Williams Syndrome

Roser Corominas

Williams-Beuren syndrome (WBS) and 7q11.23 microduplication syndrome (7DUP) are rare multisystemic developmental disorders caused by reciprocal deletion or duplication at 7q11.23. These rearrangements are usually generated by non-allelic homologous recombination within the flanking low-copy repeats, expand 1.55-1.83 Mb, and include 26-28 genes. Interestingly, patients present mirroring phenotypes at craniofacial characteristics, cardiac defects, speech and language alterations, among others. Both groups of patients also share some similarities as mild-severe intellectual disability and cognitive defects including autism spectrum disorders and schizophrenia.

In a previous project, we characterized the molecular mechanisms leading to 7q11.23 copy number variants, generated induced pluripotent stem cells (iPSC) models and induced neuronal progenitor cells.

Here, we apply a biology integrative approach combining the generation of differentiated and mature neuronal models, transcriptomics assays and computational analyses to study the characteristics of iPSC-derived neurons. We aim to elucidate the disrupted brain mechanisms involved in 7q11.23 deletion/duplication syndromes and provide a step forward to precision medicine. Our goal is to better understand the brain functional consequences of genetic 7q11.23 deletions and duplications at genetic, molecular and cellular level. In addition, we aim to identify disrupted pathways and rescue the altered phenotypes with genes or therapeutic components. Our approach offers a deeper insight into brain development and neuronal function.

We collaborate with the research group of Dr. Pérez-Jurado (Genetics Unit, Universitat Pompeu Fabra) and Dr. Victoria Campuzano (Universitat de Barcelona).

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