Project goal: (i) The primary goal of the project would be to study the genetic basis of congenital hypothyroidism (CH) in the Finnish population. • Identify new genes associated to both familial and sporadic CH in the CH patients recruited from different parts of Finland. • Use the FinnGen database to explore the role and association of the identified genes/gene variants with CH in the wider Finnish population. • Conclude on the most prevalent genes and gene variants that cause CH in Finnish population. • Perform functional studies to investigate the role of new genes/gene variants for example SLC26A7 in disease etiology using cell culture/disease models. • Include the potential new genes to the gene panel used to regularly screen CH patients in a clinical setting. (ii) Explore the potential of clinical intervention. • Potential treatment with iodide for patients with SLC26A7 gene variants. Research Hypothesis: (i) The project would depict the top genes and gene variants causing CH in Finland which, could also be region specific. (ii) There is possibility of identifying new genes that cause CH and exploring the underlying mechanism. (iii) There is potential for enhancing clinical intervention based on genetic background of the patient. The final output of the project would lead to better understanding of the CH genetics, providing better disease management with personalized medical care.

2025

2027