Pediatric specialist and University of Turku adjunct professor Jukka Kero and his research group have spent years building a cohesive knowledge base of this rare disease to assess its prevalence, genetic background, and the effects of early treatment.
At the core of the group’s work is understanding why the prevalence and genetic profiles of congenital hypothyroidism vary, what subtypes of the disease can be identified, and how early diagnostics can be ensured. His research is based on extensive registry data and systematic analysis of patient records. Kero will present key findings from his research and explain why unified health data is essential for reliable analysis at the Hippo Clinic event on 26 February 2026 at Terkko Health Hub.
“Today, collecting patient records is slow and complex. Each registry holder or health and social care region where a patient has been treated must be contacted in writing via a letter sent by post. The same process applies to relatives who have consented to participate if the gene in question is being studied in the family. Paper documents arrive at different times, and they must be processed and legally archived in the research archive, which causes delays, administrative work, and significant costs,” Kero explains.
For rare diseases, the problem is not the scarcity of data but the fact that information is stored in various registries and across care regions. As the cohort expands dynamically during the research, the data of each new patient must be located and verified separately from multiple sources. This slows down especially genetic subtype analyses and makes it harder to form a complete overview.
Hippo Clinic Pro offers a critical improvement for Kero’s research: all essential patient information can be reviewed in a single view without separate document requests or additional paper-based records. The solution reduces manual work and shortens the research process significantly.
A unified overview is particularly beneficial in studies where:
Congenital hypothyroidism is rare, but its effects span a lifetime. The data of even one patient may provide a crucial insight into the genetic landscape or treatment response of the disease. Consolidated and up‑to‑date health data gives researchers the ability to:
identify genetic subtypes
assess long‑term treatment effects
Kero emphasizes that progress in research requires above all time, precision, and a coherent data foundation. When information is brought together, researchers can focus on what truly advances the field: deepening the understanding of the disease and developing treatment methods.