Webinar 7: October 14th, 12.00-13.00 (SAST/CEST)

First talk:- Dynamic HPV infections in young women

Speaker: Prof. Dr. Lenine Liebenberg (Centre for Epidemic Response and Innovation, Stellenbosch University)

Abstract: Cervical cancer is a significant public health concern in southern Africa, with double the incidence and triple the mortality compared to other regions. Human papillomaviruses (HPV) cause most cases and are also linked to a higher risk of HIV acquisition. Over 40 HPV types infect the human genital tract, with 12-20 classified as oncogenic or high-risk. While vaccines can prevent infection by certain HPV types, vaccination programmes have limited population coverage, and the current vaccines may not prevent common region-specific oncogenic HPVs. This seminar discusses the dynamics of HPV infection in women and how understanding the biological contributors to HPV clearance, persistence, and acquisition can drive the design of therapeutics, new vaccines, and even alternative strategies to prevent other STIs.

Second talk:- Unraveling undiagnosed rare disease families by HiFi long-read genome sequencing

Speaker: Dr. Lydia Sagath (Department of Human Genetics, Radboud University medical center)

Abstract: Solve-RD is a pan-European rare disease (RD) research program that aims to identify disease-causing genetic variants in previously undiagnosed RD families. We utilized 10-fold coverage HiFi long-read sequencing (LRS) for detecting causative structural variants (SVs), single nucleotide variants (SNVs), insertion-deletions (InDels), and short tandem repeat (STR) expansions in extensively studied RD families without a clear molecular diagnosis. Our cohort includes 293 individuals from 114 genetically undiagnosed RD families selected by European Rare Disease network (ERN) experts. Of these, 21 families were affected by so-called ‘unsolvable’ syndromes for which genetic causes remain unknown, and 93 families with at least one individual affected by a rare neurological, neuromuscular, or epilepsy disorder without genetic diagnosis despite extensive prior testing.

Clinical interpretation and orthogonal validation of variants in known disease genes yielded thirteen novel genetic diagnoses due to de novo and rare inherited SNVs, InDels, SVs, and STR expansions. In an additional four families, we identified a candidate disease-causing SV affecting several genes including a MCF2/FGF13 fusion and PSMA3 deletion. However, no common genetic cause was identified in any of the ‘unsolvable’ syndromes. Taken together, we found (likely) disease-causing genetic variants in 13.0% of previously unsolved families and additional candidate disease-causing SVs in another 4.3% of these families.

In conclusion, our results demonstrate the added value of HiFi long-read genome sequencing in undiagnosed rare diseases

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