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Rare Diseases: research

Clinical research

The Pediatric Institut for Rare Diseases (IPER) conducts different clinical studies. We research Lowe Syndrome, congenital defects related to glycosylation, neurodegeneration with brain iron accumulation (NBIA), in cooperation with Neurology, and hereditary retinal dystrophies (Stargardt disease, Leber congenital amaurosis, achromatopsia, X-linked retinoschisis and cone dystrophy), in cooperation with Ophthalmology. 

All the details of our research can be found on the Rare Commons portal.

The scientific activities of the IPER also include research carried out in the Genetic and Molecular Medicine Department and the Paediatric Research Institute of SJD Barcelona Children's Hospital (IRSJD).

Basic and translational research

The Neurogenetics and Molecular Medicine Group of IRSJD, which aims at understanding cellular, molecular, pathophysiological and therapeutic bases of neurogenetic disorders, uses genomic approaches, cell models and animal models in transgenic and knockout mice, and preclinical trials.

We research neuromuscular diseases (Charcot-Marie-Tooth disease, Friedreich's ataxia), central nervous system disorders such as Parkinson's disease and other movement disorders, Menkes Syndrome and neurodevelopmental disorders, such as Coffin-Siris syndrome.