Publications by authors named "S Van der Auwera"
Background: Accurate diagnosis of bipolar disorder (BPD) is difficult in clinical practice, with an average delay between symptom onset and diagnosis of about 7 years. A depressive episode often precedes the first manic episode, making it difficult to distinguish BPD from unipolar major depressive disorder (MDD).
Aims: We use genome-wide association analyses (GWAS) to identify differential genetic factors and to develop predictors based on polygenic risk scores (PRS) that may aid early differential diagnosis.
Article Synopsis
- - White matter hyperintensities indicate damage in the brain's white matter, which can lead to brain shrinkage and is linked to dementia; a study of over 51,000 people found that larger volumes of these hyperintensities correspond to thinner brain cortex.
- - Researchers identified 20 significant genetic loci related to white matter hyperintensities that affect genes involved in brain cell types known to support vascular health and neuronal function; some of these genes play roles in processes like axonal structure and transport within the brain.
- - The genetic traits tied to white matter issues were linked to cardiovascular health, neurodegeneration markers, and poorer cognitive performance, with a polygenic risk score effectively predicting dementia risk in a separate large
Circulating miRNAs modulating systemic low-grade inflammation and affecting neurodegeneration.
Prog Neuropsychopharmacol Biol Psychiatry
December 2024
Objective And Design: Inflammatory processes are an important part of the etiology of many chronic diseases across various medical domains, including neurodegeneration. Understanding their regulation on the molecular level represents a major challenge. Regulatory microRNAs (miRNAs), have been recognized for their role in post-transcriptionally modulating immune-related pathways serving as biomarkers for numerous diseases.
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- The study tackles the challenges of understanding major depressive disorder (MDD) by examining multimorbidities to identify specific subtypes influenced by genetic and non-genetic factors.
- The researchers analyzed data from 1.2 million individuals across the UK, Finland, and Spain, using dynamic Bayesian network approaches to discover seven distinct clusters of disease burdens linked to MDD.
- Findings highlight the importance of inflammatory processes and suggest that personalized treatments for MDD could be developed based on the unique profiles of patients' genetic and clinical risk factors.
Telomere shortening is a prominent hallmark of aging and is emerging as a characteristic feature of Myelodysplastic Syndromes (MDS) and Idiopathic Pulmonary Fibrosis (IPF). Optimal telomerase activity prevents progressive shortening of telomeres that triggers DNA damage responses. However, the upstream regulation of telomerase holoenzyme components remains poorly defined.
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