Functional neurogenetics

INDRE Investigation Lines

Identification of risk variants in non-coding regions in epileptic encephalopathies.The human brain evolution has been accelerated since we diverged from apes. Using comparative genomics we have identified non-coding regions in the genome with a high prevalence of epilepsy risk variants. Using comparative genomics in humans , we are workin gin the design of a better platform to advance towards better genetic diagnostic of epileptic encephalopathies, especially in those refractory to drug treatments.

iPSC models -an step towards personalized medecine One of the biggest burdens of the human brain is the lack of reliable models for many of the disease functions. iPSC-derived organoids can overcome many of these caveats. Using patient derived iPSC and/or CRISPR engineering in iPSC we model the neuronal function and we move towards a personalize medecine approach.

Sandra Acosta

Dept of Experimental Science and Health, Universitat Pompeu Fabra

Sandra.acosta@upf.edu

Institution

DCEXS-UPF, Dept of Experimental Science and Health, Universitat Pompeu Fabra

Plaça de la Mercè, 10, 08002 Barcelona

Publications

Novel CRIPSR/Cas9-mediated high efficiency protocol for bi-allelic homologous recombination in mouse embryonic stem cells. Acosta S*, Fiore L, Carota IA, Oliver G. Genesis. 2018 May;56(5):e23212. Corresponding author.
PUBMED DOI
Human pluripotent stem cell-derived cortical neurons integrate functionally into the lesioned adult murine visual cortex in an area-specific way. Espuny-Camacho I, Michelsen KA, Linaro D, Bilheu A, Acosta-Verdugo S, Herpoel A, Giugliano M, Gaillard A, Vanderhaeghen P. Cell Reports. 2018 May 29;23(9):2732-2743
PUBMED DOI
An mouse ESC-derived eye organoid approach identifies Six3 suppression of R-spondin 2 as a critical step in mouse neuroretina differentiation. Takata N, Abbey D*, Fiore L*, Acosta S, Feng R, Gil HJ, Lavado A, Geng X, Interiano A, Neale G, Eiraku M, Sasai Y, Oliver G. Cell Reports. 2017 Nov 7;21(6):1534-1549, *Co-authors.
PUBMED DOI
Six3 dosage mediates the pathogenesis of holoprosencephaly. Geng X, Acosta S, Lagutin O, Gil, HJ, Oliver, G. 2016. Development. 143(23):4462-4473.Co-first author. Cover image.
PUBMED DOI
Specific reestablishment of damaged neuronal pathways in the adult cerebral cortex following grafting of cortical neurons derived from mouse embryonic stem cells. Michelsen KA, Acosta-Verdugo S*, Benoit-Marand M, Espuny-Camacho I, Gaspard N, Saha B, Gaillard, Pierre Vanderhaeghen. 2015, Neuron 85, 982–997 Co-first author.
PUBMED DOI
A familial heterozygous null mutation of MET in autism spectrum disorder. Lambert N, Wermenbol V, Pichon B, Acosta S, van den Ameele J, Perazzolo C, Messina D, Musumeci MF, Dessars B, De Leener A, Abramowicz M, Vilain C. Autism Res. 2014 Oct;7(5):617-22
PUBMED DOI

Staff

Andrea Martí (starting October 2019)

Areas of investigation

Identification of risk variants in non-coding regions in epileptic encephalopathies

iPSC models -an step towards personalized medecine

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