Page 87 - MemoriaCIBER2019-ENG

CIBERER 87
Inherited Cancer, Haematological and Dermatological Diseases Programme
Coordinator: Juan Antonio Bueren Roncero
In 2019, the groups of this research programme have continued working towards the IRDIRC objectives. In this sense, scientific events were promoted such as the scientific meeting of the programme, which took place at the IIB-Alberto Sols of the CSIC in Madrid in November, the 3rd forum of patients with red cell anemia due to pyruvate kinase defi- ciency organised in the Fundación Jiménez Díaz in Madrid on May 29, 2019, and the 17th European Meeting on Com- plement in Human Disease also organised in Madrid from September 14 to 17.
Regarding new discoveries applicable in diagnosis, the group led by Mercedes Robledo has identified a new gene in- volved in the development of a rare endocrine tumor. This new gene is involved in the Krebs cycle, DLST, which results in disease when mutated. We have also carried out an archeogenetics study led by researchers from the group led by Vicente Vicente where it has been discovered that a genetic alteration responsible for a rare disease, FXI deficiency, appeared 5,400 years ago and was distributed in different parts of Europe.
As regards therapeutic developments, this year has been quite prolific. We highlight the contributions made by Juan Bueren’s group with the publication of the first results of the clinical trial on gene therapy in patients with Fanconi anemia in which the formation of blood cells of these patients from their own stem cells where the genetic defect has been previously corrected has been demonstrated for the first time; also, the results of preclinical research that has managed to correct the genetic defect in the blood stem cells of patients with Fanconi anemia through a novel way of editing the genome. We also highlight the results of the group led by Rosario Perona which has led a study that has discovered that a small 11 amino acid peptide (GSE4) attenuates the main pathological effects in cells of ataxia telangiectasia patients, and the demonstration by the team of Marcela del Río of the feasibility of a genomic editing strategy for recessive dystrophic epidermolysis bullosa (also known as butterfly skin) with the CRISPR / Cas9 tool in preclinical models of this disease.