Zornitza Stark
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
- Terrific to see this out! 10 years of variant interpretation courses delivered to >1000 participants 👏👏👏 And of course thoroughly evaluated 😁🇦🇺
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- Genomic Newborn Screening: Commodity or Public Good? onlinelibrary.wiley.com/doi/10.5694/... What's next for genomic NBS in Australia? Commercial testing? Publicly funded program? Large scale research to build capacity, infrastructure and evidence? We discuss the options & ethics ⚖️ @mja.com.au
- Reposted by Zornitza StarkThe government can’t claim that medical research is a priority while failing to treat it as one. Nine in 10 leading researchers in Australia are missing out on government support for world‑class proposals, leaving exceptional talent uncertain about their future.
- Reposted by Zornitza StarkReading “The 5 stages of the ‘enshittification’ of academic publishing” theconversation.com/the-5-stages...
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- Reposted by Zornitza StarkHow can we measure the value of #genomics in #healthcare? How can #HTA, #implementation & data management be adapted to suit the rapidly evolving nature of genomics? For insights, read the Review from Zornitza Stark, Ilias Goranitis & colleagues. nature.com/articles/s41591-025…
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- Reposted by Zornitza StarkIn this Nature Medicine paper, we draw from our experiences in evaluating and implementing #genomics in Australia, Canada, England, Hong Kong and the US www.nature.com/articles/s41...
- www.nature.com/articles/s41... 🔥🔥🔥 Is genomics value for money??? 🧬💰 👉 How do we define it? 👉 Measure it? 👉 And deliver it? rdcu.be/eR243 @iliasgoranitis.bsky.social @stephaniebest.bsky.social @hadleyssmith.bsky.social @rich-genomics.bsky.social @jbuchanan-ox.bsky.social @rdexeter.bsky.social
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- Terrific to finally see this out @natgenet.nature.com, what a great collaboration to have been part of, massive congrats @noalipstein.bsky.social and team 👏👏👏
- Reposted by Zornitza StarkAwesome work by @zornitza.bsky.social and collaborators showing the immediate value of WGS for newborn screening in a cohort of 1,000 Australian babies. Now we need larger, more diverse cohorts to show this approach can achieve population scale!
- 🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬 👉 www.nature.com/articles/s41... 1,000 babies WGS using existing cards 600+ conditions 13 day TAT 16 diagnoses (vs 1 in std NBS) High clinical impact High parental acceptability
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- 🤗 Out now @naturemedicine.bsky.social results of our genomic NBS study BabyScreen+ 👶🧬 👉 www.nature.com/articles/s41... 1,000 babies WGS using existing cards 600+ conditions 13 day TAT 16 diagnoses (vs 1 in std NBS) High clinical impact High parental acceptability
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- Reposted by Zornitza StarkThe UK Govt just released its 10 year plan for the NHS and it is legitimately ambitious and exciting. Genomic population health features heavily... on the cover even! assets.publishing.service.gov.uk/media/686638...
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- Reposted by Zornitza StarkHey Australian genetics/genomics friends: the OurDNA Symposium will be in Sydney on 14 August, just before the HGSA meeting. Learn more about inclusive recruitment for genomics and get a preview of the OurDNA variant browser! events.humanitix.com/ourdna-sympo...
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- JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie... Another one for you @diseasegenes.bsky.social! #morbidgene
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- What does the Australian public think about the value and implementation of genomic NBS? 🧬👶⚖️ @ajhgnews.bsky.social @iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social #raredisease #genomics #healtheconomics www.sciencedirect.com/science/arti...
- Reposted by Zornitza StarkAlso many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
- Reposted by Zornitza StarkMissed a presentation at #eshg2025? Do not worry as all talks will be available on-demand until November 30, 2025!
- 🤗🤗🤗🇦🇺🇦🇺🇦🇺 And absolutely thrilled to see @dgmacarthur.bsky.social deliver the @eshg.bsky.social Award Lecture #ESHG2025!!! 🇦🇺🇦🇺🇦🇺 So incredibly well deserved!!!
