A. Palotie

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Bipolar disorder (BD) is highly heritable, yet the contribution of rare coding variation remains incompletely characterized. We analyzed sequencing data from 64,435 individuals with BD and 168,101 controls spanning multiple ancestries and 22 countries, representing the largest and most global sequencing resource with a...

Clinical history shapes the predictive value of polygenic risk

For most diseases, whether PRS improves prediction beyond clinical data remains unknown, as existing evidence is concentrated in a handful of conditions with established risk models. Using 900,000 participants from UK Biobank and FinnGen, we developed and validated models for predicting 150 diseases and all-cause morta...

Genetic and environmental risk factors for intracranial aneurysm and subarachnoid haemorrhage among patients with Autosomal Dominant Polycystic Kidney Disease

Intracranial aneurysms (IA) and their rupture (subarachnoid haemorrhage, SAH) are a rare but serious complication of autosomal dominant polycystic kidney disease (ADPKD). Both genetic and environmental risk factors contribute to the pathogenesis of IA and SAH, but specific information on risk factors in the ADPKD popul...

Population-scale immune multiome atlas reveals regulatory disease mechanisms.

Associations of proteomic and epigenetic aging clocks with Alzheimer's disease phenotypes: An exploratory analysis

The potential of plasma proteomic clocks in detecting AD‐related phenotypes and co‐morbidities possibly constitute confounding factors, compromising the performance of proteomic aging models is illustrated.

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.