Publications by authors named "T R Winkler"
Feature Engineering for the Prediction of Scoliosis in 5q-Spinal Muscular Atrophy.
J Cachexia Sarcopenia Muscle
February 2025
Article Synopsis
- 5q-Spinal muscular atrophy (SMA) is a rare disease that can now be treated, presenting new challenges for pediatricians as treatment decisions evolve with disease-modifying therapies.
- A data-driven machine learning approach was used to analyze a dataset of 84 SMA patients, focusing on predicting scoliosis by selecting relevant features through expert knowledge and statistical methods.
- The study identified key predictors like motor function scores, age, weight, and various medical interventions, achieving a prediction accuracy of 82% using a Random Forest Classifier.
Article Synopsis
- Genome-wide association studies (GWAS) have discovered many genetic loci related to diseases, but the influence of age on these genetic effects has been overlooked, and small sample sizes make it hard to study changes over time.
- The study proposes a two-step method that first uses cross-sectional data to identify genetic-by-age interactions and then tests these findings in separate longitudinal data, analyzing traits in a large UK Biobank sample.
- The results show that specific genetic interactions with age are associated with changes in traits like obesity and pulse pressure, revealing the importance of understanding how genetics and age interact to affect health over time.
Purpose: Adult-onset foveomacular vitelliform dystrophy (AFVD) shares phenotypic similarities with age-related macular degeneration (AMD). The genetic factors associated with AFVD are unknown in >80% of cases. This study evaluated the association of known AMD genetic risk variants with AFVD and compared systemic complement activation in these conditions.
View Article and Find Full Text PDFUnderstanding the genetics of kidney function decline, or trait change in general, is hampered by scarce longitudinal data for GWAS (longGWAS) and uncertainty about how to analyze such data. We use longitudinal UK Biobank data for creatinine-based estimated glomerular filtration rate from 348,275 individuals to search for genetic variants associated with eGFR-decline. This search was performed both among 595 variants previously associated with eGFR in cross-sectional GWAS and genome-wide.
View Article and Find Full Text PDFArticle Synopsis
- The germinal center (GC) reaction plays a vital role in the immune response by facilitating somatic hypermutation and the selection of high-affinity B cells, making the understanding of B cell gene functions essential.
- Traditional methods for studying B cell genes, like generating knock-out mice, are complex and time-consuming, but CRISPR technology has offered a more straightforward alternative, though it still faces challenges related to cost and efficiency.
- The authors developed a new CRISPR-Cas9 method for studying B cell gene functions that is quick and cost-effective, using adoptively transferred edited B cells to investigate gene roles, exemplified by examining the pro-apoptotic gene Fas in the GC selection process.