Page 24 - CIBERER-2015-eng

Scientific Programmes
Inherited Cancer, Haematological and Dermatological Diseases
2015 was a year in which different groups from this programme went on fronting the develop- ment of new therapies through clinical trials of gene therapy. We should highlight the work coor- dinated by Dr. Bueren’s unit U710 in cooperation with other CIBERER units and with Linked Clinical Groups (Niño Jesús and Vall d’ Hebrón Hospitals) as well as with the Fundación Jiménez Díaz, with which the Unidad Mixta de Terapias Avanzadas was set up. There was also the first Sala GMP Na- cional, approved by the Agencia Española del Me- dicamento y Productos Sanitarios for developing protocols for gene therapy with haematopoietic stem cells. This work has put the group among the world leaders in gene therapy projects in rare diseases affecting blood cells.
As a collaborative project, funded from CIBERER in its call for Translational Research Projects, we should stress the one got under way under the co- ordination of Dr Sevilla (GCV19) “New diagnostic approaches to hereditary syndromes with bone marrow failure for treatment with innovative ther- apies”. Different groups took part in this project, such as Dr Bueren’s U710; unit U745 under Dr Surrallés, Dr Lapunzina’s U753, the U757 led by Dr Perona; Dr Badell’s GCV16, unit GCV17 led by Dr Beléndez and Dr Catalá’s GCV18. This project will allow the integration of clinical information on cases in the same clinical register already de- veloped for Fanconi anaemia. A proposal for an intramural project has also been led: “Drug repur- posing in Fanconi anemia”, which involves groups U710 and U745, to be started up in 2016.
As well as the works taken on in the form of clini- cal trials for treatment of gene therapy of Fanconi anaemia, we should mention the progress made in pyruvate kinase deficiency therapy by means of gene edition in haematopoietic progenitors. This meant definite progress for transfer to the production sector could be established for both pathologies.
In the same line of advanced therapies we can stress the progress made by U757 in the therapy for rescuing telomerase activity and the genetic improvement of products such as nanoparticles and gene therapy vectors for the treatment of dis- eases with telomere shortening.
Lastly, new discoveries of genes associated with rare diseases have been made, such as that of gene MDH2 as cause for familial Paraganglioma (U706) and work has gone on in the description of the imbrication of genetic instability syndromes such as Fanconi anaemia and different types of cancer, such as breast and inherited colon cancer.
24 I Annual report 2015 I CIBERER