The heads of IMPaCT-GENóMICA presented the milestones achieved in the first year of work and the actions planned in an information day on this program. The recording of the conference is available at this link.
“From the genomics pillar of IMPaCT, we must be able to offer a diagnosis to patients and their families once all clinically possible efforts have been made,” summarized Cristóbal Belda, director of the ISCIII, at the inauguration of this online conference held on Friday, July 1, to which 725 professionals registered. patients and family members.
For his part, Juan Carrión, president of FEDER, emphasised the great impact that the delay in diagnosis has on those affected by rare diseases. “The people behind IMPaCT are key to having a more hopeful future,” he said.
Ángel Carracedo, group leader of the U711 CIBERER and coordinator of IMPaCT-GENóMICA, 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 based on technologies in the field of research”. These capacities, Carracedo explained, “will contribute to the diagnosis of rare diseases and other undiagnosed diseases in coordination with the healthcare structures of the NHS and the Ministry of Health”.
The day concluded with a round table on milestones achieved and future actions of IMPaCT-GENóMICA in which Carmen Ayuso, coordinator of the ethical, legal and social implications (ELSI) working group, Ivo Gut, coordinator of the network of genomic analysis centers, Pablo Lapunzina, head of the translation group to clinical practice in rare diseases, Gabriel Capellá, head of the group on translation to clinical practice in cancer, and Adrián Llerena, head of the working group on translation to clinical practice in pharmacogenomics and population genomics.
Marta Puyol, director of Biomedical Research of the Spanish Association Against Cancer (AECC), also spoke at the conference.