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PhD student Nelson Martins and Prof. Elfride De Baere recently visited the Institute for Neurosciences of Montpellier in France to participate in a specialized training session organized by the ProgRET Marie-Curie Doctoral Network (https://www.progret.eu/).
The program featured two complementary skills workshops — Excellence in Science Communication and Fundraising and Patient Engagement — as well as a research training focused on animal and cellular models for studying inherited retinal diseases (IRD). The training also included contributions from patients organizations and experts, including Science to the Point, Fighting Blindness Ireland, and Retina International. Special guest lectures were delivered by Julio Corral Serrano (Senior Research Fellow, UCL Institute of Ophthalmology) and Nuna Naash (Professor, University of Houston). Nelson (and the other ProgRET fellows) have also visited Vasiliki Kalatzis' lab whose members shared insights on iPSC and iPSC-derived hRPE and retinal organoid cultures. A big congrats to dr. Cicekdal, for defending her PhD project titled 'Decoding the non-coding regulatory genome: modelling of eye enhancerophathies in Xenopus tropicalis'. We are happy to report that we are recruiting Burcu as a junior postdoc at lab De Baere to solidify our expertise with animal models in developmental genetics.
The thesis can be read here.
Elfride and several lab members went to Salt Lake City in Utah for the annual ARVO meeting. Elfride chaired a session on inherited eye disease and our lab had several oral presentations and posters to present.
Alfredo's thesis on "Uncovering the role of non-coding regulatory variation in inherited retinal disease", was defended with great success. Alfredo was one of fourteen PhD students within the StarT Marie-Curie doctoral training network. Congratulation Alfredo, we wish you all the best in your future career.
Dr. Dueñas Rey's thesis can be found here.
From 17-20th of October, 4 members of the De Baere Lab team attended the EMBO workshop on enhanceropathies: understanding enhancer function to understand human diseases, in Marseille (France). Lieselot presented a poster on one of the causes of North Carolina Macular Dystrophy (NCMD), namely non-coding duplications near IRX1. Chromatin interaction profiling of this region uncovered 10 candidate cis-regulatory elements (cCREs). Her poster details how she will investigate the underlying disease mechanisms of NCMD, a retinal enhanceropathy.
Charlotte presented a poster on her research deciphering the cis-regulatory region of FOXL2, a key factor in ovarian development. By combining her self-generated Hi-C and UMI-4C data in granulosa cells with publicly available OMICS data, she was able to identify 35 cCREs and 2 lncRNAs that will be validated using CRISPRi. Eva presented a poster on a comparative 3D genome analysis between neural retina and RPE and the implications for the regulation of retinal disease genes. Lastly, also Victor presented a poster where he unravels the cis-regulatory landscape of ABCA4, in adult human retina. NEW PAPER ALERT!
By Alfredo Duenas Rey & Victor Lopez Soriano Cross-species genome comparisons have revealed a substantial number of ultraconserved non-coding elements (UCNEs). Several of these elements have proved to be essential tissue- and cell type-specific cis-regulators of developmental gene expression. Here, we characterized a set of UCNEs as candidate CREs (cCREs) during retinal development and evaluated the contribution of their genomic variation to rare eye diseases, for which pathogenic non-coding variants are emerging. Integration of bulk and single-cell retinal multi-omics data revealed 594 genes under potential cis-regulatory control of UCNEs, of which 45 are implicated in rare eye disease. Mining of candidate cis-regulatory UCNEs in WGS data derived from the rare eye disease cohort of Genomics England revealed 178 ultrarare variants within 84 UCNEs associated with 29 disease genes. Overall, we provide a comprehensive annotation of ultraconserved non-coding regions acting as cCREs during retinal development which can be targets of non-coding variation underlying rare eye diseases. Prof. Elfride De Baere, received a generous fund granted by the King Baudouin Foundation last week. This grant will be used for further research studies in our research group on functional genomics in the retina.
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