Webinar 12: April 14th, 12.00-13.00 (SAST); 12.00-13.00 (CET)

First talk:- Translational Genomics for Diagnosis and Gene Discovery in Rare Diseases

Speaker: PD Dr. Tobias Haack

Abstract: The clinical implementation of next-generation sequencing approaches substantially contributed to improved diagnostic rates and gene discovery in rare diseases. However, at least half of the affected individuals remain without a firm diagnosis after exome sequencing. Current strategies to increase the diagnostic yield include streamlined genome sequencing (GS) and phenotyping, as well as establishing gene-disease associations through cohort-based statistical approaches. We report on the synergy between using short-read GS for diagnosis and etiological discovery in a routine clinical care setting. Furthermore, we determined the diagnostic accuracy of long-read GS and report on the discovery of the molecular correlate of late onset ataxia type 4 (SCA4), which has escaped identification for more than 25 years.

Second talk:- AMR on the move: How wastewater, rivers, and mobile DNA shape environmental resistance

Speaker: Dr. John Paul Makumbi

Abstract: Antimicrobial resistance (AMR) is a growing global crisis, with wastewater treatment plants (WWTPs) and rivers acting as critical reservoirs and dissemination pathways. Here,  we investigate AMR dynamics in urban WWTPs and receiving rivers in South Africa, combining metagenomics, chemical analysis, and extracellular DNA (exDNA) profiling. The findings reveal that WWTPs fail to effectively remove high-risk ARGs, facilitating their spread into downstream environments. Extracellular DNA (exDNA) emerges as a crucial but often overlooked factor in AMR persistence, harbouring mobile resistance genes with the potential to drive horizontal gene transfer. We highlight the need to rethink wastewater treatment, not just as a filtration system for pathogens and chemical contaminants, but also for targeting the 'hidden' drivers of AMR, like extracellular DNA.

Contact Us here to receive notifications about upcoming Genomics for Health in Africa webinars.

Register here for the webinar.