Genetic basis of neuroendocrine cell hyperplasia of infancy
Awardee: Nadia Nathan
Institution: Sorbonne University and Inserm
Grant Amount: $87,145.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
Material and methods: Patients will be included in the RespiRare network (Fabre et al. 2022). Patients with a NEHI diagnosis attested by the RespiRare multidisciplinary team (MDT) meeting will be selected. After appropriated consents of the parents, a trio (patient and his two unaffected parents) whole genome sequencing (WGS) will be performed. The identified variants will be studied in terms of in silico pathogenicity and relevance in the context of NEHI pathophysiology. The following gene variants will be selected for comparison between the families: those segregating as new mutations only occurring in affected children and those segregating as recessive traits transmitted from each parent.
Expected results: Identifying molecular causes or predispositions for NEHI is a crucial step in studying the pathophysiology of the disease. This could highlight new pathways of interest that could allow the development of targeted treatments.