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www.ciberer.es



















Events and Other Activities





In addition to those events and activities already mentioned in previous sections, 
Events
such as the Translation Programme, and those expressly mentioned in the previous á
section, CIBERER has organized another series of highly relevant events on a na- 

tional and international level, among which the following stands out:



• International Symposium: “Mitochondrial diseases”, organized by CI- 

BERER and the Fundación Ramón Areces on May 20 and 21 in Madrid, coordi- 
nated by Dr. Rafael Garesse, Group Leader of CIBERER U717. Discussed topics 

were mitochondrial biology, molecular genetics of OXPHOS diseases, model 
systems for studying mitochondrial diseases or therapeutic approaches. Other 

investigators from various CIBERER units also participated in this event.

• International Symposium: “Intellectual impairment: diagnostic cha- 

llenges in the CgH array and next generation sequencing”, organized ó
by CIBERER and the Fundacin Ramón Areces, on October 3 and 4 in Barcelo- 

na, coordinated by Dr. Montserrat Milà, Group Leader of CIBERER U726. Topics 

discussed included clinical and molecular aspects, advancements in diagnosis, 
early diagnosis and prevention, research, treatment and animal models in 

intellectual impairment.

• CIBERER organized the dissemination conference entitled “Advanced the- 

rapies for the treatment of Rare Diseases”, on October 25 in the Palacio 
Municipal de Congresos in Madrid. The latest progress made in the clinical 

application of advanced therapies was presented at this conference, inclu- 

ding the approach to subjects such as gene therapy in adrenoleukodystro- 
phy, immunodeficiencies, hepatic porphyrias, mucopolysaccharidosis, Fanconi 

anemia, epidermolysis bullosa and rare diseases in general. FEDER repre- 
sentatives also offered the patients’ perspective on advanced therapies. This 
13
conference was held in the context of the joint Conference of the European 20
T 
and Spanish Gene and Cell Therapy Societies.
OR
P
• Organization of the Workshop «Research in genetic rare diseases. A RE
social need» at the local ONCE facilities in Valencia on November 25. Topics L 
A
discussed included genetic and epidemiological research, and the opinion of NU
éN
the agents involved in the rare diseases about clinical research. The organi-  A
zers of this Conference were Dr. Carmen Ayuso (U704) and Dr. Jos María R /
E
Milln (U755).
ER
B
CI


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