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The genetic confirmation from the same cardboard of the Guthrie heel prick test, after a first positive biochemical result, is a clear advantage for both doctor and family.
Congenital errors of metabolism (ECM) are a heterogeneous group of diseases of genetic origin that, individually, are classified as rare diseases because of their low population frequency (<1 / 10,000) but which together affect 1 of every 1,000- 1,500 neonates.
This group of diseases has two characteristics that make them especially interesting to be subject to an early diagnosis: their consequences are very serious for patients, and there a treatment is available, which the sooner it is applied, the better the results. This project aims to improve diagnostic methods by means of objective data generationusing NGS, offering a subsequent confirmatory (genetic) test for routine genetic analysis in the neonatal screening programmes of each autonomous region.
qGenomics coordinates the WP4 of the AMMIC project, the objective of which is the improvement in the diagnosis and monitoring of rare tumors based on the (epi) genomic study of tumor DNA and its traces that are circulating in the blood of patients.
The collaborative project AMMIC (standing for Accelerator in Rare Diseases of Catalonia for its initials in Catalan), in which VHIR and companies like Aromics and ANILING also participate, is promoted in order to face the difficulties of developing treatments and therapeutic solutions in the field of rare diseases.
The ultimate goal is the development of new drugs and therapeutic solutions for the treatment of minority diseases.The different companies and research groups, dedicate their efforts from the stages of discovery of new molecules to the first stages of clinical efficacy studies, going through the development of genetic and epigenetic analytical tools as well as new screening platforms, which can be used as tools for the research and development of new therapies and / or are applied in the clinical environment for the benefit of the patient.
15,000+ annotated hamster genes
100,000+ ESTs new and pending annotation
Expression microarray in 4x180K format
Before a new food can be considered “functional” and used as such in humans, the European regulatory authority (EFSA), requires that its utility is tested in model organisms. Often, and despite the similarity with humans, the common model organisms (rat, mouse, rabbit, …) do not share the same key mechanisms for the metabolization of certain foods with humans and are therefore not useful models for the performance of these studies.
This is what happens with the lipid metabolism in most rodents … rats and mice, are not good models for the study of new compounds that help to reduce the levels of “cholesterol” in blood, for example. The ‘HAMGEN’ project, developed in collaboration with the Center Tecnològic de Nutrició i Salut (CTNS) and co-funded by the CDTI, aims to annotate the transcriptome of the Syrian golden hamster (Mesocricetus auratus), in order to develop an expression microarray that allows the global study of genes during the efficacy studies of different functional foods, which are carried out using this animal model.
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