04-12-2025
Daniela Tomás defended her master’s thesis, titled "The implications of defective sialic acid conditions on cell immune response". This work, carried out at the DCV Glycoimmunology Lab, investigated the possible immunological involvement in GNE myopathy (GNEM), an ultra-rare disease caused by mutations in the GNE gene that result in low levels of sialic acid and, consequently, highly debilitating motor dysfunction.
The work explored how alterations in the sialic acid biosynthetic pathway influence mechanisms associated with MHC-I-mediated antigen presentation, using cellular models and patient fibroblasts to deepen the understanding of the relationship between hyposialylation and potential immunological changes, with particular focus on the expression of genes involved in this pathway.
This approach helped reinforce the importance of investigating the immune component in GNEM pathophysiology and highlights the need for further studies to improve understanding of disease mechanisms and support the development of future therapeutic strategies.
Congratulations, Daniela!
