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Most relevant scientific articles
• Urreizti R., Roca-Ayats N., Trepat J., Garcia-Garcia F., Aleman A., Orteschi D. et al. Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes. American Journal of Medical Genetics, Part A. 2016;170(1):24-31.
• Sintas C., Fernandez-Castillo N., Vila-Pueyo M., Pozo-Rosich P., Macaya A., Cormand B.. Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs. Journal of Pain. 2016.
• Dimitriou E, Cozar M, Mavridou I, Grinberg D, Vilageliu L, Michelakakis H. The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.JIMD reports. 2016.
• Cabana-Dominguez J., Roncero C., Grau-Lopez L., Rodriguez-Cintas L., Barral C., Abad A.C. et al. A Highly Polymorphic Copy Number Variant in the NSF Gene is Associated with Cocaine Dependence. Scientific Reports. 2016;6.
• Fernandez-Castillo N., Cormand B.. Aggressive behavior in humans: Genes and pathways identified through association studies. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2016.
Hightlights
Within the lysosomal disease research line, we used a neuronal model of Sanfilippo C based on iPS cells to perform RNAi treatment tests. We have completed an osteoblast model of Gaucher disease, with complementary assays pending. We obtained and characterized murine models of a splicing mutation generating a pseudoexon responsible for Niemann-Pick C disease (published in 2017).
Within the line on bone diseases, we resequenced Wnt pathway genes and the FLJ42280 gene (published in 2017), and we are completing statistical and functional analyses of interesting variants identified. We generated murine ES cells with homozygous deletion of an FLJ42280 enhancer by CRISPR/Cas9, to obtain a mouse model in the future, and we are performing Hi-C studies. We also identified mutations associated with atypical femoral fractures (by WES) in patients treated with bisphosphonates (submitted).
In the field of neurological diseases, we performed large-scale studies as well as candidate gene approaches to define the genetic landscape of various disorders including autism, migraine, retinal dystrophies, ADHD, drug addiction and aggressive behaviour, including both common and rare SNV and CNV variants. We also performed transcriptomic studies of a mouse model of migraine.
Finally, we have performed WES analyses in patients with a diagnosis of Opitz C or Bohring-Opitz syndrome. We identified the putatively causal mutations in 8 different genes in 8 of 10 families studied. We have just published (2017) one case with a mutation in MAGEL2. We started functional studies of the identified mutations and have started a new round of exome sequencing on new patients of this disease.
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