Over the last ten years I have focused my career in studying of the molecular mechanisms behind human genetic disorders such as ciliopathies and craniofacial anomalies. The final aim of my research is to find a therapeutically solution for these untreatable disorders and cure or alleviate their symptoms. My interest have been focused in Bardet-Biedl Syndrome (BBS), a multi-syndromic disorder with characteristic truncal severe obesity, brain anomalies and retinal degeneration. At a molecular level, I have introduced the concept that the actin cytoskeleton is linked to cilia and play an important cellular role in ciliopathies such BBS.
My research have contributed to the development of animals models to study ciliopathies including zebrafish and BBS mouse models. My work with these mouse models have been an important tool to comprehend the biological progression of the retinal degeneration and obesity. I have help to broad our understanding of the origins of the retinal and obesity phenotypes in BBS, proving how they show a great variability within the penetrance of the phenotypes which is important to understand in the scientific community want to test possible therapies on them.
However, on top of all these efforts I consider that my most important contribution is the development of gene therapy solutions to treat obesity and retinal degeneration in BBS. In collaboration with many groups I have proven that the use of adeno-associated virus (AAV), as vectors to deliver corrected copies of BBS genes, are able to prevent retinal degeneration, obesity and CNS malformations in our BBS mouse models. This have led to a patent application, gene therapy for ciliopathies, which have one single aim; attract funding to start clinical trials in BBS patients. At the beginning of this journey we knew little over the function of the BBS genes, and we are now in a situation where a therapy appears as a real possibility. This is pushing me forward to improve our knowledge brain, obesity and retinal defects in ciliopathies and BBS, to test our therapies and all of this should be achieved using the best collaborative efforts and state of the art technology.
PhD Developmental Biology: “Study of genetic manipulation techniques in Gallus gallus. RNAi and heterologous over expression of amphihox-1” University of Barcelona Department Genetics, School of Biology (07/2006)
Advanced Degree, Post-Master’s (D.E.A., Diploma D'estudis Avançats) “Study of RNAi techniques and search for Dicer gene function in chick embryos” University of Barcelona Department Genetics, School of Biology (07/2003)
MSc, Master in Experimental Biology Introduction to RNAi techniques for gene selective inhibition in chick embryos. University of Barcelona Department Genetics, School of Biology (02/2001)
BSc, Biology Specialization, Health and Human Biology, University of Barcelona (09/1999)
Lecturer in Biomedical Sciences, Precision Medicine and New Technologies (01/2019-) Department of Life Sciences, Division of Biosciences, CHLS, Brunel University London.
Senior Research Associate (12/2017-12/2018) Cilia Disorders section, Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health (GOSICH).
Research Associate. (03/2009-12/2017) Molecular Medicine Unit and the Cilia Disorders Laboratory, UCL Institute of Child Health (ICH)
Research Assistant (03/2008-03/2009) Molecular Medicine Unit, UCL UCL Institute of Child Health (ICH)
Research Technician (09/2000 – 03/2002) Confocal Microscopy Unit and cellular micromanipulation. Scientific-Technical Services of Barcelona’s University.
Newest selected publications
van Dam, MA., Kennedy, J., van der Lee, R., de Vrieze, E., Wunderlich, KA., Rix, S., (2019) 'CiliaCarta: An integrated and validated compendium of ciliary genes'. PLOS ONE, 14 (5). pp. e0216705 - e0216705. ISSN: 1932-6203 Open Access Linket al.
Kretschmer, V., Patnaik, SR., Kretschmer, F., Chawda, MM., Hernandez-Hernandez, V. and May-Simera, HL. (2019) 'Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice'. Investigative Ophthalmology & Visual Science, 60 (4). pp. 1132 - 1143. ISSN: 1552-5783 Open Access Link
Seda, M., Geerlings, M., Lim, P., Jeyabalan-Srikaran, J., Cichon, A-C., Scambler, PJ., (2018) 'An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis'. Molecular Syndromology, 10 (1-2). pp. 98 - 114. ISSN: 1661-8769 Open Access Linket al.
Munye, MM., Diaz-Font, A., Ocaka, L., Henriksen, ML., Lees, M., Brady, A., (2017) 'COLEC10 is mutated in 3MC patients and regulates early craniofacial development'. PLoS Genetics, 13 (3). pp. 1 - 15. ISSN: 1553-7390 Open Access Linket al.
Hernandez-Hernandez, V. and Jenkins, D. (2015) 'Advances in the understanding of the BBSome complex structure and function'. Research and Reports in Biology, 2015 (6). pp. 191 - 201. ISSN: 1179-7274 Open Access Link