Zornitza Stark
@zornitza.bsky.social
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
🤗 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
👉 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
October 9, 2025 at 8:03 PM
🤗 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
👉 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
🤗🤗🤗🇦🇺🇦🇺🇦🇺 And absolutely thrilled to see @dgmacarthur.bsky.social deliver the @eshg.bsky.social Award Lecture #ESHG2025!!! 🇦🇺🇦🇺🇦🇺 So incredibly well deserved!!!
May 27, 2025 at 12:35 PM
🤗🤗🤗🇦🇺🇦🇺🇦🇺 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
May 27, 2025 at 11:42 AM
#ESHG2025 extraordinary to be listening to Katalin Kariko deliver this year’s Mendel lecture! @eshg.bsky.social
#ESHG2025 now on in Gold: always wonderful to listen to Kym Boycott and the evolution of gene discovery #raredisease
May 27, 2025 at 7:15 AM
#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
May 26, 2025 at 4:16 PM
Now on in Gold: @jbuchanan-ox.bsky.social and one of my favourite topics #ESHG2025 — measuring the economic value of #genomics
#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
@jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social
May 26, 2025 at 12:01 PM
#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
@jamesfasham.bsky.social @psychgenomics.bsky.social @ritabmatos.bsky.social
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!
May 26, 2025 at 9:34 AM
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
May 26, 2025 at 9:14 AM
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
Next up in Gold: @khmiga.bsky.social it’s time to modernize the reference genome! #ESHG2025
May 24, 2025 at 12:39 PM
Next up in Gold: @khmiga.bsky.social it’s time to modernize the reference genome! #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
May 24, 2025 at 9:41 AM
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
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
May 24, 2025 at 8:35 AM
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
Excited to have @nickywhiffin.bsky.social at @mcri.bsky.social today talking non-coding variants!
February 14, 2025 at 2:02 AM
Excited to have @nickywhiffin.bsky.social at @mcri.bsky.social today talking non-coding variants!
📣And out now in Genetics in Medicine:
How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social
Check out our 2-step model👇
doi.org/10.1016/j.gi...
Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social
How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social
Check out our 2-step model👇
doi.org/10.1016/j.gi...
Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social
December 16, 2024 at 6:14 AM
📣And out now in Genetics in Medicine:
How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social
Check out our 2-step model👇
doi.org/10.1016/j.gi...
Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social
How do we best support choices when offering #genomic screening? @ausgenomics.bsky.social
Check out our 2-step model👇
doi.org/10.1016/j.gi...
Terrific collab @yvonnebombard.bsky.social & GeneticsAdviser! 🇨🇦🇦🇺 @genetic-fi.bsky.social @stephaniebest.bsky.social
📣 Out now in Genetics in Medicine:
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
December 9, 2024 at 6:22 AM
📣 Out now in Genetics in Medicine:
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺
👉 authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes 🏆
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
Excited to be at the Australian Functional Genomics Network conference in Melbourne! Fantastic to see so much beautiful functional work being done now, providing more answers to families! 👏👏👏🧬🇦🇺
November 28, 2024 at 1:00 AM
Excited to be at the Australian Functional Genomics Network conference in Melbourne! Fantastic to see so much beautiful functional work being done now, providing more answers to families! 👏👏👏🧬🇦🇺
Wonderful couple of days in Sydney talking #genomics and #multiomics, so much #implementation experience to share with cancer colleagues! #ProCan
November 19, 2024 at 7:24 AM
Wonderful couple of days in Sydney talking #genomics and #multiomics, so much #implementation experience to share with cancer colleagues! #ProCan
👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏
👉Best practice examples and 12 actions we can all take together
👉 https://rdcu.be/dWfsu
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
👉Best practice examples and 12 actions we can all take together
👉 https://rdcu.be/dWfsu
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
December 20, 2024 at 11:03 AM
👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏
👉Best practice examples and 12 actions we can all take together
👉 https://rdcu.be/dWfsu
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
👉Best practice examples and 12 actions we can all take together
👉 https://rdcu.be/dWfsu
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
More excellent work from @MCRI_for_kids @daniellahock #hgsa2024 @HGSAAustralasia rapid proteomics to resolve VOUS. Can be done in hours using 1ml blood 👏👏👏
December 20, 2024 at 11:03 AM
More excellent work from @MCRI_for_kids @daniellahock #hgsa2024 @HGSAAustralasia rapid proteomics to resolve VOUS. Can be done in hours using 1ml blood 👏👏👏
And now the dangers ‼️⚠️‼️of autoclassifying variants in #genomic newborn screening @GenomeSeb @TeamVCGS: early experiences from the BabyScreen+ study
December 20, 2024 at 11:08 AM
And now the dangers ‼️⚠️‼️of autoclassifying variants in #genomic newborn screening @GenomeSeb @TeamVCGS: early experiences from the BabyScreen+ study
A tour de force from @AndrewMallett8 @kidgenaustralia reflecting on the growth of renal #genomics in Australia 🇦🇺 including renal genetics clinics, generating #evidence, upskilling the workforce and driving discovery and #implementation!
December 20, 2024 at 11:08 AM
A tour de force from @AndrewMallett8 @kidgenaustralia reflecting on the growth of renal #genomics in Australia 🇦🇺 including renal genetics clinics, generating #evidence, upskilling the workforce and driving discovery and #implementation!
Superb Sutherland Lecture #hgsa2024 @HGSAAustralasia @Amcinerneyleo increasing access to #genetics and #genomics through #discovery, building #evidence and empowering families 👏👏👏
December 20, 2024 at 11:14 AM
Superb Sutherland Lecture #hgsa2024 @HGSAAustralasia @Amcinerneyleo increasing access to #genetics and #genomics through #discovery, building #evidence and empowering families 👏👏👏
Next up in Hall B @kushjaya and mainstreaming renal #genomics/hashtag/genomics" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#genomics, fantastic suite of resources developed and uptake #implementation @MelbGenomics @KidneyCathy @drstephbest @kidgenaustralia Yay for #genomics champions! But no one size fits all!
December 20, 2024 at 11:14 AM
Next up in Hall B @kushjaya and mainstreaming renal #genomics/hashtag/genomics" class="hover:underline text-blue-600 dark:text-sky-400 no-card-link">#genomics, fantastic suite of resources developed and uptake #implementation @MelbGenomics @KidneyCathy @drstephbest @kidgenaustralia Yay for #genomics champions! But no one size fits all!
Now on in Hall B, adult 🧬 screening and the hugely popular DNA Screen study @PaulLacaze @JaneMTiller! #hgsa2024 @HGSAAustralasia What’s next?
December 20, 2024 at 11:14 AM
Now on in Hall B, adult 🧬 screening and the hugely popular DNA Screen study @PaulLacaze @JaneMTiller! #hgsa2024 @HGSAAustralasia What’s next?
Next up #hgsa2024 @HGSAAustralasia @mmartyn8 presenting results of our study offering 3 types of additional findings using a 2-step model and online decision support #AcuteCareGenomics @AusGenomics
December 20, 2024 at 11:19 AM
Next up #hgsa2024 @HGSAAustralasia @mmartyn8 presenting results of our study offering 3 types of additional findings using a 2-step model and online decision support #AcuteCareGenomics @AusGenomics