Patrick Harrison BioSciences Institute, University College Cork, Cork, Ireland
1 protocol

David J. Sanz
  • Post-Doc, Physiology, University College Cork, Ireland
Research focus
  • Cystic Fubrosis, CRISPR/Cas9, Gene editing, Splicing, Base editing
  • 1 Author merit


PhD, UVA, 2009

Lab information

Harrison's lab is focused in the development of gene editing strategies for cystic fibrosis.


· A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. Clin Cancer Res, 2009. CCR-09-2564R. David J. Sanz, Alberto Acedo, Mar Infante, Mercedes Durán, Lucía Pérez-Cabornero, Eva Esteban-Cardeñosa, Enrique Lastra, Franco Pagani, Cristina Miner and Eladio A. Velasco.
· BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin. Clinical Genetics, Volume 77, Number 1, January 2010 , pp. 60-69(10). Infante, M; Durán, M; Acedo, A; Pérez-Cabornero, L; Sanz, DJ; García-González, M; Beristain, E; Esteban-Cardeñosa, E; de la Hoya, M; Teulé, A; Vega, A; Tejada, M-I; Lastra, E; Miner, C; Velasco, EA.
· Two founder BRCA2 mutations predispose to breast cancer in young women. Breast Cancer Res Treat, 2009. DOI 10.1007/s10549-009-0661-1. Mar Infante, Mercedes Duran, Adriana Lasa, Alberto Acedo, Miguel de la Hoya, Eva Esteban-Cardeñosa, David J. Sanz, Lucia Pérez-Cabornero, Enrique Lastra, Cristina Miner, Eladio A. Velasco.
· A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. European Journal of Cancer, Volume 45, Issue 8, Pages 1485-1493, 2009. L. Perez-Cabornero, E. Velasco, M. Infante, D. Sanz, E. Lastra, L. Hernández, C. Miner, M. Duran.
· Heteroduplex analysis by capillary array electrophoresis for rapid mutation detection in large multiexon genes. Nature Protocols, Vol2, No.1, 2007. doi:10.1038/nprot.2006.482 Eladio Velasco, Mar Infante, Mercedes Durán1, Luc?a Pérez-Cabornero, David J Sanz, Eva Esteban-Cardeñosa & Cristina Miner.
· Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. Breast Cancer Research, Vol14, No3, 2012. Acedo, A. Sanz, D.J, Durán, M., Infante, M., Pérez-Cabornero, L., Miner, C., Velasco, E.A.
· Stepwise Surface Tailoring of Carbon nanotubes with Polyelectrolyte Brushes and Lipid Layers to Control their Intracellular Distribution and "in vitro" Toxicity. Soft Matter, 7, 2011, 6883-6890. Gabriela Romero, Irina Estrela-Lopis, Pablo Castro Hartman, Elena Rojas, Irantzu Llarena, David Sanz, Edwin Donath and Sergio Moya.
· Lipid layer engineering of Poly(lactide-co-glycolide) Nanoparticles to control their uptake and intracellular targeting towards the endoplasmic reticulum. J. Mater. Chem. B, 2013,1, 2252-2259 DOI:10.1039/C3TB00284E. Gabriela Romero, David José Sanz, Dahai Yu, Mao Zhengwei, Changyou Gao and Sergio Moya.
· Poly (lactide-co-glycolide) Nanoparticles Layer by Layer engineered for the sustainable delivery of antiTNF-α. Macromol. Biosci. 2013, DOI: 10.1002/mabi.201200478. Gabriela Romero, Olaia Ochoteco, David José Sanz, Irina Estrela-Lopis, Edwin Donath and Sergio Moya.
· Layer by layer surface engineering of poly (lactide-co-glycolide) nanoparticles: a versatile tool for nanoparticle engineering for targeted drug delivery. Science in China. January 2013 Vol.56 No.1: 1–11 doi: 10.1007/s11426-013-4891-z. ROMERO Gabriela, MURRAY Richard A., QIU Yuan, SANZ David, MOYA Sergio E.
. Impact of gene editing on the study of cystic fibrosis. Harrison PT, Sanz DJ, Hollywood JA. 2016. Hum Genet. 2016 Sep;135(9):983-92. doi: 10.1007/s00439-016-1693-3.
.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Fraile-Bethencourt E1, Díez-Gómez B1, Velásquez-Zapata V1, Acedo A1, Sanz DJ1, Velasco EA1. PLoS Genet. 2017 Mar 24;13(3):e1006691. doi: 10.1371/journal.pgen.1006691.
. Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intron splicing mutations restores normal splicing of CFTR mRNA. Sanz D., Hollywood J., Scallan M., Harrison P. PLOS Genetics. 2017.
1 Protocol published
Minigene技术评估会导致人细胞产生异常剪切的基于CRISPR/Cas9 的内含子突变切除
Authors:  David J. Sanz and Patrick T. Harrison, date: 06/05/2019, view: 3765, Q&A: 0
The construction of Hybrid minigenes provides a robust and simple strategy to study the effects of disease-causing mutations on mRNA splicing when biological material from patient cells is not available. Hybrid minigenes can be used as splicing ...
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