Postdoctoral Research Fellow in Human Genetics and Functional Genomics

About the role

We are seeking a highly motivated Postdoctoral Research Fellow to join our research team working on human genetics, rare diseases, and functional characterization of genetic variants. The successful candidate will contribute primarily to projects aimed at discovering new genetic disorders and identifying novel genetic causes of human diseases.

Key responsibilities

• Functional characterization and validation of genetic variants, particularly VUS and potentially disease‑causing variants.
• Design and implementation of functional assays to assess the impact of candidate variants.
• Investigation of molecular consequences of variants at the RNA and/or protein levels.
• Development and optimisation of cellular and molecular biology assays.
• Integration of functional data with clinical and genomic information to support variant classification and interpretation.
• Analysis and interpretation of experimental data.
• Collaboration with clinicians, geneticists, bioinformaticians and international research partners.
• Contribution to scientific publications, presentations and grant applications.

Required profile

• PhD in Human Genetics, Molecular Biology, Genetics, Genomics, Cell Biology or a related discipline.
• Strong background in human genetics and molecular biology.
• Familiarity with molecular techniques such as PCR, RT‑PCR/qPCR, DNA/RNA analysis, cloning and protein analysis.
• Experience designing and interpreting functional assays.
• Ability to independently plan experiments, analyse results and troubleshoot laboratory procedures.
• Strong scientific writing and communication skills.

Required skills

• PCR, RT‑PCR, qPCR
• DNA/RNA analysis and cloning
• Protein analysis and Western blotting
• Functional assay design and interpretation
• RNA studies, splicing assays, minigene assays
• Gene expression analysis
• Cell culture and transfection
• Flow cytometry
• CRISPR/Cas‑based approaches
• ACMG/AMP variant classification
• Next‑generation sequencing and genomic data interpretation

What we offer

• Opportunity to work in an interdisciplinary research environment focused on rare diseases, genomic medicine and precision medicine.
• Access to clinical and genomic datasets and collaboration with international research groups.
• Two‑year fixed‑term appointment with the possibility of renewal based on performance and funding.