Within U1211 INSERM/MRGM, Elina Mercier has explored the mechanisms of oculocutaneous albinism and its genetic implications.
Elina Mercier, chercheur·e au sein de U1211 INSERM/MRGM (Université de Bordeaux).
Thèse soutenue en 2025 à l'école doctorale École doctorale Sciences de la vie et de la santé.
Référencée dans le réseau ABES/STAR, cette thèse répond aux critères de rigueur de l'enseignement supérieur français.
Oculocutaneous albinism is a rare genetic disease that affects the pigmentation of the skin, hair, and eyes. This condition, often misunderstood and surrounded by prejudice, is the leading cause of congenital blindness, affecting thousands of people worldwide, particularly in West Africa where cases are particularly frequent. Individuals with albinism often face challenges not only medically but also socially, due to the stigma surrounding their condition. Research conducted by Elina Mercier at the University of Bordeaux focuses on identifying new pathogenic variants associated with this disease, as well as characterizing the pathophysiological mechanisms that arise from it.
Mercier's work has helped to overcome several scientific barriers, particularly by deepening the understanding of the molecular mechanisms involved in the splicing of exon 10 of the OCA2 gene, a key gene in the development of albinism. This gene is essential for the production of tyrosinase, an enzyme involved in the synthesis of melanin, the pigment responsible for the coloration of the skin, hair, and eyes. By identifying new pathogenic variants, this research paves the way for more accurate diagnostics and potential treatments for patients in diagnostic limbo, who are often left unanswered regarding their condition.
The methodology employed includes minigene constructs and anti-sense RNA mapping experiments, allowing for a detailed analysis of splicing mechanisms. Although specific numerical data have not been provided, the results underscore the need to continue research on the splicing mechanisms of OCA2 exon 10. This work could enrich our understanding of oculocutaneous albinism and contribute to advances in the fields of genetics and medicine. Indeed, a better understanding of pathophysiological mechanisms could also open pathways to gene therapies, a rapidly expanding field in medical research.
It is crucial to ask how these discoveries can be translated into concrete actions to improve the lives of individuals with albinism. Policymakers must question public health policies regarding genetic screening and access to care. In West Africa, where medical resources are often limited, it is imperative to develop awareness and early screening programs to identify cases of albinism. Research on albinism should not be isolated but integrated into a broader framework of combating rare diseases in West Africa.
Strategic recommendations for future research emphasize the importance of genetics in understanding rare diseases. Policymakers should support collaborative research initiatives, promote access to specialized care, and raise public awareness about issues related to albinism. For example, awareness campaigns could help reduce stigma and promote acceptance of individuals with albinism in society. Ultimately, it is about transforming scientific knowledge into tangible benefits for patients and their families.
The implications of this research go beyond the mere identification of genetic variants. They touch on ethical, social, and economic issues, particularly regarding access to care and the protection of the rights of individuals with albinism. By integrating these dimensions into research, we can hope not only to improve the quality of life of affected individuals but also to contribute to a more inclusive and respectful society of differences.
Thus, research on oculocutaneous albinism, driven by initiatives like those of Elina Mercier, represents a significant advance in the fight against rare diseases. It reminds us of the importance of science in the service of humanity and the necessity to continue investing in research that has the potential to transform lives.
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Sources et accès
Elina Mercier. Albinisme oculocutané : de l’identification de nouveaux variants pathogènes à la caractérisation des mécanismes physiopathologiques. Génétique. Université de Bordeaux, 2025. Français. ⟨NNT : 2025BORD0430⟩. ⟨tel-05503486⟩