Amazing to see how a relatively simple idea resulted in a tool with such impact on rare disease diagnosis: Talos. Designed to screen genomic data from unsolved cases for new and obvious answers in a high-throughput, time- and cost-effective manner. Well done @zornitza.bsky.social et al!!

Zornitza Stark@zornitza.bsky.social · 2mo ago

📣 Out now @naturemedicine.bsky.social 🧬🤖 👉 rdcu.be/fqasl Our automated reanalysis tool Talos enables broad adoption and delivers timely + equitable #raredisease #diagnosis at scale! ♻️ Runs monthly on >10K datasets 🎯High specificity 💰Low running costs 🤗Open source @dgmacarthur.bsky.social

The 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.

Most researchers miss out on innovation grants while medical fund sits on $25b

Nine in 10 Australian researchers had their “ideas grant” applications rejected last year, even as Australia’s medical investment fund sits on $5 billion more than it was designed to hold.

theage.com.au

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

Genomic Newborn Screening: Commodity or Public Good?

Genomic newborn screening (gNBS) can screen for a broad range of genetic conditions, potentially enabling early treatment and improving health outcomes. However, it remains outside publicly funded pr...

onlinelibrary.wiley.com

🤗 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

Proud to share our BabyScreen+ #gNBS study is now out in @naturemedicine.bsky.social: 1000 babies screened, results in <2wks, 16 high chance findings, incl. 2 with major impact on care. Big thanks to @zornitza.bsky.social and the study team! www.nature.com/articles/s41...

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 babies.

nature.com

Pretty excited about giving Talos a try in the NHS @rdexeter.bsky.social‬. We should definitely be doing regular reanalysis of existing genome-wide sequencing data, just need the right tools!

GenomeSeb@genomeseb.bsky.social · last yr.

@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...

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...

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. …

sciencedirect.com

Already so many benefits, and this is only just the start for Talos!

GenomeSeb@genomeseb.bsky.social · last yr.

@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...

@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...

Daniella Hock, U Melbourne: proteomics diagnostics in rare disease. Fascinating ECHS1 #epilepsy synonymous + del compound heterozygous variant w/ founder effect/regional polymorphism. Rapid proteomics testing ~$1.000, cave(!) fibroblast/tissue cultivation time. #eshg2025 #genetics #proteomics

🌟 Trainees & Recruiters! 🌟 Don't miss the #ESHG2025 MatchMaking! Whether you're ready to take the next step in your career or seeking fresh talent, join us today at the #ESHG-Y booth 546 in Hall 4 at 12:00 hrs CEST. Let's connect and advance our careers in #genetics together!

Thank you @ahoischen.bsky.social and Lot Snijders Blok for hosting the Poster lightalk session. It was indeed a lot of fun, and a lot of great work presented. #ESHG2025

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

Should be an exciting session this morning in Brown 3 #Eshg2025 discussing the latest in genomic newborn screening. Kicking off is the amazing @zornitza.bsky.social with an interactive hot topic session on what conditions to include.

🗣️ Quote of #ESHG2025 (so far) "Who licks bone !?!" 🦴 - Johannes Krause Anyone have that on your bingo card? Well apparently archeologists do, to distinguish bone from stones and it causes problems in DNA sequencing. 🤔

Steve McCarroll plenary. Amazing to go back to Huntington's disease, and learn there is nothing toxic about inherited CAG expansion, its their random somatic expansion over a relatively short period of time. Explains a lot about later onset of condition. #ESHG2025

Release announcement from T2T consortium! humanpangenome.org/hprc-data-re... #ESHG2025. Combining @nanopore @pacbio and @illumina data to improve the T2T pangenome 🧬

Attend the ELPAG Award lecture at 14:15 at #eshg2025 with Sylvia Metcalfe who played a leading role in setting up the Genioz project and find out about her research that led to the ELPAG Award.

Getting ready for #eshg2025 …and our postdoc @lydiasagath.bsky.social made a nice BINGO card again. Paying a lot of attention to the entire event will pay off!

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

This is great work showing how regular automated re-analysis of genomic data for negative cases yields new diagnosis in a scalable way. No AI required!

Zornitza Stark@zornitza.bsky.social · last yr.

🤗 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!

📣 Out now in #HumanGenomics! 🤔 What do the public think about the use of AI in #genomic medicine? 👉 rdcu.be/d0PLP Benefits: efficiency ⬆️ errors ⬇️ Concerns: data security 🔐 discrimination Who would be liable for error? 🤖👩‍⚕️ @genetic-fi.bsky.social Danya Vears & Jack Harrison 👏