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THRA deficiency and Allan-Herndon-Dudley-Syndrome: Defects of local TH function during human brain development (P06)

Subject Area Pediatric and Adolescent Medicine
Term from 2020 to 2024
Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 424957847
 
Local TH action in the brain can be disturbed by mutations in either local transport (MCT8) or receptor proteins (THRA). This project strives to increase the diagnostic yield for both defects by using the serum fT3/fT4-ratio as a more sophisticated screening parameter. Furthermore, we will explore how both genes are regulated on the genomic level. This will enable us to identify i) patients with non-coding mutations, and ii) patients with milder phenotypes presenting only with a subset of symptoms seen in “classic” MCT8 and THRA deficiencies.
DFG Programme CRC/Transregios
Applicant Institution Universität Duisburg-Essen
 
 

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