Skeletal muscle laminopathies are a rare but diverse group of muscle diseases caused by mutations in the LMNA gene. This gene produces nuclear lamins A/C, proteins that provide structural support to the cell’s nucleus. Beyond keeping the nucleus in shape, lamins are also key regulators of DNA organisation and gene activity. In laminopathies, nuclei often become abnormally shaped. However, the impact of these changes on DNA organisation and gene regulation in muscle cells is still poorly understood. Most previous studies have relied on mouse models or non-muscle cell types, which do not fully capture the human disease.
In this PhD project, you will investigate how LMNA mutations alter nuclear structure, DNA organisation, and gene regulation in muscle cells. You will use state-of-the-art human cell models, including induced pluripotent stem cell (iPSC)-derived muscle cells and 3D muscle models pioneered in our lab (www.tedescolab.org). To explore disease mechanisms, you will apply cutting-edge approaches such as advanced imaging, spatial and computational biology.The ultimate goal is to identify how LMNA mutations drive muscle disease and highlight pathways that could be targeted for new therapies.
Candidate profile: We are looking for motivated candidates with expertise in two or more of the following areas: stem cell culture, muscle biology, neuromuscular diseases epigenetics, bioinformatics, computational biology, omics technologies, spatial biology, or tissue engineering.
Start date: in the current (2025-2026) academic year, preferably by January 2026.
Please apply via this link: https://www.ucl.ac.uk/prospective-students/graduate/research-degrees/cell-and-developmental-biology-mphil-phd/2025