{"id":4627,"date":"2022-07-04T15:00:09","date_gmt":"2022-07-04T13:00:09","guid":{"rendered":"https:\/\/impact.isciii.es\/the-recording-of-the-information-day-on-the-impact-genomics-program-is-available\/"},"modified":"2024-09-27T11:07:17","modified_gmt":"2024-09-27T09:07:17","slug":"the-recording-of-the-information-day-on-the-impact-genomics-program-is-available","status":"publish","type":"post","link":"https:\/\/impact.isciii.es\/en\/the-recording-of-the-information-day-on-the-impact-genomics-program-is-available\/","title":{"rendered":"The recording of the information day on the IMPaCT-Genomics program is available"},"content":{"rendered":"\n

The heads of IMPaCT-GEN\u00f3MICA <\/strong>presented the milestones achieved in the first year of work and the actions planned in an information day on this program.\nThe recording of the conference<\/strong> is available at this link<\/a>. <\/p>\n\n

“From the genomics pillar of IMPaCT,<\/a> we must be able to offer a diagnosis to patients and their families<\/strong> once all clinically possible efforts have been made,” summarized Crist\u00f3bal Belda<\/strong>, director of the ISCIII, at the inauguration of this online<\/em> conference held on Friday, July 1, to which 725 professionals registered. patients and family members.<\/p>\n\n

For his part, Juan Carri\u00f3n<\/strong>, president of FEDER, emphasised the great impact that the delay in diagnosis has on those affected by rare diseases.\n“The people behind IMPaCT are key to having a more hopeful future,” he said. <\/p>\n\n

\u00c1ngel Carracedo<\/strong>, group leader of the U711 CIBERER<\/a> and coordinator of IMPaCT-GEN\u00f3MICA, summarized in his presentation the structure and work carried out in this program, which “promotes the establishment of a cooperative infrastructure distributed in several nodes for the performance of highly complex genetic studies<\/strong> based on technologies in the field of research”.\nThese capacities, Carracedo explained, “will contribute to the diagnosis of rare diseases and other undiagnosed diseases in coordination with the healthcare structures of the NHS<\/strong> and the Ministry of Health”. <\/p>\n\n

The day concluded with a round table on milestones achieved and future actions of IMPaCT-GEN\u00f3MICA in which Carmen Ayuso<\/strong>, coordinator of the ethical, legal and social implications (ELSI) working group, Ivo Gut<\/strong>, coordinator of the network of genomic analysis centers, Pablo Lapunzina<\/strong>, head of the translation group to clinical practice in rare diseases, Gabriel Capell\u00e1<\/strong>, head of the group on translation to clinical practice in cancer, and Adri\u00e1n Llerena<\/strong>, head of the working group on translation to clinical practice in pharmacogenomics and population genomics.<\/p>\n\n

Marta Puyol<\/strong>, director of Biomedical Research of the Spanish Association Against Cancer (AECC), also spoke at the conference.<\/p>\n\n

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