Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen
Sami Heikkinen, Valtteri Julkunen, Henna Martiskainen, Mari Takalo, Eino Solje, Ville Leinonen, Annakaisa Haapasalo, Anssi Lipponen, Mikko Hiltunen · 2026
Read Biobank-based genetic characterization of neurodegenerative diseases and idiopathic normal pressure hydrocephalus: insights and lessons learned from FinnGen by Sami Heikkinen, Valtteri Julkunen, Henna Martiskainen, Mari Takalo, Eino Solje, Ville Leinonen, Annakaisa Haapasalo, Anssi Lipponen, Mikko Hiltunen (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13668711.txt.
Description
Sami Heikkinen and eight colleagues published a 2026 paper on genetic studies of brain diseases using the FinnGen biobank in Finland. Diseases such as Alzheimer's disease and frontotemporal dementia arise from progressive degeneration of the brain and are a growing medical and social burden. Large genome studies have found many common risk variants.
The authors note that rare variants, which often have stronger effects, remain poorly characterized. FinnGen links genetic data with health records for a large population, making such variants easier to study. The paper describes genetic characterization of neurodegenerative diseases and of idiopathic normal pressure hydrocephalus, a treatable cause of gait and memory problems. It also shares lessons learned from working at biobank scale.
Catalog record
| CREATOR | Sami Heikkinen, Valtteri Julkunen, Henna Martiskainen, Mari Takalo, Eino Solje, Ville Leinonen, Annakaisa Haapasalo, Anssi Lipponen, Mikko Hiltunen |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 52 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |