Page 85 - MemoriaCIBER2019-ENG

CIBERER 85
It has also been shown that an active substance present in green tea improves the cognitive functioning of people with fragile X syndrome in a collaborative study coordinated by the group led by Cristina Fillat with the participation of groups from other thematic areas of CIBER (CIBEROBN and CIBERSAM).
Furthermore, there are numerous individual publications of the groups within this line, described in more detail in the section of each group.
In addition, CIBERER has contributed to the training of health professionals and that of the general population throu- gh the organisation of various hospital sessions under the auspices of this Research Programme. It has also colla- borated in training patients in the context of the second EURORDIS Summer School in Spanish, held in Castelldefels, Barcelona from June 10 to 16, with training on the diagnostic process at an informative level.
Also worth noting is the recognition by FEDER (Spanish Federation of Rare Diseases) of the networking carried out by the Paediatric Institute of Rare Diseases (IPER) of the Sant Joan de Déu Hospital in Barcelona, coordinated by Francesc Palau.
Sensorineural Pathology Programme
Coordinator: Lluis Montoliu José
In 2019, the 7 groups that make up the Programme have obtained important scientific, dissemination and collabora-
tion results with patient associations, both independently and in collaboration with other CIBERER groups.
At a scientific level, the development of new cell and animal models and RD therapies stand out with the publication in EMBO Molecular Medicine by Paola Bovolenta on a mouse model for the study of Bosch-Boonstra-Schaaf syndro- me; José María Millán’s publication in Experimental and Molecular Medicine, where they demonstrate that metfor- min alleviates the motor and neuropsychiatric symptoms of Huntington’s disease in mice, and the publications of Isabel Varela-Nieto in FASEB Journal and ELife exploring the relationship between nutrition and hearing loss, or the role of DUSP1 phosphatase in hearing and aging, respectively.
Marta Cortón’s research project, from the group led by Carmen Ayuso, applies diagnostic tools to the genetic charac- terisation of aniridia through genomic and experimental studies.
In 2019, all the groups in the programme participated in intramural projects and in five Working Groups (GdT), two of them coordinated by researchers from the Research Programme: “Genomic editing and gene therapy” led by Almu- dena Fernández, from Lluís Montoliu’s group, and “Animal Models of human diseases” led by Silvia Murillo, from the laboratory of Isabel Varela-Nieto. The latter has published an informative video on the benefits of the responsible use of animals in research on rare diseases.
Events organised:
- II Practical Course on “Genomic Editing and Gene Therapy” July 1-2 at the National Centre for Biotechno- logy (CSIC), coordinated by Almudena Fernández, Óscar Quintana and Matías Morín.
- II Course on “Bioinformatic analysis of massive sequencing data applied to genetic diagnosis and trans- lational research” held September 30 to October 9 at the Hospital Ramón y Cajal, coordinated by Miguel Ángel Moreno and Matías Morín.
- “III Conference on the Human Genome” organised by Miguel Ángel Moreno on November 13 at the Hospi- tal Ramón y Cajal.
Isabel Varela-Nieto has been awarded the Morgagni Medal from the University of Padua (Italy) for her professional career in the study of hearing; Gemma Marfany has received the VI Distinction from the Faculty of Doctors and the Social Council of the University of Barcelona, for her activities in scientific dissemination; and Lluís Montoliu received the Scientific Dissemination Award from the Antama Foundation and the 12th ISTT Award from the International Society of Transgenic Technologies.