Centre for Genomic Regulation (CRG)
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Director of the Centre for Genomic Regulation and Member of the European Molecular Biology Organisation (EMBO)
Neurobiologist with expertise in Down's syndrome at the Centre for Genomic Regulation
ICREA Research Professor at the Centre for Genomic Regulation and the National Centre for Genomic Analysis (CNAG)
In a series of three articles and a companion article - collected in Nature Biotechonology - Nature publishes the first draft of the human pangenome reference, which contains highly detailed data from 47 genetically diverse individuals. The first human genome was published more than two decades ago but, being from a single person, it does not represent human diversity, whereas the pangenome refers to the gene pool of our entire species. The ultimate goal of the Human Pangenome Reference Consortium project is to include genetic material from 350 people by 2024. It is hoped that this data will allow more clinically relevant genetic variants to be identified.
Researchers have tested a gonadotropin-releasing hormone (GnRH) therapy in mouse models and in males (in a pilot clinical trial) with Down's syndrome. The results, published in the journal Science, suggest improved cognitive function.
The extraordinary plenary session of the Congress of Deputies today approved the reform of the Law on Science, Technology and Innovation. After being passed in the Lower House without any votes against it on 23 June, the bill was approved in the Senate on 20 July with an amendment referring to indefinite-term contracts, which was rejected today in Congress.