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success, all helped. Sports were used at the conference as a meeting point to
approach the visual impairment, training, education and health of people with

albinism.

• CIBERER (U753) collaborated in the Scientific Conference on 22q11 for

Parents and Professionals, held at Hospital Universitario La Paz de Madrid on
May 11. Specialists from various disciplines will speak about the molecular aspects

of this rare disease, psychomotor development and learning, psychiatric problems
associated with the syndrome or speech, heart or immune system anomalies.

Investigators, healthcare practitioners and family members of patients with the

disease attended the conference.

• Sant Pau Hospital de Barcelona hosted a meeting of spinal muscular atrophy
investigators from all over Spain organized by CIBERER U705 on May 30.

Representatives of Units 702, 703, 728 and 755, in addition to 14 other research

groups and members of the charitable foundation called FUNDAME, the foundation á
of families and patients that support research, all attended. In this encounter, a

briefing was given about the GENAME project («Defining targets for therapeutic in

SMA»), discussing the different publications and doctoral dissertation given, and
the perspectives of new collaborations in the diagnosis, translational research and

treatment of this disease.

• Dr. Jordi Surrallés, of CIBERER U745-Universidad Autónoma de Barcelona (UAB),

and Dr. Juan Bueren, of U710-CIEMAT, organized the 14th meeting of the
National Fanconi Anemia Network at the UAB on June 19. About 60 people

attended, including family members of patients, medical specialists and basic à

investigators. Two parallel meetings were held in the morning: on one hand, á
family members got together to talk about their respective experiences, and the

doctors and basic investigators got together in another different room. During the
afternoon session, a joint meeting was held in which family members could ask

the specialists the questions they were most interested in.

• Conference on advancements in the diagnosis, research and therapy of

hereditary hypoacusis organized by Dr. Miguel Ángel Moreno (U728 CIBERER) é
in collaboration with Isabel Varela-Nieto (U761) and José María Millán (U755),
Á
at the University of Alcal de Henares on September 10. Representatives of the í

patient associations called FIAPAS and CLAVE also participated in this event.
At this conference, patients and professional were informed of the most recent

advancements in the genetic diagnosis of this pathology by means of last-

generation technologies (massive sequencing and microarrays) and the study í
of the mechanisms of pathogenesis involved as a basis for developing therapies.

• Informative meeting about the pathologies associated with Fragile X

Syndrome premutation, held on September 29 in Madrid. It was organized
13
by Dr. Montserrat Mil and Dr. Laia Rodrguez-Revenga, from CIBERER U726. 20
Different diagnostic and treatment aspects and recent research were discussed T
OR
in this encounter with patients and family members. This meeting is comprised P
within an intramural programme of the CIBERER.
RE
L
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• 1st National Encounter of Families with Children with Mitochondrial NU
Disease, held in the CREER of Burgos November 13-17, with the participation N
A
of Dr. Julio Montoya (U727), Dr. Miguel ngel Martn (U723), Dr. Jos Antonio R /
Snchez (U729) and Dr. Cecilia Jimnez-Mallebrera (U703). Lectures about E
ER
mitochondrial diseases and the research being conducted on them were given in B
CI
this encounter. Several lectures also related to rehabilitation, orthopedics, music
therapy and therapy with dogs.
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