RareDiseaseGenomicsRSA

#RareDiseaseMonth2025 [15/02/2025] Join us for an evening of music, dance & art to support #RareDisease "Rare Talent for Rare Disease" concert featuring @cjbcompany, capechoral.com, SU wind band, Gerhard Joubert, Jason Marshall & others! Tickets: shorturl.at/MRKhM

First diagnosis made today by Lili!!! 😍🥳

Welcome Lilian! We are so excited to have you here, wishing you a fun time in Cape Town, learning genomics and variant interpretation! Solve some genomes for our #RareDisease patients!

@CoRE_GHA @uni_tue @StellenboschUni @shahida_moosa @unibern Lili joined us to work on unsolved WGS datasets from (still) undiagnosed patients. She made her first diagnosis today🥳 Well done Lilian!!!

A huge welcome to #GHA_SciEX exchange student, Lilian Arnold, who ✈️ from @uni_tue 🇩🇪to @StellenboschUni 🇿🇦 ➡️ @shahida_moosa lab for a 2 months stay. Thrilled to learn with and from you! 👏 Kudos to the GHA-SciEx powered by @CoRE_GHA & @unibern #Training #Opportunity

@MatiesResearch We *love* Prof Pretorius, she has co-supervised many students working on qualitative studies in #RareDisease with our Prof @shahida_moosa - bringing us so much closer to implementing impactful programs for families!

Stellenbosch University’s SUNRISE programme supports mid-career academics with mentorship, resources, and opportunities to advance their careers. 💡 As part of the #PathToProf campaign, explore the profiles of current SUNRISE fellows and meet the inspiring scholars shaping the future of research and leadership at Stellenbosch University. 𝓜𝓮𝓮𝓽 Chrisma Pretorius #PathToProf #SUNRISE #StellenboschUniversity #AcademicLeadership #ResearchExcellence #NextGenAcademics #HigherEducation #ResearchforImpact #FutureProfessors

@_safiyegnc @UCT_news @HumGen_UCT @NRF_News @TC_PretoryaBE @TC_CapeTownBK @UCTHealthSci @UCTIDM Bircok tebrik, Safiye!!🥳🥳🥳

🏆 We’re proud to celebrate Prof @shahida_moosa prestigious win at the 2025 @NSTF_SA  Awards Her leadership in @RareGenomicsRSA is advancing world-class research & shaping the next generation of scientists 👏 Congrats, Prof Moosa! #MBHG is proud to be home to such excellence

The utility of next-generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South Africa. @RareGenomicsRSA , @shahida_moosa nature.com/articles/s4143…

Congratulations to Prof Shahida Moosa, on her extraordinary achievement as a finalist for the NSTF-SAMRC Clinician-Scientist Award of the prestigious NSTF-South32 Awards – the Science Oscars of South Africa (SA). The Awards recognise outstanding contributions to #science, #engineering, #technology (SET) and #innovation in SA since 1998. She is the Head of Medical Genetics at Tygerberg Hospital and Professor of Medical Genetics at @StellenboschUni; and also in the TW-Kamule-NSTF Emerging Researcher category. * Genomics for Health in Africa is a first of its kind in sub-Saharan Africa, and is revolutionising clinical genomics and precision medicine on the continent. The project aims to provide diagnoses to the 100 million Africans living with undiagnosed rare diseases and familial cancers. The programme’s motto is “Until every African with a Rare Disease and Cancer is diagnosed”. Using the latest in genomic technology, coupled with outstanding clinical and bioinformatic expertise and novel AI-tools, GHA has thus far been able to diagnose more than half of the participants enrolled, many of whom are the first in Africa with their diagnoses. GHA aims to leave no-one behind, extends its impact from bedside to laboratory and back again, and provides increased access to needed genomic testing to underserved and underrepresented African populations from South Africa to Rwanda and beyond. See the list of all finalists who are contending as finalists for the best contributions to SET and innovation in SA under 16 different categories: nstf.org.za/current-finali… @South32 @SAMRC #NSTFawards2025 #scienceoscars #research #scientificresearch #development #KnowledgeBasedEconomy #sciencerolemodels #scienceexcellence #socioeconomicgrowth

