Neurodevelopmental Disorders

Pathophysiology of Nervous System Diseases

The development of the central nervous system is strictly modulated by genetic and environmental factors in a spatial-temporal fashion. Even mild disturbances in genes and/or environmental cues during critical periods of the pre- and post-natal development, lead to morphological and functional anomalies that will compromise the normal behaviour and cognitive function. By identifying risk factors and investigating their role in the central nervous system development, utilizing cutting-edge in vitro and in vivo technologies, this programme aims to design new and more effective strategies for therapeutic intervention.

Principal Investigators

Sandra Acosta

Assistant Professor

Soledad Alcantara

Full Professor

Alberto Ortega

Ramon y Cajal Researcher (Assistant Professor)

Technologies & Methods

  • Primary rodent and human neural cell cultures
  • Reprogramming and Stem Cell Technologies
  • CRISPR gene editing
  • In utero electroporation
  • Immunolabeling and in situ hybridisation in tissue and cell systems
  • High-resolution microscopy
  • Flow cytometry
  • Mass-spectrometry
  • Protein and RNA Molecular biology: Western Blot, Dot Blot, qPCR, Immunoprecipitation assays
  • Bulk and Single-cell transcriptomics
  • In vivo models of brain injury
  • Epigenomics
  • Deep Learning
  • Image analysis

Research Team

Andrea Marti

Early Stage Researcher

Jose Pablo Soriano

Early Stage Researcher

Isabe lTurpin

Technician

Gisele Aguiar

Early Stage Researcher

Adriana Modrego-Muñoz

Early Stage Researcher

Laura Garcia-Gonzalez

Postdoctoral Researcher

Marta Cuenca Medina

Technician

Selected publications

Álvarez, Z., Ortega, J. A., Sato, K., Sasselli, I. R., Kolberg-Edelbrock, A. N., Qiu, R., Marshall, K. A., Nguyen, T. P., Smith, C. S., Quinlan, K. A., Papakis, V., Syrgiannis, Z., Sather, N. A., Musumeci, C., Engel, E., Stupp, S. I., & Kiskinis, E. (2023). Artificial extracellular matrix scaffolds of mobile molecules enhance maturation of human stem cell-derived neurons. Cell Stem Cell, 30(2), 219-238.e14. https://doi.org/10.1016/j.stem.2022.12.010

García-González, L., Martí-Sarrias, A., Puertas, M. C., Bayón-Gil, Á., Resa-Infante, P., Martinez-Picado, J., Navarro, A., & Acosta, S. (2023). Understanding the neurological implications of acute and long COVID using brain organoids. Disease Models & Mechanisms, 16(7). https://doi.org/10.1242/dmm.050049

Musokhranova, U., Grau, C., Vergara, C., Rodríguez-Pascau, L., Xiol, C., Castells, A. A., Alcántara, S., Rodríguez-Pombo, P., Pizcueta, P., Martinell, M., García-Cazorla, A., & Oyarzábal, A. (2023). Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome. Journal of Translational Medicine, 21(1), 756. https://doi.org/10.1186/s12967-023-04622-5

Ortega, J. A., Sasselli, I. R., Boccitto, M., Fleming, A. C., Fortuna, T. R., Li, Y., Sato, K., Clemons, T. D., Mckenna, E. D., Nguyen, T. P., Anderson, E. N., Asin, J., Ichida, J. K., Pandey, U. B., Wolin, S. L., Stupp, S. I., & Kiskinis, E. (2023). CLIP-Seq analysis enables the design of protective ribosomal RNA bait oligonucleotides against C9ORF72 ALS/FTD poly-GR pathophysiology. Science Advances, 9(45). https://doi.org/10.1126/sciadv.adf7997

Smith, C. S., Álvarez, Z., Qiu, R., Sasselli, I. R., Clemons, T., Ortega, J. A., Vilela-Picos, M., Wellman, H., Kiskinis, E., & Stupp, S. I. (2023). Enhanced Neuron Growth and Electrical Activity by a Supramolecular Netrin-1 Mimetic Nanofiber. ACS Nano, 17(20), 19887–19902. https://doi.org/10.1021/acsnano.3c04572