CRC/Transregio TRR 296 LocoTact, Project P06: THRA deficiency and Allan-Herndon-Dudley-Syndrome: Defects of local TH function during human brain development

  • Krude, Heiko (Principal Investigator (PI))
  • Schülke-Gerstenfeld, Markus (Principal Investigator (PI))

Project: DFG ProjectsDFG Joint Research: Collaborative Research Center/ Transregios

Project Details

Description

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.
StatusActive
Effective start/end date01.01.20 → …

UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This project contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

DFG Research Classification Scheme

  • 205-17 Endocrinology, Diabetology, Metabolism