Immune System
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Investigating autoimmune pathogenicity of single nucleotide polymorphism -linked truncated variants of TSH-receptor gene in Graves’ disease: an approach to applying genetics to personalized medicine

Institution: Klinik für Hals-Nasen-Ohren-Heilkunde, Kopf- und Hals-Chirurgie, Universitätsklinikum Essen
Applicant: PD Dr. Anke Daser
Funding line:
First and Second Applications
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Graves‘ disease (GD) is an autoimmune condition affecting the thyroid gland. Thyroid eye disease (TED) is the associated inflammation of the eye, which leads to a reduction in quality of life. One of the confirmed genes of the disease is the TSHR gene. Small changes in the nucleotide sequence of TSHR gene have been found to play a role, known as SNP´s. More specific the variants ST4 and ST5 could act as main autoantigens. We hypothesize that ST4 and ST5 may be the cause of autoimmunity in GD and that the antigenicity of these variants could act as primary etiologic agents in the pathogenesis. We plan to test this in our established preclinical mouse model. It will improve our understanding of autoimmunity in GD and will enable the application of precision medicine for targeted therapies.

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