E035: Deciphering Autosomal Recessive Neurodevelopmental Disorders
FAU own research funding: EFI / IZKF / EAM ...
Start date : 01.05.2023
End date : 30.09.2025
Project details
Scientific Abstract
Autosomal recessive mutations significantly contribute to intellectual disability and neurodevelopmental disorders (NDDs). However, high genetic heterogeneity of NDDs makes it difficult to prove pathogenicity. Using a comprehensive approach, we will combine genome sequencing and transcriptomics in a unique patient cohort of consanguineous Turkish families with at least two affected children, together with in silico analysis of candidates and in vivo screening in the Drosophila model organism.
Involved:
Peter Soba
Project Leader
André Wiesmann da Silva Reis
Project Leader
Heinrich Sticht
Project Member
Contributing FAU Organisations:
Professur für Zelluläre und Molekulare Neurophysiologie (Heisenberg-Professur)
Interdisziplinäres Zentrum für Klinische Forschung (IZKF)
Lehrstuhl für Humangenetik
Professur für Bioinformatik
Medizinische Fakultät
