The empowerment of translational research: lessons from laminopathies.
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.
Sara
S
Benedetti
Pia
P
Bernasconi
Enrico
E
Bertini
Elena
E
Biagini
Giuseppe
G
Boriani
Cristina
C
Capanni
Nicola
N
Carboni
Giovanna
G
Cenacchi
Marta
M
Columbaro
Monica
M
D'Adamo
Adele
A
D'Amico
Maria Rosaria
MR
D'Apice
Marianna
M
Fontana
Alessandra
A
Gambineri
Giovanna
G
Lattanzi
Rocco
R
Liguori
Nadir M
NM
Maraldi
Laura
L
Mazzanti
Eugenio
E
Mercuri
Tiziana
T
Mongini
Lucia O
LO
Morandi
Iria
I
Neri
Giovanni
G
Nigro
Giuseppe
G
Novelli
Michela
M
Ortolani
Renato
R
Pasquali
Antonella
A
Pini
Stefania
S
Petrini
Luisa
L
Politano
Stefano
S
Previtali
Lisa
L
Pucci
Claudio
C
Rapezzi
Giulia
G
Ricci
Carmelo
C
Rodolico
Paolo
P
Sbraccia
Emanuela
E
Scarano
Gabriele
G
Siciliano
Stefano
S
Squarzoni
Antonio
A
Toscano
Liliana
L
Vercelli
Matteo
M
Ziacchi
D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D033183:Interdisciplinary Communication; D034882:Lamins / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D008060:Lipodystrophy / Q000235:genetics / Q000473:pathology; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009685:Nuclear Envelope / Q000235:genetics / Q000473:pathology; D011371:Progeria / Q000235:genetics / Q000473:pathology; D035583:Rare Diseases; D057170:Translational Research, Biomedical
D034882:Lamins