Zornitza Stark
@zornitza.bsky.social
Clinical Geneticist, VCGS. Professor, University of Melbourne. Rare disease genomics. 🧬🇦🇺
Pinned
Zornitza Stark
@zornitza.bsky.social
· Oct 9
🤗 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
Reposted by Zornitza Stark
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database - Nature Communications
Here the authors provide an explanation for 95% of examined predicted loss of function variants found in disease-associated haploinsufficient genes in the Genome Aggregation Database (gnomAD),…
www.nature.com
November 4, 2025 at 3:06 PM
New study of 800K+ genomes from gnomAD reveals most “pathogenic” variants in healthy people aren’t truly disease-tolerant. They are explained by annotation errors, mosaicism, or compensatory variants. 🧬
A big step for precision medicine!
www.nature.com/articles/s41...
A big step for precision medicine!
www.nature.com/articles/s41...
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 👏👏👏
New study by @noalipstein.bsky.social and Nils Brose, @mpi-nat.bsky.social links UNC13A gene variants to a new developmental disorder — offering insights into ALS and potential therapies. 👏
Read the full paper: www.nature.com/articles/s41...
Read the full paper: www.nature.com/articles/s41...
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function - Nature Genetics
Pathogenic variants in UNC13A underlie a novel neurodevelopmental syndrome, with three subtypes defined by distinct genotypes with varying clinical and functional impacts characterized in cellular and...
www.nature.com
October 24, 2025 at 2:17 AM
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 Stark
Awesome 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
👉 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 14, 2025 at 9:54 PM
Awesome 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!
Reposted by Zornitza Stark
A study on genomic newborn screening found 1.6% of 1,000 infants had a high chance of a treatable genetic condition, only one of which was caught by standard screening. The model proved feasible, scalable, and highly acceptable to parents.
🧬💻 #MedSky
🧬💻 #MedSky
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study - Nature Medicine
The BabyScreen+ study offered genomic screening to 1,000 newborns in Australia, and showed that the approach is feasible and positively received by families, leading to molecular diagnoses in 1.6% of…
www.nature.com
October 10, 2025 at 3:06 PM
A study on genomic newborn screening found 1.6% of 1,000 infants had a high chance of a treatable genetic condition, only one of which was caught by standard screening. The model proved feasible, scalable, and highly acceptable to parents.
🧬💻 #MedSky
🧬💻 #MedSky
🤗 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
Reposted by Zornitza Stark
🔔 Final chance! Take our global survey on building #healtheconomics capacity in #genomicmedicine. Takes approx. 15 mins. Open to everyone working in genomic medicine. Deadline: End of August. q.surveys.unimelb.edu.au/jfe/form/SV_...
Qualtrics Survey | Qualtrics Experience Management
The most powerful, simple and trusted way to gather experience data. Start your journey to experience management and try a free account today.
q.surveys.unimelb.edu.au
August 13, 2025 at 11:11 AM
🔔 Final chance! Take our global survey on building #healtheconomics capacity in #genomicmedicine. Takes approx. 15 mins. Open to everyone working in genomic medicine. Deadline: End of August. q.surveys.unimelb.edu.au/jfe/form/SV_...
Reposted by Zornitza Stark
The 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...
July 4, 2025 at 2:45 AM
The 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...
Reposted by Zornitza Stark
After a decade of collaboration and innovation, #AustralianGenomics has come to an end.
A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.
A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.
Home — Australian Genomics
www.australiangenomics.org.au
July 1, 2025 at 12:12 AM
After a decade of collaboration and innovation, #AustralianGenomics has come to an end.
A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.
A new national body, #GenomicsAustralia, was established on 1 July 2025 to provide leadership, coordination and expertise in health #genomics.
Reposted by Zornitza Stark
New paper by Mackley & co presents a framework to support genetic testing mainstreaming across specialities, with 4 models differentiated by when service delivery shifts to clinical genetic services.
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
June 26, 2025 at 12:56 AM
New paper by Mackley & co presents a framework to support genetic testing mainstreaming across specialities, with 4 models differentiated by when service delivery shifts to clinical genetic services.
