Human Genetics UCT 🧬🇿🇦

🚨🧬OUR SOCIALS🧬🚨 Follow us on INSTAGRAM: instagram.com/humgen_uct/ FACEBOOK: facebook.com/HumGenUCT YOUTUBE: @humangeneticsuct824" target="_blank" rel="nofollow noopener">youtube.com/@humangenetics…

DID YOU KNOW tomorrow is #downsyndromeawarenessday Celebrated on the 21st of the 3rd month, as it's caused by three copies of Chromosome 21 (Trisomy 21) March 21 is also Human Rights Day in South Africa. 🇿🇦 Celebrating respect, dignity, diversity and inclusion.

Our latest research on #retinoblastoma has just been published with @SpringerNature in BMC Cancer Read here: rdcu.be/e73nH We investigated the molecular landscape and potential healthcare & economic benefits of implementing genetic testing for heritable RB in 🇿🇦

As we celebrate women on this year’s #InternationalWomensDay, PGC Africa would like to recognise the remarkable women advancing psychiatric and neurodevelopmental disorders genetics research in Africa 🌍 🧬 1/2

Starts tomorrow! Celebrate #MedicalGeneticsAwareness Week, sponsored by @myomeinc, with us March 10-14! How do you make a difference? Visit tinyurl.com/MGWresourcetoo… for all you need to participate on Twitter, Facebook, LinkedIn, & Instagram.

28 February was Rare Disease Day 💜 We stand with individuals living with rare diseases and advocate for awareness, research, and equitable access to care. This year’s theme, More Than You Can Imagine - Equity, reminds us that equity in healthcare matters. Today and every day.

We’re thrilled to announce the WINNER of our Rare Disease Day 2026 Poster Competition: Nicole Brits 🎉 With a background in genetics and a passion for rare disease awareness and equity, Nicole’s design beautifully reflects this year’s theme, More Than You Can Imagine - Equity💜

🧵 New publication from the PGC Anxiety Working Group. Our GWAS meta-analysis of anxiety disorders is now published in @NatureGenet! 🔗: doi.org/10.1038/s41588…

👶 For children with genetic rare diseases, the rare disease journey often starts early. 💜 Equity for rare diseases means giving every child, everywhere, an equal start in life. 👉 Learn more:go.rarediseaseday.org/equity #RareDiseaseDay #EquityForRare

A great collaboration on personalized medicine for #epilepsy in Africa! See the plain language summary here: onlinelibrary.wiley.com/doi/10.1111/dm…

AlphaGenome is out in @nature today along with model weights! 🧬 📄 Paper: nature.com/articles/s4158… 💻 Weights: github.com/google-deepmin… Getting here wasn’t a straight path. We sat down @googledeepmind to discuss the story behind the model, paper & API: youtu.be/V8lhUqKqzUc

⏰ The countdown continues…ONE MONTH until #RareDiseaseDay! How are you going to #LightUpForRare of #ShareYourColours? We want to know! 🌍 Explore toolkits & events to get involved: go.rarediseaseday.org/RDD #RareDiseaseCommunity

🧬 People living with a rare disease often wait years for answers. 💜 Equity means every person deserves the same chance to benefit from a treatment for their condition. 👉 Learn more: go.rarediseaseday.org/equity #RareDiseaseDay #EquityForRare#TreatmentAccess

Venturing into the dark genome. Our researchers are part of a global collaboration which has identified a new cause of blindness, showing for the first time that noncoding genes can cause inherited retinal diseases nature.com/articles/s4158…

That's a wrap on the #AGSC2025 course! What an inspiring 11 days filled with learning, research, networking and a vibrant exchange of ideas during the inaugural African Genomics Short Course! Safe travels to everyone and please stay in touch 🧬 #AGSC2025 #Africa #Genomics

We are deeply saddened by the untimely passing of Professor Dan Stein, whose enormous impact in research was rivalled only by the impact he had on the lives of those with whom he worked.

Day 7 of the intensive 1st African Genomics Short Course is underway with a module on “Sequence Data Analysis, Interpretation and Visualisation” and “Applied Project: End-to-End Genomic Analysis” co-led by Prof Sobreira, Dr KINTU , and Dr Tamuhla #AGSC2025 #Africa #Genomics

#ICYMI The first cohort of the African Genomics Short Course had the pleasure of of being given a demonstration and overview tour of the Human Genetics Division at University of Cape Town during the afternoon session yesterday on Day 4. Saw end to end process. #AGSC2025 #Africa

🌐Register to join us online for our 8th & 9th keynote seminar(s) with Prof Mulder & Prof Williams during the African Genomics Short Course happening on the 5th of December 2025 at 12 pm CAT and 16:30 pm CAT (respectively), online and face to face: lnkd.in/e3Hyrmdh

The lab component of the 1st African Genomics Short Course took place yesterday - Our team took the participants through 5 stations, from sample arrival to Next Generation Sequencing #AGSC2025 @AfSHG_Genetics @AfrBioInstitute @eventsWCS

🌐 Register to join us online for our 6th and 7th keynote seminar(s) with Prof LUMAKA & Prof Tishkoff during 1st African Genomics Short Course happening tomorrow on the 4th of Dec 2025 at 12 pm CAT & 16:30 pm CAT (respectively), online/f2f: lnkd.in/e3Hyrmdh #AGSC2025