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Most relevant scientific articles
• corton m, aVila-FernanDez a, Vallespín e, lópez-molina mi, almoGuera b, martín-GarriDo e, tatu sD, imran KHan m, blanco-Kelly F, riVeiro-alVarez r, brión m, García-sanDoVal b, p.m. cremers F, carraceDo a, ayuso c. Involvement of LCA5 in Leber Congenital Amaurosis and Retinitis Pigmentosa in the Spanish Population . Ophthalmology 2014 Jan;121(1):399-407 Epub 2013 Oct 18 PMID: 24144451 doi:pii: S0161-6420(13)00776-8 . 10 .1016/j . ophtha .2013 .08 .028 . IF(2013): 6,170 5-Year Impact Factor (2013): 6,195 Q(2013) Q1 D1 (2:58)
• Dal-ré raFael, Katsanis nicHolas, Katsanis sara, parKer lisa s, ayuso c. Managing incidental genomic findings in clinical trials: fulfillment of the principle of justice in human subjects research . PLoS Medicine . 2014 Jan 11;1:e1001584 . PMID: 24453945 . IF(2013): 14,000 5-Year Impact Factor (2013): 17,945 Q(2013) Q1 D1 (6:156)
• nisHiGucHi Km; aVila-FernanDez a; Van Huet rac, corton m, perez-carro r, martin-GarriDo e, lopez-molina mi, blanco-Kelly F, HoeFsloot lH, Van zelst-stams Wa, Garcia-ruiz pJ, Del Val J, Di Gioia sa, KleVerinG bJ, Van De Wa- rrenburG bart pc, Vazquez c, cremers Fpm, Garcia-sanDoVal b, HoynG cb, collin rWJ, riVolta c , ayuso c. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndrome to non-syndromic retinal degeneration . Ophthalmology 2014 Mar 31 S0161-6420(14)00138-9 PMID: 24697911 . IF(2013): 6,170 5-Year Impact Factor (2013): 6,195 Q(2013) Q1 D1 (2:58)
• sáncHez-alcuDia r, corton m, aVila-FernanDez a, zurita o, tatu sD, perez-carro r, FernanDez-san Jose p, lopez-martinez ma, Del castillo FJ, millan Jm, blanco-Kelly F, Garcia-sanDoVal b, lopez-molina mi, riVeiro-alVarez r, ayuso c. Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dys- trophies families . Invest Ophthalmol Vis Sci . 2014 Oct 23 . 55(11):7562-71: doi: 10 .1167/iovs .14-14938 . PMID: 25342620 . IF(2013): 3,661 5-Year Impact Factor (2013): 3,754 Q(2013) D1 (6:58)
• ayuso c, millan Jm, Dal-re r. Management and return of incidental genomic findings in clinical trials . Pharmacogeno- mics J . 2014 Oct 28 . PMID: 25348616 . IF(2013): 5,513 5-Year Impact Factor (2013): 4,531 Q(2013) Q1 D1 (14:256)
Highlights
Institution: Instituto de Investigacion Sanitaria - Fundación Jiménez Díaz Contact: Instituto de Investigación Sanitaria Fundación Jiménez Díaz – UAM / Área de Genética y
Genómica . Avda . de los Reyes Católicos, 2 . 28040 Madrid · Phone: (+34) 91 550 48 72 E .mail: cayuso@fjd .es · Website: http://www .fjd .es/iis_fjd/es/areas-grupos-investigacion/genetica
The U704 is set up by a group of professionals with a wide experience in research projects, mainly coordinated and translational . The U704 contributes to the study of many hereditary diseases and is crucial for the clinical activity (diagnosis and prevention of genetic diseases) and for the development of research by other CIBERER groups with which it collaborates . It contributes to the translation into clinical practice applied to hereditary diseases (Ophthal- mology, Oncology, Neuroscience, Cardiovascular, Reproductive and Fetal Health) by developing algorithms and diagnostic techniques, new therapies (cellular, genetic and pharmacological) and prevention strategies for compre- hensive patient care .
Among 2014, the group’s activity has allowed the implementation of new technologies, as next generation se- quencing (NGS) and CGH array, to the genetic study of Rare Diseases leading to a fast and cost-efficient diagnosis . Five panel genes (NGS) have been validated for clinical practice (Macular Dystrophies, Retinitis Pigmentosa, Heart Disease, Oncogenetics and Eye Malformations) and the diagnostic algorithms have been combined with array CGH to detect genomic deletions-inserts .
The application of Whole Exome Sequencing (WES) in patients affected by different rare diseases as ophthalmo- genetic disorders, main line of research, has allowed establishing new genotype-phenotype associations, in colla- boration with national and international groups, and identifying new genes as cause of different rare diseases . Currently, U704 is part of two European projects:
1) New cost-effective techniques by the use of gene panels (NGS) applying the Molecular Inversion Pro- bes (MIPs) technique as part of the European Retinal Diseases Consortium (ERDC) .
2) WGS as a strategy for identifying new genetic alterations in monogenic diseases (NEXOME Project, Prof Carlo Rivolta, Lausanne University) .
In collaboration with other CIBERER groups has been involved in legal ethics-translational aspects of the massive sequencing (U755), in the ethical and legal aspects of genetic databases (U711) and in the design of informed consent and ethical-legal studies (SPANEX Project) .
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