Lab of Medical Genetics
Tor Vergata University – Policlinico of Tor Vergata
Viale Oxford, 81 00133 Roma
Phone: +39 06 20900664 or 72596072
Equipment and facilities of the group and centre
- Genetic, cellular and molecular biology expertise
- Clinical genetics expertise
- Genetic and cytogenetic diagnostic expertise
- Microarray and aCGH platforms
- Animal facility
- Next generation sequencing facility
Topics of interestClinical and molecular diagnosis of type A and B Mandibuloacral Dysplasia (MADA and MADB) and premature aging laminopathies.
- Partner of Italian Network for Laminopathies (available on line at http://www.igm.cnr.it/1/laminopatie/)
- Investigation of pathophysiological mechanisms of systemic laminopathies (molecular and cellular study of different MADA cellular models as iPS, mesenchimal stem cells and cutaneous fibroblasts, generation and study of transgenic MADA mouse model)
- Development of therapeutic strategy for MADA disease (pharmacological therapies)
- Coordination and conduction of a clinical trial to treat MADA patients
- Camozzi D, D'Apice MR, Schena E, Cenni V, Columbaro M, Capanni C, Maraldi NM, Squarzoni S, Ortolani M, Novelli G, Lattanzi G. Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. Histochem Cell Biol. 2012 Oct;138(4):643-51.
- Shastry S, Simha V, Godbole K, Sbraccia P, Melancon S, Yajnik CS, Novelli G, Kroiss M, Garg A. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab. 2010 Oct;95(10):E192-7
- Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y. Atypical progeroid syndrome due to heterozygous missense LMNA mutations. J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83.
- di Masi A, D'Apice MR, Ricordy R, Tanzarella C, Novelli G. The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. Cell Cycle. 2008 Jul 1;7(13):2030-7.
- Lombardi F, Fasciglione GF, D'Apice MR, Vielle A, D'Adamo M, Sbraccia P, Marini S, Borgiani P, Coletta M, Novelli G. Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. Clin Genet. 2008 Oct;74(4):374-83.
- Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM. Primary laminopathy fibroblasts display altered genome organization and apoptosis. Aging Cell. 2007 Apr;6(2):139-53.
- Foisner R, Aebi U, Bonne G, Gruenbaum Y, Novelli G. 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands Neuromuscul Disord. 2007 17(8):655-60.
- Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G. Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci. 2005 Nov;62(22):2669-78.
- Filesi I, Gullotta F, Lattanzi G, D'Apice MR, Capanni C, Nardone AM, Columbaro M, Scarano G, Mattioli E, Sabatelli P, Maraldi NM, Biocca S, Novelli G. Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics. 2005 Oct 17;23(2):150-8.
- 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 lamins A/C. Am J Hum Genet 2002;71: 426-431.