All too often, genomic testing in patients with undiagnosed disorders results in the finding of variants of unknown significance (VUS). This leaves the health-care provider and patient in a quandary, not knowing whether that variant is disease causing or not. On this month’s GenePod, Bekim Sadikovic, PhD, director of the Clinical Genomic Center and head of the molecular diagnostics program at Canada’s Western University, discusses the implementation of genomic DNA methylation testing in patients with rare disorders – a diagnostic tool that may help sort out the impact of VUS by identifying the signals of DNA methylation.

Related Article Title: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
https://www.nature.com/articles/s41436-020-01096-4

Genepod - The implementation of clinical genomic DNA methylation testing...

Systemic lupus erythematosus (SLE) causes significant long-term morbidity and mortality, particularly in children. There is some evidence that the innate immune system, in particular neutrophil activity, can be compromised in adult-onset lupus. Yet there is a paucity of data on neutrophil activity in pediatric SLE. 

This month on Pediapod, we join Early Career Investigator, Rakesh Kumar Pilania, an assistant professor at the postgraduate Institute of Medical Education and Research in Chandigarh, India to discuss his study of neutrophil activity in patients with pediatric SLE and what it reveals about the etiology of this condition.

Read the full article here: https://www.nature.com/articles/s41390-022-02055-2

Neutrophil function in pediatric lupus.

Welcome to the Springer Nature Soundcloud page! Here you will find several podcasts from our journals across a range of scientific subjects, including Gene Pod, ModPath Chat, Pediapod, Hereditypod and Brainpod.