Date: Friday, November 17th | Serratosa | 17|11|2023 Time: 10:00 AM Speaker: Dr. Carlos Pardo Pastor…
Date / Time: Tuesday, July 12th, 12:00 PM | Fèlix Serratosa Conference room | 12|07|2022
Speaker: Naiara Akizu, PhD.
Assistant Professor of the Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia and University of Pennsylvania
Title: “From genetics to mechanisms of neural development and disease“
Fèlix Serratosa Conference room. Please, members of IBMB, check your mailbox.
Keywords: EZH1, SNX-RGS, intellectual disability, neurodegeneration.
Abstract: The Akizu lab studies genetic causes and pathogenic mechanisms of neurodevelopmental and childhood neurodegenerative disorders. By collaborating with clinicians and geneticists worldwide, we identify novel disease associated genetic variants. Then, we generate human pluripotent stem cells (hPSCs) and mouse models to study cellular and molecular mechanisms that lead to these disorders. Our functional studies focused on single causative genes, also inform us about novel regulators of neural development and survival, that we use to interrogate exome and genome sequences and expand the network of genetic causes of neurodevelopmental and neurodegenerative disorders. This is beautifully illustrated by our work on EZH1-associated neurodevelopmental disorders. In this project we first identified that EZH1 is necessary for the differentiation of neural progenitors in the chick embryo neural tube and after interrogating genetic data of patients with neurodevelopmental disorders (NDD), we found 17 NDD patients with mutations in EZH1. By using biochemical studies and hPSC models, our subsequent work confirmed pathogenicity of EZH1 variants and uncovered the mechanisms that lead to neurodevelopmental defect. Here, I will talk about this project and I will also provide a brief overview of the Akizu lab work.