Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2012

Open Access 01-12-2012 | Letter to the Editor

The empowerment of translational research: lessons from laminopathies

Authors: Sara Benedetti, Pia Bernasconi, Enrico Bertini, Elena Biagini, Giuseppe Boriani, Cristina Capanni, Nicola Carboni, Giovanna Cenacchi, Marta Columbaro, Monica D'Adamo, Adele D’Amico, Maria Rosaria D’Apice, Marianna Fontana, Alessandra Gambineri, Giovanna Lattanzi, Rocco Liguori, Nadir M Maraldi, Laura Mazzanti, Eugenio Mercuri, Tiziana Mongini, Lucia O Morandi, Iria Neri, Giovanni Nigro, Giuseppe Novelli, Michela Ortolani, Renato Pasquali, Antonella Pini, Stefania Petrini, Luisa Politano, Stefano Previtali, Lisa Pucci, Claudio Rapezzi, Giulia Ricci, Carmelo Rodolico, Paolo Sbraccia, Emanuela Scarano, Gabriele Siciliano, Stefano Squarzoni, Antonio Toscano, Liliana Vercelli, Matteo Ziacchi

Published in: Orphanet Journal of Rare Diseases | Issue 1/2012

Login to get access

Abstract

The need for a collaborative approach to complex inherited diseases collectively referred to as laminopathies, encouraged Italian researchers, geneticists, physicians and patients to join in the Italian Network for Laminopathies, in 2009. Here, we highlight the advantages and added value of such a multidisciplinary effort to understand pathogenesis, clinical aspects and try to find a cure for Emery-Dreifuss muscular dystrophy, Mandibuloacral dysplasia, Hutchinson-Gilford Progeria and forms of lamin-linked cardiomyopathy, neuropathy and lipodystrophy.
Literature
1.
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D: Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994, 8: 323-327. 10.1038/ng1294-323.CrossRefPubMed
2.
Bonne G, Di Barletta MR, Varnous S, Bècane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999, 21: 285-288. 10.1038/6799.CrossRefPubMed
3.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G: Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002, 71: 426-431. 10.1086/341908.PubMedCentralCrossRefPubMed
4.
Maraldi NM, Capanni C, Cenni V, Fini M, Lattanzi G: Laminopathies and lamin- associated signaling pathways. J Cell Biochem. 2011, 112: 979-992. 10.1002/jcb.22992.CrossRefPubMed
5.
Lattanzi G, Benedetti S, Bertini E, Boriani G, Mazzanti L, Novelli G, Pasquali R, Pini A, Politano L: Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies. Acta Myol. 2011, 30: 138-143.PubMed
Metadata
Title
The empowerment of translational research: lessons from laminopathies
Authors
Sara Benedetti
Pia Bernasconi
Enrico Bertini
Elena Biagini
Giuseppe Boriani
Cristina Capanni
Nicola Carboni
Giovanna Cenacchi
Marta Columbaro
Monica D'Adamo
Adele D’Amico
Maria Rosaria D’Apice
Marianna Fontana
Alessandra Gambineri
Giovanna Lattanzi
Rocco Liguori
Nadir M Maraldi
Laura Mazzanti
Eugenio Mercuri
Tiziana Mongini
Lucia O Morandi
Iria Neri
Giovanni Nigro
Giuseppe Novelli
Michela Ortolani
Renato Pasquali
Antonella Pini
Stefania Petrini
Luisa Politano
Stefano Previtali
Lisa Pucci
Claudio Rapezzi
Giulia Ricci
Carmelo Rodolico
Paolo Sbraccia
Emanuela Scarano
Gabriele Siciliano
Stefano Squarzoni
Antonio Toscano
Liliana Vercelli
Matteo Ziacchi
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2012
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-7-37

Other articles of this Issue 1/2012

Orphanet Journal of Rare Diseases 1/2012 Go to the issue

Research

Rescue of nonsense mutations by amlexanox in human cells

Research

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

Review

A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012

Research

Amyloidosis cutis dyschromica

Research

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Research

Toxic epidermal necrolysis, DRESS, AGEP: Do overlap cases exist?