Simoni Avansini
University of Campinas
Brasil

Stem cell-based organoid models of neurodevelopmental disorders

Neurodevelopmental disorders (NDDs) associated with epilepsy are complex, polygenic conditions with limited therapeutic options, mainly due to an incomplete understanding of their genetic basis and the lack of representative human models. In this presentation, I will discuss the use of human brain organoids derived from induced pluripotent stem cells of NDD patients. I will also present findings from brain organoids generated from patients with Focal Cortical Dysplasia, which recapitulate key disease hallmarks, including impaired proliferation, cellular abnormalities, and neuronal network hyperexcitability. These models provide a relevant platform to investigate disease mechanisms and enable therapeutic screening.

Dr. Avansini is a researcher at the University of Campinas (Brazil), where her work focuses on epilepsy, molecular biology, malformations of cortical development, and disease modeling using stem cells. Since 2010, she has been studying focal cortical dysplasia (FCD), aiming to understand the pathophysiology of this cortical malformation and ultimately accelerate the development of new treatments. Recently, she began her career as an independent researcher, with a particular interest in neurodevelopment and, more specifically, epileptogenesis in FCD using human brain models. Her contributions to science are focused on epilepsy and malformations of cortical development using molecular biology, genetics, and stem cell biology. She has published 17 full papers in peer-reviewed journals, with 902 citations and an H-index of 14 according to Google Scholar.

Andres Moreno-Estrada
Cinvestav South Campus
Mexico City

"Population medical genomics in Latin America: The Mexican Biobank Project"

Dr. Andres Moreno-Estrada is a leading researcher in population and evolutionary genomics whose work has significantly advanced the understanding of genetic diversity in Latin America. He led the first comprehensive study of the genetic structure of the Mexican population, including the genomes of 20 Indigenous groups, published in Science in 2014. His research demonstrated how regional Indigenous ancestry shapes the genetic diversity of Mexico’s cosmopolitan population and influences biomedical traits.

He has since expanded similar genomic studies across the Caribbean, South America, and Polynesia, including landmark research on the Rapanui population of Easter Island published in Nature in 2020. He currently leads the MX Biobank project, creating the most comprehensive genomic catalogue of the Mexican population, featured in Nature and Nature Medicine.

Dr. Moreno-Estrada has published more than 55 peer-reviewed papers with over 32,000 citations and has contributed to major international initiatives including the 1000 Genomes Project and the Human Cell Atlas. He is currently Principal Investigator of the Population and Evolutionary Genomics Laboratory at Cinvestav in Mexico City.