Joris Deelen

This study identifies rare genetic variants in the IIS/mTOR pathway in long-lived humans and shows they have shared functional effects on lifespan-related traits in mice.

The paper identifies rare longevity-associated variants, including a cGAS mutation, in long-lived families and shows they reduce inflammation and delay cellular senescence.

This study shows that combining trametinib and rapamycin extends mouse lifespan more than either drug alone and improves health markers in older age.

This paper estimates that the heritability of human lifespan is about 50% when accounting for extrinsic factors and cutoff age effects, challenging the consensus that genetics has a minor role in lifespan.

This study examines how a lifestyle intervention affects the blood transcriptomic and metabolomic responses to a nutrient challenge in elderly individuals.

The paper develops interpretable neural networks for multi-omics data to predict smoking status, age, and LDL levels, showing improved performance and generalizability across cohorts.

This study shows that mutating APRT in turquoise killifish extends male lifespan and improves metabolic health, with mitochondrial function and AMPK activity playing key roles.

The paper identifies two rare variants in the MAPK/ERK pathway from long-lived families and shows they affect signaling and metabolism differently in mouse embryonic stem cells.

This study combines multiple GWAS of ageing traits to identify genetic components associated with human ageing and finds LPA and VCAM1 as potential drug targets.

The paper identifies 818 genes influencing DNA methylation in blood using genetic anchors and causal inference, revealing both transcription factors and non-DNA-binding proteins with regulatory roles.

This study shows that lifestyle interventions reducing abdominal fat are linked to lower circulating glycerol and higher HDL diameter, independent of BMI or overall weight loss.

This paper introduces TWMR, a Mendelian Randomization method that identifies gene-trait associations by integrating GWAS and eQTL data, revealing 3,913 novel associations across 43 human phenotypes.

The paper identifies 49 gene drivers of downstream transcriptional changes using population genomics data and RNA-sequencing from 3,072 individuals.

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.

The paper identifies trans-meQTLs linking disease variants to methylation changes at transcription factor binding sites, revealing eight-fold more downstream effects than trans-eQTLs.

The paper identifies context-dependent eQTLs in peripheral blood RNA-seq data from Dutch individuals using a hypothesis-free approach, revealing gene expression influenced by cell type and signaling pathways.