Page 66 - MemoriaER-Eng

SCIENTIFIC ACTIVITY

• The documentary “Raras pero no invisibles” (Rare but not invisible), put together
Other
by the scientific dissemination production company from Malaga, Sombradoble,
Activities
with funding obtained by means of crowdfunding, can be seen on the Internet
free of charge. It lasts for one hour and was made with the collaboration of the

following doctors at CIBERER: Francesc Palau, Lluís Montoliu, Pablo Lapunzina,

Carmen Ayuso, José María Millán and Francisca Sánchez. Investigators working
with and patients suffering from rare diseases offer their testimonies. The objecti-

ve of the sponsors of “Raras pero no invisibles” is to make the Spanish population
more sensitive to patients suffering rare diseases and to provide information about

some of the research being conducted.

https://www.youtube.com/watch?v= e4UwCIRhY&feature=youtu.be

• Investigators from the Universidad de Valencia published the report “Enfermeda-

des minoritarias. Solos somos pocos, juntos somos muchísimos” (Rare Diseases:

Alone there are just a few of us, united we are many), disseminating the concept,
importance and characteristics of diseases with a low prevalence, in addition to

the problems of living with one of these pathologies. Dr. Federico Pallardó, Group

Leader of CIBERER U733, participated in preparing this report.

Service for CIBERER/Orphanet receives a large number of queries which we try to respond to pro-
vide guidance to patients in searching for the possible answers to the questions they
handling
are asking. To that end we have the immeasurable help of CIBERER investigators and
queries by
clinicians and of the Orphanet Scientific Committee members as well as the FEDER Pa-
patients and tient Information Service and Guidance, SIO.

professionals
The number of queries received in 2013 is the following:

Year
No. Queries by Patients
No. Queries by Professionals

2010
44
8

2011
84
27

2012
132
22

2013
130
23

As regards the type of RD, the origin or the receiving channel, the following types of

queries were handled this year specifically:

• The queries made covered 120 different RD.

• Origin: 30% from Latin America; 65% from Spain and 5% from the rest of Europe.
13
• 20
Receiving channel: 50% through Orphanet, the rest through consultas@, info@, T
telephone calls and known contacts.
R
PO
E
L R
As regards the help in resolving queries:
A
NU
N
• 45% through Orphanet Scientific Committee members or through the Orphanet A
/
database.
ER
ER
• 50% with the help of CIBERER investigators, highlighting the participation of the B
CI
following units: U753, U722, U724, U747, U714, U737, U703, U723, U704 and
U755, among others.
66
• 5% with the collaboration of the SIO.