ET_Aboagye

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.

This will be an interesting conversation on ethics, genomics and data science in Medicine virtual cafe. Registration: zoom.us/webinar/regist…. Looking forward to your presentations @DrNRManyisa, @hela_azaiez, @MaleboMalope @smadadey, @atelvee. @DSI_Africa

Join us on Monday, 29th April for our first science & society virtual café on genomics and data science in medicine & health research. Zoom registration: zoom.us/meeting/regist…. @DSI_Africa, @NIMHgov, @UCTHealthSci, @gillblack8, @ptindana, @OlieMatshabane,@KamgaKaren, @genome_gov

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

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

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: thelancet.com/journals/lance…. @DSI_Africa

Mark your calendars for the highly anticipated inaugural lecture by our Founding Director, Prof. @gordon_awandare, on June 8, 2023 on the topic "How our Immune System Acquires Tolerance to Malaria and helped us Survive COVID-19."