E035: Deciphering Autosomal Recessive Neurodevelopmental Disorders
FAU own research funding: EFI / IZKF / EAM ...
Start date : 01.04.2023
End date : 30.10.2025
Extension date: 30.04.2026
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.
Contributing FAU Organisations:
Interdisziplinäres Zentrum für Klinische Forschung (IZKF)
Lehrstuhl für Humangenetik
Professur für Bioinformatik
Professur für Zelluläre und Molekulare Neurophysiologie
Medizinische Fakultät
