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We should also give some examples of several ndings made by this programme:
• Better understanding of the molecular mechanisms of rare diseases thanks to the identi ca- tion of several microRNAs as minimally invasive biomarkers of propionic acidemia (groups coordinated by A Ribes and M B Pérez González), or the research done by the groups coor- dinated by R Estévez and V Nunes helping to gain a better understanding of a physiopatho- logical process in astrocytes involved in megalencephalic leukoencephalopathy (MLC), a rare type of leukodystrophy
• Discovery of possible channels for treatment of rare diseases thanks to D-serin –a diet sup- plement – which improves the neuronal function of a patient with a mutation of the gluta- mate receptors associated with atypical Rett syndrome with severe encephalopathy (P I of the Group: R Artuch)
• Discovery of a mutation predisposing to rare fracture of the femur in patients taking drugs for osteoporosis This nding, of great clinical signi cance, has been published in the prestigious journal New England Journal of Medicine (P I of the Group: D Grinberg)
• Identi cation of the gene causing Opitz C syndrome in the only person diagnosed in Catalonia with this ultra-rare disease (P I of the Group: D Grinberg)
• Generation of murine models with the main characteristics of Niemann-Pick disease type C (P I of the Group: D Grinberg)
Lastly, thanks to the donations of patient’s associations, the Groups have got projects such as the fol- lowing under way:
• Development of new treatments in CDG (P I : M B Pérez González – donation from the Asoci- ación Española del Síndrome de CDG)
• Test on compassionate use for treatment of cerebral adrenoleukodystrophy (Group P I s: A Pujol and R Artuch - Donation through the Hotel Barcelona Princess)
88 CIBER ANNUAL REPORT 2017