Page 25 - CIBERER2016-ENG

Inherited Cancer, Haematological and Dermatological Diseases
Coordinator: Juan Antonio Bueren
A number of relevant results were accomplished in 2016 by the groups in this programme.
In the aspect of new therapies we could highlight the start of the first clinical test on patients with Fanconi anaemia subtype A by correction with lentiviral vectors of mobilised peripheral blood stem cells and obtaining the designation of two orphan drugs in both Europe and the U.S.A. for treatment of erythrocyte pyruvate kinase deficiency and of leukocyte adhesion deficiency type –I led by Dr. Bueren’s group (U710).
Some important steps have also been taken for developing therapeutic strategies by gene edition for Fanconi anaemia, erythrocyte pyruvate kinase deficiency and recessive dystrophic Epidermolysis Bullosa (RDEB), the latter led by Dr. Marcela del Río’s team (U714).
Dr. Perona’s group (U757) has established an animal model in which idiopathic pulmonary fibrosis has successfully been reverted in preventive and curative protocols, with treatment of nanoparticles charged with GSE4.
In the area more specifically covering biomarkers and diagnosis we should stress the work done by Dr. Fernández-Piqueras’ group (U749) on the demonstration of the functional effect of different mutations in the JAK2 gene contributing to the development of T-cell lymphoblastic lymphoma, indicating the advisability of using NGS and new treatment protocols (Roncero et al. Leukaemia. 2016).
The group headed by Dr. Surrallés (U745) has identified two new components of the Fanconi/BRCA pathway whose mutations cause Fanconi anaemia and a new Fanconi-like syndrome of tumour predisposition. The group led by Dr. Benítez (U706) has identified new variants in the OGG1 gene which affect the risk of cancer in persons carrying mutations in
BRCA1 and BRCA2 ( Benitez-Buelga et al Oncotarget. 2016 May 3;7(18)).
Dr. Pallardó’s group developed the patent “Mass spectrometry-based methods for the detection of circulating histones H3 and H2B in plasma from sepsis or septic shock (SS) patients (European patent EP 16 382 509.4)”, as a new diagnosis and prognosis method.
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Scientific Programmes 25