Webinar 15: September 8th, 12.00-13.00 (SAST/CEST)
First talk:- Biomarker research in the neurodegenerative disease Spinocerebellar Ataxia Type 3
Speaker: Prof. Dr. Jeannette Hübener-Schmid
Abstract: Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease (MJD) is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin-3 gene. Although no curative therapy is yet available, preclinical gene-silencing approaches to reduce polyglutamine (polyQ; CAG encodes for the animo acid glutamine) toxicity demonstrate promising results. In view of upcoming clinical trials, quantitative and easily accessible molecular markers are of critical importance as pharmacodynamic and particularly as target engagement markers. Using the largest, highly standardized European SCA3/MJD cohort ESMI (European Spinocerebellar Ataxia Type 3/Machado Joseph Disease Initiative) we aim to identify new (blood-based) molecular biomarker using RNA Sequencing and developing ultra-sensitive techniques to measure very low amounts of the disease protein in cerebrospinal fluid and blood. This will help to evaluate potential read-out parameter for further clinical trials.
Second talk:- Investigation of the 2024 febrile illness outbreak in Panzi, DRC using novel metagenomics approaches
Speaker: Jean Claude Makangara
Abstract: In late 2024, an outbreak of febrile illness occurred in Panzi Health Zone, in the southwest of the Democratic Republic of the Congo. Clinical manifestations included fever, cough, often associated with anemia, and a high mortality rate. This outbreak raised significant public health concerns, necessitating urgent laboratory investigation. Working on novel metagenomics (mNGS) methods, I was invited to support the local response team in the investigation. In December 2024, a multidisciplinary laboratory team was deployed to Panzi to conduct clinical and epidemiological investigations and to collect samples for the outbreak etiological identification. While assisting the team remotely, we conducted laboratory analyses of patient samples, including malaria rapid diagnostic tests, multiplex real-time polymerase chain reaction (qPCR) targeting known pathogens, and mNGS analysis to screen for potential novel or divergent pathogens. The results revealed a high burden of Plasmodium falciparum (51.8%), with co-infections of influenza A(H1N1)pdm09 and SARS-CoV-2 in an area with prevalent malnutrition. To further explore potential etiologies and to train the local team in Kinshasa on novel mNGS approaches (called eSISPA), we retrospectively applied long-read mNGS using non-ribosomal primers and sample pretreatment to increase pathogen detection sensitivity by depleting host-derived nucleic acids (NA). Results were compared to those obtained using existing long-read mNGS methods (standard SISPA). The eSISPA improved host NA depletion and enhanced detection of diverse bacteria and eukaryotes. However, the standard SISPA results were more consistent with qPCR-confirmed pathogens compared to eSISPA, a discrepancy mostly related to sample quality. Our results highlight the value of integrated molecular and metagenomic approaches for outbreak investigation and underscore the need for decentralized laboratory capacity and protocol optimization to improve preparedness.
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