- #ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social
- Reposted by Zornitza StarkKym Boycott #ESHG2025 What is matchmaking One? Two? Zero? sided Why do we do it (see the photo below ☺️) 👍👍@deciphergenomics.bsky.social second largest contributor to MatchMaker Exchange ❓sadly, 94% of genematcher entries have no phenotype DECIPHER is much better
- Reposted by Zornitza StarkKym Boycott #ESHG2025 Disease-Gene discoveries are falling 😲 Don't tell @DiseaseGenes bot! 🤖 #MorbidGene In all seriousness, I suspect that conditions associated with each gene are growing - we are in a phase of understanding of gene pleiotropy
- #ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease
- Now on in Gold: @jbuchanan-ox.bsky.social and one of my favourite topics #ESHG2025 — measuring the economic value of #genomics
- Reposted by Zornitza Stark@zornitza.bsky.social updating on Talos automated reanalysis pipeline #ESHG2025 >250 new diagnosis from 4744 unsolved cases. That’s 5% new extra for <1 variant per case, it’s #scaleable! Pre-print now out: www.medrxiv.org/content/10.1... Talos is #portable #opensource: github.com/populationge...
- Reposted by Zornitza StarkZornitza Stark @zornitza.bsky.social #ESGH2025 🤖 TALOS automatically and iteratively re-reviews genomes and exomes (including CNVs/SV on historic data) focus on specificity - only 0.7 candidates /trio Diagnostic yield is 5%, 248/4,744 - higher in older cases 9% 2019 4% 2022
- #ESHG2025: has social media broken scientific knowledge sharing? Come and join us at Sequencing Square at 1415! @jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social
- Reposted by Zornitza StarkDr Dani Hock from @dstroudlab.bsky.social presenting on #RDMassSpec in diagnosis of #raredisease in the Multiomics session #ESHG2025
- Reposted by Zornitza StarkLooking for a workshop at 14:15? #ESHG2025 Since you're currently reading this, how about... "Has social media broken scientific knowledge sharing?" - subject experts, lively debate, audience engagement 📍 Sequencing Square (↗️ turn right as you enter exhhibitor hall)
- Legged it over to Space 3 #ESHG2025 for the late breaking abstract session and a sense of deja vu from Berlin #ESHG2024 with @nickywhiffin.bsky.social presenting more beautiful RNU4-2 work!
- Too much great stuff on this morning #ESHG2025, on at sequencing square: lightening poster talks! @genomeseb.bsky.social now presenting results from the BabyScreen+ study
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- Reposted by Zornitza Stark@zornitza.bsky.social opening a well-attended Newborn Screening session with a talk on choosing conditions Subjectivity in application of widely agreed inclusion criteria leads to small overlap (55 genes) pubmed.ncbi.nlm.nih.gov/38275146/
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- Next up in Gold: @khmiga.bsky.social it’s time to modernize the reference genome! #ESHG2025
- Absolutely delighted to see Sylvia Metcalfe give the ELPAG lecture this year #ESHG2025 🇦🇺🇦🇺🇦🇺
- Now on in Gold #ESHG2025 Yuyang Chen @nickywhiffin.bsky.social and using Ribo-Seq to identify small ORFs important in #raredisease 🔍🧬 multiple new diagnoses found, due to both novel and recurrent variants
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- And we’re off #ESHG2025! Now on implementing #genomics at scale: Lil Downie talking about our experience of using digital decision support on genomic NBS @genomeseb.bsky.social @yvonnebombard.bsky.social
- 🤗 Hugely excited to share our work on automating iterative reanalysis in #raredisease, preprint out: www.medrxiv.org/content/10.1... 🤖🧬 github.com/populationge... A superb collaboration with @dgmacarthur.bsky.social @cassimons.bsky.social @heidirehm.bsky.social @ksamocha.bsky.social and many more!
- Absolutely stellar work by @dstroudlab.bsky.social @daniellahock.bsky.social @thorburnmito.bsky.social and team ⭐️⭐️⭐️👏👏👏 Ultra-rapid proteomics for #raredisease diagnosis!!!
- We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!
- Reposted by Zornitza Stark🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12
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- As @ausgenomics.bsky.social comes to an end: what have we learned? 🇦🇺🧬 @naturemedicine.bsky.social 👉 rdcu.be/eeuAN Change is hard! Key for success: working across disciplines; jurisdictions; and all leadership levels🏆 @stephaniebest.bsky.social @iliasgoranitis.bsky.social @andrewmallett8.bsky.social
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- Another excellent #collaboration to have been part of! #raredisease 🧬🔍
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- Reposted by Zornitza StarkA few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
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