The work of Dr. Rosa Barrio, Chair of PROTEOSTASIS, in the field of rare diseases was recognized by the Spanish foundation “FUNDACIÓN INOCENTE INOCENTE”. This foundation aims to support activities that promote the quality of life of children facing different health, social and economic problems. In this framework, the foundation launches an annual call to support those excellent research projects in the field of children rare diseases.

The project led by the laboratory of Dr. Barrio at CIC bioGUNE focuses on the role of SALL1 in the Townes-Brocks syndrome (TBS). TBS is an autosomal dominant disease involving the mutation of the gene SALL1, which encodes a transcriptional repressor. The clinical features of TBS overlap with VATER and VACTERL associations, oculo-auriculo-vertebral (OAV) spectrum, branchio-oto-renal (BOR) syndrome, and Fanconi anemia and other ‘anus-hand-ear’ syndromes.

The work of Dr. Barrio lab was considered an excellent and innovative approach to the study of TBS with potential clinical applications. The awardees event took place on the 19th of October 2017 at the headquarters of the Spanish Ministry of Health, Social Services and Equality.

Further information on the event and other awardees available at: http://www.inocente.com/fundacion-inocente-inocente-entrega-300-000e-en-ayudas-a-proyectos-de-investigacion-de-enfermedades-raras-infantiles/

News in the national media: http://www.rtve.es/rtve/20171019/fundacion-inocente-entrega-fondos-recaudados-gala-1-investigacion-enfermedades-raras/1629211.shtml

Further information on the event and other awardees available at: http://www.inocente.com/fundacion-inocente-inocente-entrega-300-000e-en-ayudas-a-proyectos-de-investigacion-de-enfermedades-raras-infantiles/