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 mdpi.com/3254478 #mdpiijms via @IJMS_MDPI
RT @GeneMAPOfficial: 🎓🎉 Huge congrats to GeneMAP Research Fellow, Elvis Twumasi Aboagye, on his PhD graduation from @UnivofGh. His PhD rese…
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
This will be an interesting conversation on ethics, genomics and data science in Medicine virtual cafe. Registration: zoom.us/webinar/registerWN_5…. Looking forward to your presentations @DrNRManyisa, @hela_azaiez, @MaleboMalope
@smadadey, @atelvee. @DSI_Africa
ET_Aboagye retweeted
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: zoom.us/meeting/register/tJM…. Thanks to our panelists for kick-starting this PUBGEM-Africa event @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/register/tJM…. @DSI_Africa, @NIMHgov, @UCTHealthSci, @gillblack8, @ptindana, @OlieMatshabane,@KamgaKaren, @genome_gov
..Great Expectations and Concerns on the Impact of Genomic Medicine on Health Care..How it affects you!@GeneMAPOfficial @WACCBIP_UG @NIH
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
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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
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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: twas.org/article/47-new-fell… @SickleInAfrica
Illuminating thrilling concepts...on precision health...
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
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Excellent Tuesday seminar by Elvis Twumasi Aboagye @atelvee about the genetic architecture of non-syndromic hearing impairment in Ghana!! 🇬🇭 🦻🧬
@GeneMAPOfficial
#HIGenesAfrica
#Geneticmedicine
#sensorydisorders
#hearingloss
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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
AfriPopGen Webinar: Genetic Landscape of Hearing Impairment in Ghana: GJB2-p.Arg143Trp Contribution and Evolution!
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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.
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."
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Prof Ambroise Wonkam starting off day 3 of the 9th #SicklnAfrica Consortium meeting that bring together #SCD stakeholders: researchers, patients, policymakers and commercial companies
Congratulations 🎉🎉🎉
iol.co.za/news/south-africa/…
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Happening now: @WACCBIP_UG Centre Leader, @gordon_awandare & @provcasaug, takes his turn to present the research objectives of #WACCBIPDELTAS2 under the DELTAS Africa II programme. #FromScienceToImpact @SciforAfrica
