse, for a clinical collaboration with the Medical Genetics Service of the Necker-Enfants Malades hospital (Paris, France).
1.11.2012: Creation of the Pediatric Rare Diseases Fund for diagnostic and research purposes in the field of rare children's diseases (subsidised by the Kiwanis Lugano Foundation for the first year of activity).
SUPERVISION OF MASTER'S THESES FOR OBTAINING A MEDICAL DEGREE
1. Ilaria Parenti (University of Milan, 2016)
2. Sabrina Mueller (University of Basel, 2017)
3. Giogia Pellanda (University of Basel, 2017)
4. Luca Jermini (University of Basel, 2018)
5. Gabriel Bronz (University of Bern, 2018)
REVIEWER ACTIVITIES FOR SCIENTIFIC JOURNALS
European Journal of Pediatrics - Human Genetics - The Journal of Pediatrics
PARTICIPATION IN INTERNATIONAL RESEARCH CONSORTIA
1. Consortium 16p11.2:
- 16p11.2 Locus modulates response to satiety before the onset of obestity. Int J Obes 2016 40:870-876.
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 2016; 22:836-849.
- Defining the effect of the 16p11.2 duplication on cognition, behaviour, and medical comorbidities. JAMA Psychiatry 2016; 73:20-30.
2. Consortium 15q11.2:
- Estimating the effect size of the 15q11.2 BP1-BP3 deletion and its contribution to neurodevelopmental symtoms: recommendation for practise. J Med Genet 2019;56:701-710.