The International Association of Relatives and People Affected by Lipodystrophy (AELIP) will renew the collaboration agreement signed in 2019 with the Center for Biomedical Research on Rare Diseases CIBERER which will allow funding until December 2020 for "Detection and characterization of autoantibodies against perilipin 1 in patients with generalized acquired lipodystrophy (Lawrence syndrome)", led by Pilar Nozal Aranda, researcher at the Biomedical Research Consortium in Red M. P. de Enfermedades Raras (CIBERER) and the Hospital La Paz in Madrid, and Santiago Rodríguez de Córdoba, from CIBERER and the Centro de Investigaciones Biológicas (CSIC).
To make this donation effective, the agreement between AELIP and the Consortium for Biomedical Research in the MP Network (CIBER), a state-owned public consortium whose fundamental aim is the promotion and protection of health through the promotion of research, both basic and oriented towards clinical and translational aspects in the field of different thematic areas of research, one of which is Rare Diseases (CIBERER), has been renewed.
This research project aims to analyse the presence of antibodies against perilipin 1 protein in a cohort of patients with acquired generalised lipodystrophy. Previous studies of the group have described for the first time the existence of these autoantibodies and their relationship with the lipodistrophic phenotype in patients.
One of the objectives of the project is focused on knowing the population frequency of this antibody, using a larger cohort of patients with this disease. On the other hand, the pathogenic mechanism of these antibodies will be analysed in depth from the molecular point of view.
Additionally, we intend to test blocking peptides to restore the harmful effect of these autoantibodies in a model of human preadipocytes in culture, which provides the project with a translational purpose.
In addition, the project will also extend the research objectives to study patients with partially acquired lipodystrophy (BarraquerSimons syndrome) in the same t
