The research group led by professor Fatima Pedrosa Domellöf has two main tracks: one being "The molecular portfolio of the extraocular muscles: keys to protection in muscle disease and to modulation of strabismus surgery" and the other "Signaling pathways in Aniridia Related Keratopathy".
The molecular portfolio of the extraocular muscles: keys to protection in muscle disease and to modulation of strabismus surgery
The extraocular muscles are the effectors for ocular motility and have physiological properties that separate them from other muscles, not least their distinct behaviour in disease, in particular their relative insensitivity in muscular dystrophies.
The main goals are to understand how the unusual molecular composition of the extraocular muscles may contribute to their resistance to muscular dystrophies and to identify novel approaches to optimize the effect of strabismus surgery. These are important goals, since there are no good therapeutic tools to help patients with muscular dystrophies. The outcome of strabismus surgery is often unsatisfactory with very high re-operation rates, important economic burden and loss of quality of life.
Signaling pathways in Aniridia Related Keratopathy
Aniridia related keratopathy is a blinding complication of aniridia that causes severe suffering to these patients due to chronic inflammation, altered wound healing, neovascularization, conjunctivalization and scarring of the cornea. However, little is known in aniridia concerning important molecular pathways that regulate cell differentiation and proliferation, gene transcription and protein synthesis as well as tissue polarity.
We have a valuable collection of cornea buttons donated by aniridia patients who had to be transplanted. We have shown that several cell differentiation and proliferation signaling pathways are altered in the cornea of aniridia patients.
Therefore, the main purpose of this project is to systematically study relevant cell signaling pathways in the cornea of these patients and in a novel in vitro cell culture model and to determine eventual interactions between the different pathways, with the ultimate aim of finding possible check points that may be modulated to decrease the impact of the disease.