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
🔗 Mainstreaming of clinical genetic testing: A conceptual framework; DOI: 10.1016/j.gim.2025.101465
Reposted by Zornitza Stark
Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. #genetics bit.ly/40jQv3C
June 26, 2025 at 1:52 PM
Just published! ACMG SF v3.3 list for reporting of secondary findings in clinical #exome and #genome #sequencing. This 2025 update adds 3 genes - ABCD1, CYP27A1, and PLN - to the recommended minimum gene list with a description of the factors considered. #genetics bit.ly/40jQv3C
Reposted by Zornitza Stark
Hey 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...
OurDNA Symposium 2025: Partnering for impact
The OurDNA Symposium brings stakeholders together for important conversations about building the foundation for equitable genomics in Australia.
events.humanitix.com
June 23, 2025 at 1:03 AM
Hey 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...
Reposted by Zornitza Stark
Had a blast in Newcastle Uoon Tyne at #EIE25 learning and talking all things #implementation_science. Thrilled to have been awarded. the best poster. @stephaniebest.bsky.social @zornitza.bsky.social and Marlena Klaic
June 7, 2025 at 9:52 PM
Had a blast in Newcastle Uoon Tyne at #EIE25 learning and talking all things #implementation_science. Thrilled to have been awarded. the best poster. @stephaniebest.bsky.social @zornitza.bsky.social and Marlena Klaic
JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie...
Another one for you @diseasegenes.bsky.social! #morbidgene
Another one for you @diseasegenes.bsky.social! #morbidgene
JCI -
Another Fanconi anemia gene joins the club
www.jci.org
June 3, 2025 at 10:36 AM
JCI - Another Fanconi anemia gene joins the club www.jci.org/articles/vie...
Another one for you @diseasegenes.bsky.social! #morbidgene
Another one for you @diseasegenes.bsky.social! #morbidgene
Reposted by Zornitza Stark
Recently our team conducted two #DCEs as part of the BabyScreen+ program to elicit the Australian public’s preferences, values, and priorities for genomic newborn screening (gNBS) and its implementation.
Read more here: sciencedirect.com/science/arti...
Read more here: sciencedirect.com/science/arti...
June 1, 2025 at 10:51 PM
Recently our team conducted two #DCEs as part of the BabyScreen+ program to elicit the Australian public’s preferences, values, and priorities for genomic newborn screening (gNBS) and its implementation.
Read more here: sciencedirect.com/science/arti...
Read more here: sciencedirect.com/science/arti...
Reposted by Zornitza Stark
Wonderful to see our paper on the #Value and #Implementation of #Genomic_Newborn_Screening published in @ajhgnews.bsky.social #BabyScreen+ #HealthEconomics #DCE
📣New today!
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Genomics will potentially transform newborn screening programs globally. To inform
implementation, we surveyed 2,509 members of the Australian public to understand the
importance they place on key asp...
www.cell.com
May 29, 2025 at 2:54 AM
Wonderful to see our paper on the #Value and #Implementation of #Genomic_Newborn_Screening published in @ajhgnews.bsky.social #BabyScreen+ #HealthEconomics #DCE
Reposted by Zornitza Stark
📣New today!
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Genomics will potentially transform newborn screening programs globally. To inform
implementation, we surveyed 2,509 members of the Australian public to understand the
importance they place on key asp...
www.cell.com
May 28, 2025 at 6:43 PM
📣New today!
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
📄Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
🧑🤝🧑 @iliasgoranitis.bsky.social @zornitza.bsky.social & co
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...
@ajhgnews.bsky.social
@iliasgoranitis.bsky.social @stephaniebest.bsky.social @genomeseb.bsky.social @genetic-fi.bsky.social
#raredisease #genomics #healtheconomics
www.sciencedirect.com/science/arti...
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
Integrating genomic sequencing into newborn screening (NBS) has transformative potential for the identification and management of genetic conditions. …
www.sciencedirect.com
May 28, 2025 at 5:12 PM
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...
@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 Stark
Also 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 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
May 27, 2025 at 8:46 PM
Also 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 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
🤗🤗🤗🇦🇺🇦🇺🇦🇺 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
Reposted by Zornitza Stark
Kym 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
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
May 27, 2025 at 7:17 AM
Kym 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
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 Stark
Kym 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
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
May 27, 2025 at 7:23 AM
Kym 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
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
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