Page 40 - MemoriaER-Eng

HORIZONTAL PROGRAMMES

• Launch and maintenance of the Rare Disease Registry of the Rare Disease Research
Institute (IIER-ISCIII), coordinator: Dr. Posada (U758). Result of an Intramural

project that started in 2009, with the participation of other CIBERER groups: U711
(Dr. Carracedo), U714 (Dr. del Río), U747 (Dr. Webb), U752 (Dr. Giraldo) and U754

(Dr. López-Trascasa).

• Maintenance of the Fanconi anemia Database, coordinators: Dr. Surrallés (U745)

and Dr. Bueren (U710), (together with the National Oncological Research Centre-
CNIO Foundation and the Environmental and Technological Research Centre-

CIEMAT).

• E-IMD European registry and network for Intoxication type Metabolic

Diseases. E-IMD is an on-going project of DG-SANCO to create a metabolic rare
disease online registry. Led by Dr. Ugarte (U746) with the participation of Dr. Artuch

(U703), Dr. Ribes (U737) and Dr. Rubio (U739).

• E-HOD European network and registry for homocystinurias and methylation

defects (E-HOD). E-HOD is an on-going project of DG-SANCO to create an online
registry of homocystinuria and other diseases caused by methylation defects. Led
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by Dr. Couce (U737) with the participation of Dr. Artuch (U703), Dr. Grinberg (U720)
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and Dr. Prez (U746).
í
• European Registry of Wolfram, Alström and Bardet-Biedl and other Rare
Diabetes Syndromes
,a project funded by the DG-SANCO call for proposals for
standardizing genetic and clinical data and developing new diagnostic methods. Led í

by Dr. Nunes (U730) (together with the Bellvitge Biomedical Research Institute and
the University of Vigo).
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• aHUS/C3g registry: Registry of patients with atypical uremic hemolytic syndrome
and C3 glomerulopathies. Together with the “Iñigo Álvarez de Toledo” Renal Foundation
í
and Dr. Rodrguez de Crdoba’s group (U738)-CSIC.

• Glycogen storage disease type V registry: Dr. Antoni Andreu (U701) and Dr.

Miguel ngel Martn (U723) have put together a multicentre research team that has
prepared a registry with the 239 diagnosed cases in Spain of glycogen storage disease

type V, also known as McArdle disease. The phenotype data of this registry, published
in the Journal of Neurology, Neurosurgery & Psychiatry, show that symptoms of

intolerance to physical exercise increase with age, but are milder in those who have

the disease and are physically active.

In summary, updating RD registries is one of the translation activities with the most long-

term added value because it allows knowing the epidemiology of these pathologies, This í
knowledge is biased, however, due to the low prevalence of RD.

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Other translational activities: Participation in encounters and meetings 20
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with patient associations
R
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A number of CIBERER groups have participated in encounters and meetings with patient E
L R
associations, such as:
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NU
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• The association of aid for people with albinism, ALBA, organized its 7th Informative /
ER
Conference on April 4, 6 and 7 in Huelva. Dr. Llus Montoliu (U756), member ER
and active collaborator of the association, participated in the encounter. This 7th B
CI
Informative Conference was dedicated to “Albinism and Sports”, and the University
of Huelva, the Virgen del Roco Private Teaching Centre, and many other people and
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entities who selflessly participated and cooperating in turning the meeting into a