{"id":4612,"date":"2022-11-16T15:02:36","date_gmt":"2022-11-16T14:02:36","guid":{"rendered":"https:\/\/impact.isciii.es\/podcast-they-explain-the-work-of-the-impact-genomics-program-in-the-diagnosis-of-rare-diseases\/"},"modified":"2024-09-27T11:07:14","modified_gmt":"2024-09-27T09:07:14","slug":"podcast-they-explain-the-work-of-the-impact-genomics-program-in-the-diagnosis-of-rare-diseases","status":"publish","type":"post","link":"https:\/\/impact.isciii.es\/en\/podcast-they-explain-the-work-of-the-impact-genomics-program-in-the-diagnosis-of-rare-diseases\/","title":{"rendered":"Podcast: they explain the work of the IMPaCT-Genomics program in the diagnosis of rare diseases"},"content":{"rendered":"\n

Beatriz Sobrino<\/strong>, researcher at the Galician Public Foundation for Genomic Medicine (FPGMX), led by \u00c1ngel Carracedo, explained the work of the IMPaCT-GEN\u00f3MICA program in highly complex genetic studies to help people who do not have a diagnosis in a complete interview on the radio program Enfermedades Raras,<\/em> <\/strong>presented by Antonio G. Armas on Libertad FM.\nThe podcast of the interview, broadcast on Tuesday, November 15, is available at this link<\/a>. <\/p>\n\n

“We have created a network of genomic analysis centres coordinated by Ivo Gut<\/strong>, from the CNAG-CRG in Barcelona, to support those patients who have not been diagnosed in the usual circuits of the National Health System”, explained Dr Sobrino.<\/p>\n\n

From this program, they work in 3 different areas: rare diseases,<\/strong> cancer and pharmacogenomics.\nThe area of rare diseases, coordinated by Pablo Lapunzina<\/strong>, scientific director of CIBERER, is going to select 2000 patients<\/strong> equitably among the Autonomous Communities to carry out genome sequencing. <\/p>\n\n

The program addresses those cases that have not been resolved from the healthcare clinic after exome studies.\nIn those cases where it is possible, a new analysis of these exomes<\/strong> is being carried out.\n“We have reanalysed 400 exomes,” Beatriz Sobrino specified, “and we have achieved a 15% diagnosis rate<\/strong>“. <\/p>\n\n

In IMPaCT-GEN\u00f3MICA, genome sequencing<\/strong> is carried out, which allows the study of all those regions that are not part of the 1% that constitutes the exome.<\/strong><\/p>\n\n

About 100 hospitals from all the Autonomous Communities<\/strong> and more than 300 direct collaborators <\/strong>participate in this program and 20 working groups have been set up to cover all the needs of the program.\n“It is really gratifying,” concluded Dr. Sobrino, “to see everyone’s effort for a common goal, which is to organize genomics at the national level.”<\/em><\/strong> <\/p>\n\n