RareDiseaseGenomicsRSA
@RareGenomicsRSA
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"Until every African patient with a Rare Disease is diagnosed!" Research group at Stellenbosch University, directed by Prof Shahida Moosa @shahida_moosa
Tygerberg, Cape Town
Joined October 2020
#RareDiseaseMonth2025 [15/02/2025].Join us for an evening of music, dance & art to support #RareDisease."Rare Talent for Rare Disease" concert featuring @cjbcompany, SU wind band, Gerhard Joubert, Jason Marshall & others!.Tickets:
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RT @NSTF_SA: Congratulations to Prof Shahida Moosa, on her extraordinary achievement as a finalist for the NSTF-SAMRC Clinician-Scientist A….
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RT @NSTF_SA: Congratulations to Prof Shahida Moosa, on her extraordinary achievement as a finalist for the TW Kambule-NSTF Award: Emerging….
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#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
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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.
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RT @AJHGNews: 📣New today!.📄De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms.🧑🤝🧑@KancaOguz & @UDNconnec….
cell.com
This study identifies de novo variants in CDKL1 and CDKL2 in individuals with neurodevelopmental symptoms and seizures. Functional analysis in fruit flies provides compelling evidence that these...
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RT @ThePrinceTazz: I think the @RareGenomicsRSA team and Prof @shahida_moosa doesn't get the level of credit they deserve. We spend milli….
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RT @Nicky_Mulder: A reminder that abstract submissions for the ISCB Africa ASBCB Bioinformatics conference in Cape Town in April close on F….
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#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
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#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
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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.
#RareDiseaseMonth2025 [15/02/2025].Join us for an evening of music, dance & art to support #RareDisease."Rare Talent for Rare Disease" concert featuring @cjbcompany, SU wind band, Gerhard Joubert, Jason Marshall & others!.Tickets:
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RT @AfSHG_Genetics: Prof @shahida_moosa is presenting on “Genetics of facial morphology recognition”. We need more images and more diversit….
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RT @AfSHG_Genetics: Interesting panel discussion from the session 1 speakers on AI, Machine Learning and Data Science. Topics presented and….
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RT @shahida_moosa: #AfSHG in Uganda- early birds taking part in a workshop on clinical databases and resources used in #RareDisease and #Ca….
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RT @SUhealthsci: Support rare disease patients by joining the Rare Disease Charity Art Auction! 🎨 Bid on stunning A1 canvas prints by Cumin….
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RT @ahoischen: It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare….
nature.com
Nature Medicine - This flagship study from the European Solve-Rare Diseases Consortium presents a diagnostic framework including bioinformatic analysis of clinical, pedigree and genomic data...
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Very proud of Malwandla! And welcome to Stellenbosch University!.#RareDiseases #OI #BrittleBones @OsteogenesisImperfecta. People with Rare Diseases Shining Brightly! 😍. @BrittleBoneUK @brittlebonessa.
Malwandla Baloyi, SA’s top matric achiever for learners with disabilities, has her sights set on studying Psychology at Stellenbosch. Despite living with brittle bone disease, her resilience inspires us all. We’re rooting for you, Malwandla! #FutureMatie
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Here’s how you can get involved:. Visit the auction platform Create a profile on the website / app (free of charge).Register for the Rare Disease Charity Art Auction.Place your bids on these unique works of art.Share the link with friends!.2/2.
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#RareTalent #RareDiseaseMonth2025.We have launched an online auction - artworks by our registrar Cumine! So talented, so inspired. Where anatomy meets nature 😍.Support our #RareDisease research!. Instructions below 👇.1/2
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