Identification of new causative genes for congenital hypothyroidism

Objective

Congenital hypothyroidism (CH) is the most common neonatal metabolic disorder and, if untreated, results in severe neuro-developmental impairment and infertility. CH is genetically heterogeneous and causative genes identified so far account only for a minority of cases. Therefore many genes causing CH still remain unknown. This project aims to identify new causative genes for CH by combining autozygosity mapping and positional-candidate gene cloning strategies. For this purpose we have already assembled a large cohort of consanguineous families with CH and to achieve the goals of this project we plan to execute the following studies on the samples collected: i) the exclusion of known causative-loci by linkage analysis; ii) genome-wide linkage scan and autozygosity mapping studies for the determination of novel loci in families not linked to any known-locus; iii) direct sequencing and mutation analysis of novel candidate genes in newly mapped regions. State-of-the-art laboratory technologies such as high resolution SNP arrays and high-throughput sequencing will be exploited for the execution of tasks. Our initial results indicated that our cohort includes several families suitable for mapping novel loci and genes for CH. Identification of new CH genes through this study would enhance the diagnosis and classification of the disease and may provide novel insights into thyroid physiology as well as into molecular mechanisms underlying the disease. This in turn might lead to the development of new diagnostic and management strategies for hypothyroidism. This project meets a relatively new EU aim and focus to increase understanding of rare disease conditions with a potential of leading to new preventive approaches for these diseases. If supported, this fellowship will be a major milestone for the fellow’s transition from clinics to research as well as for establishing himself in an emerging field.

Fields of science (EuroSciVoc)

CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques. See: The European Science Vocabulary.

• engineering and technology medical engineering medical laboratory technology
• natural sciences biological sciences genetics mutation
• medical and health sciences basic medicine physiology

Programme(s)

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• FP7-PEOPLE - Specific programme "People" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013)

Topic(s)

Calls for proposals are divided into topics. A topic defines a specific subject or area for which applicants can submit proposals. The description of a topic comprises its specific scope and the expected impact of the funded project.

• FP7-PEOPLE-2009-IEF - Marie Curie Action: "Intra-European Fellowships for Career Development"

Call for proposal

Procedure for inviting applicants to submit project proposals, with the aim of receiving EU funding.

FP7-PEOPLE-2009-IEF
See other projects for this call

Funding Scheme

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MC-IEF - Intra-European Fellowships (IEF)

Coordinator