Gynecology, Pediatric Diseases and Experimental Surgery
Genetics Medicine
Eduardo Tizzano Ferrari
Researchers
Maria del Mar Borregan Prats, Miguel Del Campo Casanelles, Carmen Mediano Vizuete, Alberto Plaja Rustein, Teresa Vendrell Bayona
Researchers in training
Neus Castells Sarret, Anna Maria Cueto González, Paula Fernandez Alvarez
Collaborations
Elena García Arumí (Neuromuscular and McArdle), Orland Diez Gibert (Oncogenetics), Maria Antolin Maté (Gastroenterology)
SUMMARY
The research group of Genetics Medicine at the Hospital VH belongs to the Area of Clinical and Molecular Genetics combining genetic diagnosis and translational research on hereditary diseases and malformations during human development. Pioneer in Spain (it was founded in 1967), has a powerful structure of Genetic Clinic for dysmorphology diagnosis and genetic counseling, molecular genetics and cytogenetics laboratories. It is a reference center (in coordination with other research groups of the hospital) in various conditions such as fetal alcohol syndrome, velocardiofacial / DiGeorge syndrome and Marfan syndrome and behavior conditions such as autism. More recently other research lines related with motor neuron diseases, particularly spinal muscular atrophy have been incorporated.
PUBLICATIONS
- Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, Del Campo M, Hernando C, Villa O, Plaja A.
Cytogenet Genome Res. 2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. PMID: 25720458 - Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atrophy.
Rebeca Martínez-Hernández,, Sara Bernal, Laura Alias, and Eduardo F. TIZZANO,
J Neuropathol Exp Neurol 2014 Jun;73(6):559-67. - Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Krall P1, Pineda C, Ruiz P, Ejarque L, Vendrell T, Camacho JA, Mendizábal S, Oliver A, Ballarín J, Torra R, Ars E.
Pediatr Nephrol. 2014 Feb;29(2):223-34. doi: 10.1007/s00467-013-2657-7. Epub 2013 Oct 27. - Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Gago-Díaz M, Blanco-Verea A, Teixidó-Turà G, Valenzuela I, Del Campo M, Borregan M, Sobrino B, Amigo J, García-Dorado D, Evangelista A, Carracedo A, Brion M.
Clin Chim Acta. 2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. - Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Kaiser FJ, Ansari M, Braunholz D, Concepción Gil-Rodríguez M, Decroos C, Wilde JJ, Fincher CT, Kaur M, Bando M, Amor DJ, Atwal PS, Bahlo M, Bowman CM, Bradley JJ, Brunner HG, Clark D, Del Campo M, Di Donato N, Diakumis P, Dubbs H, Dyment DA, Eckhold J, Ernst S, Ferreira JC, Francey LJ, Gehlken U, Guillén-Navarro E, Gyftodimou Y, Hall BD, Hennekam R, Hudgins L, Hullings M, Hunter JM, Yntema H, Innes AM, Kline AD, Krumina Z, Lee H, Leppig K, Lynch SA, Mallozzi MB, Mannini L, McKee S, Mehta SG, Micule I; Care4Rare Canada Consortium, Mohammed S, Moran E, Mortier GR, Moser JA, Noon SE, Nozaki N, Nunes L, Pappas JG, Penney LS, Pérez-Aytés A, Petersen MB, Puisac B, Revencu N, Roeder E, Saitta S, Scheuerle AE, Schindeler KL, Siu VM, Stark Z, Strom SP, Thiese H, Vater I, Willems P, Williamson K, Wilson LC; University of Washington Center for Mendelian Genomics, Hakonarson H, Quintero-Rivera F, Wierzba J, Musio A, Gillessen-Kaesbach G, Ramos FJ, Jackson LG, Shirahige K, Pié J, Christianson DW, Krantz ID, Fitzpatrick DR, Deardorff MA.
Hum Mol Genet. 2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8.
PMID:24403048
MAIN RESEARCH PROJECTS
View- Estudio multidimensional del espectro de los trastornos relacionados con la exposición prenatal al alcohol
Principal Investigator: Campo Casanelles, Miguel del
Funding agency: Fondo de Investigación Sanitaria
Reference: PI12/02289 (2013-2015) - Investigación del papel de las reorganizaciones genómicas en los Defectos Congénitos del Corazón (DGC) y desarrollo de nuevas herramientas de diagnóstico genético prenatal y postnatal
Principal Investigator: Plaja Rustein, Alberto
Funding agency: Fondo de Investigación Sanitaria
Reference: PI09/00632 (2010-2014) - Investigación traslacional en la atrofia muscular espinal: genes modificadores, generación de iPSCs y desarrollo neuromuscular
Principal Investigator: Eduardo Tizzano Ferrari
Funding agency: Fondo de Investigación Sanitaria
Reference: PI11/2606 (2011-2014) - Modulating SMN2 splicing with dual inhibitors of Sam68 and hnRNPA1. A novel therapeutic approach for SMA
Principal Investigator: Eduardo Tizzano Ferrari
Funding agency: SMA Europe
Reference: 2014-2016