Elvis Twumasi Aboagye delivers a powerful plenary at #WRC2025, chaired by Frederica Partey and Prof. Osbourne Quaye.
He presents on the discovery of a bi-allelic MARVELD2 variant linked to non-syndromic hearing loss in a Ghanaian family. Using whole exome sequencing, his team identified a novel frameshift mutation affecting auditory cell function.
He highlights the wider impact of undiagnosed hearing disorders on education and employment, especially where early intervention is lacking. Cellular assays showed reduced protein expression, mislocalization, and cytoskeletal disruption — pointing to impaired auditory cell integrity.
Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss https://t.co/vhbEtNYiBW #mdpiijms via @IJMS_MDPI
ELSI.... on Genomic Testing and Precision Medicine remains multifaceted and complicated...requiring a collaborative approach with the relevant stakeholder groups....! Interesing discussion ahead... @WACCBIP_UG@GeneMAPOfficial@synthymama@hela_azaiez
Please join us today, at 15:00 GMT, for our inaugural Science & Society Café on "Engaging to Build Trust in Genomics & Data Science for Health Research in Africa". Register: https://t.co/HwClCWunFb. Thanks to our panelists for kick-starting this PUBGEM-Africa event @DSI_Africa
Our @DSI_Africa PUBGEM-Africa project is gearing up for a series of science & society cafes (virtual & in-person) on genomics, data science & health research. Join us for thought-provoking & deliberative discussions led by speakers from diverse knowledge fields. @NIH@NIMHgov
Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis...the discussion.. @GeneMAPOfficial
Celebrate #WorldHearingDay 2024 by fostering transformative mindsets! 🌍👂 Let's prioritize universal ear and hearing care, as over 80% of global needs remain unmet. Our journey is ongoing, bridging gaps and ensuring access for all. 🚀 #HearingCareForAll#WACCBIPis10
Synthia Nchangwi Munung is talking at the @DSI_Africa consortium meeting on equity and ethics in AI. Under representation in datasets will lead to bias and inequity. We need better, more diverse training datasets for African applications. @eLwazi_ODSP
Congrats to Prof Ambroise Wonkam on being elected as a Fellow (Medical and Health Sciences) to The World Academy of Sciences @TWASnews. This is in relation to his contributions to medical genetics research & practice in Africa. Details: https://t.co/hDE3WkjHGn @SickleInAfrica
In a book review in @TheLancet, Ambroise Wonkam reflects on the question "Are we genetically literate enough for global precision health? & his perspective on "scientific wellness" & the ethical, legal, & social considerations. Article link: https://t.co/RKoDl96ZgO. @DSI_Africa
Join us on August 17th 3pm CAT to hear about the Genomics Centres of Excellence in Africa proposal draft and to provide your input, see details below to register. @christian_happi@sofoniaskt
Ahead of the lecture, don't miss the week-long exclusive exhibition at the @UnivofGh Balme Library showcasing Prof @gordon_awandare’s brilliant scholarly works.
Prof Ambroise Wonkam starting off day 3 of the 9th #SicklnAfrica Consortium meeting that bring together #SCD stakeholders: researchers, patients, policymakers and commercial companies