Understanding and Treating Hearing Loss in a Rare Genetic Disorder

A PhD position is available to investigate the mechanisms underlying sensorineural hearing loss (SNHL) in Cornelia de Lange syndrome (CdLS), focusing on the role of Nipbl haploinsufficiency in inner ear development and function.

Project overview

CdLS is a cohesinopathy frequently associated with hearing impairment, yet the molecular basis of SNHL remains poorly defined. Using the Nipbl+/- mouse model, this project aims to:

• Characterize inner ear development under Nipbl haploinsufficiency (morphological, cellular and molecular analyses of cochlear structures).
• Assess auditory function (ABR, DPOAE) to define the functional impact of Nipbl heterozygosity.
• Investigate molecular mechanisms, with particular emphasis on the TGFβ signaling pathway, which has been previously shown to be constitutively activated in cohesinopathies and implicated in CdLS phenotypes.
• Conduct preclinical testing of an FDAapproved kinase inhibitor targeting TGF-β signaling.

Methodological approaches

The project integrates developmental neurobiology, auditory phenotyping, transcriptomics, and in vivo pharmacological intervention. Techniques include histology, immunohistochemistry, gene expression analysis (RT-qPCR, RNA-seq), ABR/DPOAE recordings, and preclinical drug evaluation.

The GIGA Research Center (Interdisciplinary Cluster for Applied Genoproteomics) at the University of Liège is a multidisciplinary biomedical research institute integrating fundamental, translational, and clinical research. It brings together several thematic units—including neuroscience, cancer, infection and immunity, cardiovascular sciences, and metabolic disorders—within a shared technological and infrastructural environment.

GIGA hosts state-of-the-art technology platforms (advanced imaging, genomics, proteomics, flow cytometry, viral vectors, animal facilities, bioinformatics) that support high-level research and foster interdisciplinary collaboration. Its mission is to accelerate the translation of fundamental discoveries into innovative diagnostic and therapeutic strategies, in close interaction with clinical partners and industry.

Master’s degree in neuroscience, molecular biology, developmental biology or related field

Strong interest in neurodevelopmental disorders and translational research

Experience in molecular biology and/or animal models is advantageous

High level of scientific rigor, autonomy, and motivation