M. Kurki

Generalizability of proteomic risk prediction across biobanks reveals dependence on phenotype definitions

Advances in high-throughput proteomics technologies have enabled the assessment of dynamic health states across biobank-scale cohorts. Disease prediction models built on these data have higher accuracy than baseline clinical models for a broad range of diseases, and provide avenues to understand disease pathogenesis. H...

Population-scale immune multiome atlas reveals regulatory disease mechanisms.

PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal cultures

It is demonstrated that downregulation of PLCG2, primarily in neurons, impairs synaptic function and elevates amyloid-β levels and Tau protein phosphorylation in neurons.

INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability

The discovery of a family with six affected members carrying a heterozygous loss- of-function variant in INTS6 highlights the critical role of INTS6 in transcriptional regulation of human neurodevelopment and reinforces its association with NDDs.