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Women Holding Hands
GENETICS OF ULTRA-RARE NEURODEVELOPMENTAL DISORDERS
INCLUDING THE OPITZ C SPECTRUM SYNDROMES

Susanna Balcells; Daniel Grinberg; Kelly Rabionet

We have performed exome sequencing to identify the genetic cause in a number of cases with a clinical diagnosis of the ultra-rare Opitz C syndrome, as well as in other cases with neurodevelopmental disorders. We have identified novel genes leading to these phenotypes, each found in a reduced number of families. We are currently pursuing functional characterization of mutations in three of these genes, MAGEL2, TRAF7 and TRIM28, to better understand both the respective diseases and the normal function of the genes. We have obtained fibroblasts from patients and relatives with mutations in MAGEL2 and TRAF7 and hope to have fibroblasts from TRIM28 patients, soon. We are currently characterizing these three diseases at the cellular level and plan to derive neurons via generation of iPSCs. Our final goal is to test potential treatments in these neurons. This research line is developed in collaboration with researchers and clinicians at Hospital Sant Joan de Déu, as well as with international teams in Paris, Los Angeles and Washington DC.

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