Postdoctoral fellow

Overview

The CHUV Genetic Medicine Department comprises a clinical unit and molecular and cytogenetics laboratories. The clinical unit includes three senior physicians, three chefs de clinique, three trainees, four genetic counselors, and one psychologist. More than 5,000 patients are seen in consultations each year (neurogenetics, oncogenetics, cardiogenetics, nephrogenetics, etc.).

The molecular and chromosomal diagnostics laboratories include four FAMH biologists, six scientific experts, one bioinformatician, and ten laboratory technicians. More than 2,500 analyses are performed each year using methods such as karyotyping, FISH, array CGH, Sanger, MLPA, and NGS. For complex cases, advanced sequencing technologies such as exome and trio analysis are often used.

We will join a newly established and rapidly growing research team. Projects focus on patients within the Genetic Medicine department who remain without a molecular diagnosis despite extensive analyses. We aim to identify novel genes responsible for rare monogenic diseases and understand the pathophysiological mechanisms underlying these disorders using functional validation approaches, including organoids and in vivo models. Our work is particularly focused on genes implicated in neurodevelopmental disorders and monogenic ataxias.

Collaborations with research teams at the University of Lausanne and EPFL are also being considered.

• Analyze short‑read and long‑read genome sequencing data as part of research activities (80%) and for diagnostic purposes (20%).
• Contribute to the integration and interpretation of results in collaboration with biologists, clinicians, and bioinformaticians.
• Participate in molecular genetics experiments (DNA/RNA extraction, Sanger sequencing, qPCR, etc.).
• Participate in cell biology experiments (cell culture, transfection, genome editing, etc.).
• Participate in the design and drafting of research projects in response to calls for proposals.
• Participate in scientific publications and the promotion of results.
• Monitor scientific and technological developments in new genomic analysis methods.
• Contribute to the supervision and training of students.

PhD in molecular genetics or equivalent.

Prof. Cedric LE CAIGNEC ; cedric.le-caignec