Page 47 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
aVila-FernándeZ a, PéreZ-carro r, cortón m, lóPeZ-mo- lina mi, camPello l, garanto a et al. Whole-exome se- quencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal al- terations. Hum Mol Gen 2015 Jul 15;24(14):4037-48 doi: 10.1093/hmg/ddv140. PMID: 25882705
niKoPoulos K, aVila-FernándeZ a, corton m, lóPeZ-moli- na mi, PereZ-carro r, Bontadelli l, et al. Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. Sci Rep. 2015 Sep 9;5:13902. PMID: 26350383
Highlights
PROJECTS
IP: C. AYUSO
1. “Identification of new molecular mechanisms in reti- nal dystrophies, translation to diagnosis and devel- opment of new gene and cell therapies.” ISCIII (PI13 / 00226).
2. “Molecular and functional characterization of sporadic or autosomal dominant retinal dystrophies. Combined molecular mapping and exomic sequencing strate- gies” ACCI (ER15PR05ACCI14-704).
3. CONSYN: “Challenging the molecular diagnosis of Complex and Rare Diseases: WES analysis for Con- genital Syndromes”. CNAG-Call: 300 exomes to eluci- date rare diseases.
4. “Clinical and molecular characterization in Spanish families with adDR using Next Generation Sequencing (NGS). Searching for new genes and algorithms de- sign for molecular diagnosis”. ONCE 2014.
5. “Clinical exome sequencing as a proxy for clinical and genetic characterization of Spanish families affected syndrome retinal Distrophies (sRD)”. ONCE 2015.
IP-WP: C. AYUSO
6. “SPANEX (Spanish Exomes Project). A web-based da- tabase of variants of the normal monitoring healthy population of 1000 Spanish people”. CIBERER-ISCIII.
7. “Beyond the Genome;. Training the next generation of ophthalmic Researchers EyeTN” (Marie Curie Interna- tional Training Network).
aYuso c, millan Jm, dal-re r. Management and return of incidental genomic findings in clinical trials. Pharmacog- enomics J. 2015 Feb;15(1):1-5. doi: 10.1038/tpj.2014.62. PMID: 25348616
luKoVic d, artero-castro a, delgado aB, Bernal m de l, luna PeláeZ n, díeZ lloret a et al,. Human iPSC derived disease model of MERTK-associated retinitis pigmentosa. Sci Rep. 2015 Aug 11;5:12910. PMID: 26263531
castro-sáncheZ s, álVareZ-satta m, cortón m, guillén e, aYuso c, ValVerde d. Exploring genotype-phenotype re- lationships in Bardet-Biedl syndrome families. J Med Gen- et. 2015 Aug;52(8):503-13. PMID: 26082521
IP: M. CORTÓN
9. ”Towards a better understanding of the genetic basis of congenital eye malformations using high-through- put genomic technologies”. Miguel Servet 2013.
10. “Molecular Study of Aniridia and other congenital eye malformations: Find new genetic mechanisms by NGS” (SAF2013-46943-R).
11. “Application of NGS techniques to genetic study of aniridia and other anterior segment dysgenesis.” Mu- tua Madrileña Foundation.
BOOK “Gestión de datos genómicos con finali- dad clínica y de investigación. Grupo de trabajo en gestión de datos genómicos”. External Review- er: Carmen Ayuso. Roche Farma Idemm Institute and S.L. ISBN: 978-84-944589-1-0 Legal Deposit: B 28474-2015.
WORKING GROUP Guía de Práctica Clínica sobre Distrofias de Retina” Ministry of Health.
ORGANIZATION OF COURSES / SEMINARS:
“Pharmacogenetics”; “Genetic Medicine”; “DNA-day”; “Research on rare and common diseases”; “CNAG Symposium”; “Albino Day”; “Genomics C. Madrid”; “XLVIII L. Conmemorativa Jiménez Díaz”.
Institution: Fundación Instituto de Investigación Sanitaria Fundación Jiménez Díaz. Contact: Avda. Reyes Católicos, 2. 28040 MADRID · Tel.: 91 550 48 72 / 73
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