Congratulations to Prof Shahida Moosa, on her extraordinary achievement as a finalist for the TW Kambule-NSTF Award: Emerging Researcher of the prestigious NSTF-South32 Awards – the Science Oscars of South Africa (SA). The Awards recognise outstanding contributions to #science, #engineering, #technology (SET) and #innovation in SA since 1998. She is the Head: Medical Genetics, Tygerberg Hospital; Professor: Medical Genetics at the @StellenboschUni and also, in the NSTF-SAMRC Clinician-Scientist category*. Genomics for Health in Africa is a first of its kind in sub-Saharan Africa and is revolutionising clinical genomics and precision medicine on the continent. The project aims to provide diagnoses to the 100 million Africans living with undiagnosed rare diseases and familial cancers. The programme’s motto is “Until every African with a Rare Disease and Cancer is diagnosed”. Using the latest in genomic technology, coupled with outstanding clinical and bioinformatic expertise and novel AI-tools, GHA has thus far been able to diagnose more than half of the participants enrolled, many of whom are the first in Africa with their diagnoses. GHA aims to leave no-one behind, extends its impact from bedside to laboratory and back again, and provides increased access to needed genomic testing to underserved and underrepresented African populations from South Africa to Rwanda and beyond. See the list of all finalists who are contending as finalists for the best contributions to SET and innovation in SA under 16 different categories: nstf.org.za/current-finali…… @South32 #NSTFawards2025 #scienceoscars #research #scientificresearch #development #KnowledgeBasedEconomy #sciencerolemodels #scienceexcellence #socioeconomicgrowth

#NewBuggy Thanks to very generous donors, Little L got his 1st buggy today: now he can zoom around in this amazing stroller, which can fold & is easy to transport on the taxi! Shout out to the amazing @SydneyStel @SyngapNetwork @cureSYNGAP1 - for making this happen! #CureSyngap

That's us: Co-Lead for Genomics in Health in Africa. Dream made reality by our Prof @shahida_moosa #ResearchForImpact in Africa, for Africans, by Africans "Until every African with a #RareDisease and #Cancer is diagnosed!" @CoRE_GHA @SUhealthsci @SuMBHG

📣New today! 📄De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms 🧑‍🤝‍🧑@KancaOguz & @UDNconnect colleagues cell.com/ajhg/abstract/…

I think the @RareGenomicsRSA team and Prof @shahida_moosa doesn't get the level of credit they deserve. We spend millions of Rands telling the stories of other countries, but little to no credit for our own. @geordinhl please let our citizens know about these about these Heroes

A reminder that abstract submissions for the ISCB Africa ASBCB Bioinformatics conference in Cape Town in April close on February 20th. Travel fellowships will be available for African students with accepted talks, info will be on the website soon: iscb.org/africa2025/home

#RareDiseaseMonth Fridays in Feb are cupcake days! Spreading awareness about #RareDiseases - 1 cupcake at a time! Thanks for all the support @SUhealthsci @SuMBHG @shahida_moosa

#RareDiseaseMonth Wednesdays in Feb are sandwich days: we package and deliver delicious sandwiches and fruit to the patients at the Paediatric outpatients at Tygerberg Hospital, including those attending #Genetic Clinic. 1 smile at a time... @shahida_moosa @SUhealthsci @SuMBHG

There are still tickets available to attend this amazing event - It is going to be spectacular, just look at the line up of artists who will be performing! Buy a ticket or 3 or 4! See you there this Saturday! @MatiesResearch @StellenboschUni @SUglobally @PostdocSU @StelliesSRC

Prof @shahida_moosa is presenting on “Genetics of facial morphology recognition”. We need more images and more diversity to make AI more efficient she purports. GMDB is an app everyone can be involved in for the benefit of others. #AfSHG2025 #Africa #Genetics

Interesting panel discussion from the session 1 speakers on AI, Machine Learning and Data Science. Topics presented and dissected ranged from “Application of AI in Cancer Genomics”, Alzheimer’s Disease and Retinopathy. #AfSHG2025 #Africa #Genomics #WomenInSTEM

#AfSHG in Uganda- early birds taking part in a workshop on clinical databases and resources used in #RareDisease and #Cancer clinics and research. Participants and faculty from across the continent, speaking several languages! @aimelumaka @AfSHG_Genetics @RareGenomicsRSA