Two SNSF-funded PhD student positions in the group “Mechanisms of Inherited Kidney Disorders” co-led by Prof. Olivier Devuyst and Dr. Alessandro Luciani is located at the Institute of Physiology, at the University of Zurich in Switzerland. Project: Unlocking mechanisms and therapeutic paradigms for rare inherited diseases Inherited defects in lysosome-residing proteins can lead to proximal tubulopathy and kidney disease. Recessive mutations in CTNS, the gene encoding cystinosin/CTNS, cause cystinosis, a lysosomal storage disease characterized by early and severe dysfunction of kidney tubular epithelial cells, progressing towards chronic kidney disease (CKD) and life-threatening complications. Using cystinosis as a paradigm of lysosome dysfunction causing proximal tubulopathy and kidney disease, the project aims to dissect the biological roles of lysosomes in the context of homeostasis, kidney disease, and therapeutic discovery. The applicants will combine preclinical disease models (mouse, rat, and zebrafish), physiologically-relevant cell systems, cell-and lysosome-based function assays, and disease-relevant screening technologies (i) to decipher how the lysosome direct cell fate determination in the kidney tubule epithelium; and to (ii) dissect factors and mechanisms of lysosomal reformation and their roles in normal and diseased cells. By synergizing prior knowledge-based approaches and artificial intelligence (AI)-powered engine with a cross-species screening and validation workflow, the applicant will rank and prioritize actionable drug targets addressing dysregulated homeostasis in cystinosis. Our ultimate goal is to expedite the effective translation of therapeutic agents from preclinical systems to clinical benefits for individuals with cystinosis and other lysosome-related diseases.

Applications are OPEN for the PhD program in Molecular Biomedicine of the University of Trieste (Dottorato in Biomedicina Molecolare dell'Università di Trieste).

These projects are part of a large collaborative network involving Research Centers and Universities in Italy and abroad.

The goal of our lab at the San Raffaele – Telethon institute for Gene Therapy (SR-TIGET) in Milan is to study the regulation of blood cell emergence during human embryonic development. To this aim, we use our innovative hESCs/hiPSCs platform and combine developmental cell and molecular biology to understand normal and pathological human hematopoietic development, with a particular interest in studying the genetic origins for blood disorders and developing novel strategies for their treatment.

Applications are OPEN for the PhD program in Molecular Biomedicine of the University of Trieste (Dottorato in Biomedicina Molecolare dell'Università di Trieste)