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full groups led by Susan Webb and Luis Castaño. The project enabled the joint study of collections of clinical cases of what were until now scattered groups to review the classification of this type of adenomas.
One important translation accomplishment deserving mention is the publication of the longitudinal study on growth 1995-2017. This has data for proper evaluation of growth during puberty, modifying clinical conduct, avoiding mistaken diagnoses and unnecessary treatment, preparing a bilingual website www.millennialsgrowth.com and an app for
iOs and Android for the general public as well as an auxological programme for healthcare professionals.
Inherited Cancer, Haematological and Dermatological Diseases
Coordinator:
Juan Antonio Bueren Roncero
In 2018 the groups in this research programme went on working towards IRDIRC objectives. Several scientific events were promoted in this respect, such as the programme’s own scientific meeting, which took place at the IMIBIC in Cordoba in November,the second meeting of the anaemia project of Blackfan Diamond (DBA) at the Hospital Gregorio Marañón, the support for the rare disease session of the 9th Biennial Congress of the Spanish Society for Gene
and Cell Therapy and the organisation of the international symposium on telomeropathies at the Fundación Ramón Areces; here they brought up the lack of curative treatments currently available for telomeropathies, a group of rare diseases whose genetic basis is telomere shortening.
As for new discoveries with application in diagnosis, Jordi Surrallés’s group from the Hospital Sant Pau, has discovered a new gene known as ‘EDC4’ involved in familial
We should also stress the results attained with regard to possible treatments of rare endocrine diseases, such as for example the publication entitled: “A Sobetirome and its Amide Prodrug Sob-AM2 Exert Thyromimetic Actions in Mct8- Deficient Brain. Thyroid. 2018;28(9):1211-1220” by the group led by Ana Guadaño; or the description of the genetic causes of these pathologies and the publication of “Identification of an AR mutation- negative class of androgen insensitivity by determining endogenous AR activity”. Journal
of Clinical Endocrinology and Metabolism. 2016;101(11):4468-4477 by the group led by Antonio Carrascosa.
breast cancer. This gene encodes a protein which interacts with BRCA1 and which plays
a fundamental role in the repair of DNA by
the homologous recombination mechanism. Researchers from the group led by Vicente Vicente at the Instituto Murciano de Biomedicina have studied the biochemical and cellular consequences of a mutation identified in an large family with antithrombin deficiency undergoing a large number of recurrent thromboses.
The group led by Javier Benítez at the CNIO has furthermore identified three new genes for susceptibility to testicular cancer (PLEC, EXO5 and DNAH7) as potential candidates helping to explain the genetic bases of tumours of testicle germinal cells.
With regard to therapeutic developments,
we can stress the designation of gefitinib and afatinibib as orphan drugs for Fanconi anaemia. The studies coordinated by the team led by Jordi Surrallés have shown that this product, currently indicated for lung cancer,could work as a therapy for squamous tumours of the head and neck in patients with Fanconi anaemia. In this same pathology, Juan Bueren, head of the CIEMAT group,presented an anticipation of the results of the clinical trial in stage 1/2 of gene therapy in patients with Fanconi anaemia at
the Congress of the American Gene and Cell Therapy Society held in Chicago.
CIBERER | ANNUAL REPORT 2018