Horizone Europe Twining Project -GEMSTONE (sözleşme numarası:101078981 ): Genetically engineering Experimental Models: Enhancement of Scientific and Technological Excellence and innOvation potential to study NEurodevelopmental aspects of brain disorders


Onat F. (Yürütücü), Açıkel elmas M.

  • Proje Türü: UFUK AVRUPA Projesi
  • Proje Grubu: Tıp Sağlık
  • Projenin Yürütüldüğü Birim: Tıp Fakültesi
  • Başlangıç Tarihi: Ekim 2022
  • Bitiş Tarihi: Ekim 2025

Özet

In the past decade, genomics has revealed a wide range of genetic and epigenetic mutations in brain disorders. This knowledge is used to produce animal models in a wide range of diseases for studying the function of targeted genes. Animal models provide crucial tools to understand the pathophysiology of human diseases. Mice (the leading model system for biomedical research) and humans sharing virtually the same set of genes provides a major advantage in creating well-established experimental models. Mouse models afford not only the opportunity to study the mechanisms and pathways responsible for diseases but also to test possible therapeutic agents and evaluate their precise effects. Today, scientists are creating custom-made models of human diseases using mice and developing genetically engineered experimental models (GEMs) in which gene expressions can be controlled more precisely with advanced techniques. GEMs provide a valuable system to study the many aspects of brain disorders, including their neurodevelopmental nature, so that to prevent or intervene as early as possible, and also the involvement of additional genetic and epigenetic factors. Many impactful discoveries in neuroscience field have been made by using these models. Recent years have also shown that, in addition to common developmental diseases of the brain such as structural brain malformations or malformations of cortical development, many neuropsychiatric disorders, from autism to schizophrenia, as well as early and late onset neurodegenerative disorders are indeed also neurodevelopmentally coded. It is only through the study of neuronal development that the origin and pathomechanism of congenital or early onset diseases will be understood. Moreover, the early abnormalities in relatively late onset conditions such as Huntington’s, Parkinson’s or Alzheimer’s disease further emphasize the importance of mechanistic understanding of early brain development.