Are you an Australasian GC who has done research this year? Then apply to the @gcr-connect.bsky.social showcase. Prizes are available for top abstract. Details 👇 @jodieingles27.bsky.social @laurayeates1.bsky.social @amandamwillis.bsky.social @genetic-fi.bsky.social @sarahred.bsky.social

Two genetic counseling legends - plenary speaker @hz103.bsky.social and session chair @laurayeates1.bsky.social at #hgsa2025 🇦🇺 #genechat

I’m honoured to have been awarded a Young Tall Poppy Science Award for 2025, among a cohort of inspiring researchers from across QLD and Australia. The Young Tall Poppy award celebrates excellence in research and a passion for sharing science with the broader community.

At #csanz2025 but getting to watch my awesome genetic counsellor, Amy Baker, present our Elusive Hearts study data at #hgsa2025 via FaceTime #cardiogen #goteam 🏆

How lucky are we with Dr Carolyn Ho joining us in Brisbane for #CSANZ2025 highlighting some of the challenges with new therapy options in #hypertrophiccardiomyopathy from this beautiful new review! www.cell.com/cell/abstrac... @sharday-penn.bsky.social

Awesome talk from @alberthenry.bsky.social from the Translational Genomics Program at @garvaninstitute.bsky.social on understanding polygenic contributors to dilated cardiomyopathy #csanz2025 #cardiosky 🧬 🌟 @tomlumbers.bsky.social @jamesware.bsky.social @scientistshah.bsky.social

A/Prof Belinda Gray presenting on genetic testing in athletes at #csanz2025 👏🏻 #cardiogen #cardiosky www.heartrhythmjournal.com/article/S154...

Awesome to see this huge paper out and being presented by @fatkin-lab.bsky.social at #csanz2025 Factors influencing penetrance among TTNtv carriers @victorchang.edu.au #cardiogen #cardiosky academic.oup.com/eurheartj/ad...

Getting science done 🧪 🧬 @jnovembre.bsky.social @dgmacarthur.bsky.social @ee-reh-neh.bsky.social

Excited for our publication on how the geographic scale of a sample affects the discovery of rare, deleterious variants to be out this week. With a mix of theory, simulation, and data analysis, we show when samples are narrow vs broad, the number of variants discovered and their frequencies change

Thursday #CSANZ2025 is packed with so many great meetings! I’ll be going between the imaging, heart failure and genetics meetings. Which one will you attend? @anastasiasmihaili.bsky.social @mugander.bsky.social

Well. That was a big morning! @garvaninstitute.bsky.social

July is #DisabilityPride month and to mark it, the Journal of Genetic Counseling has a special virtual issue of papers, curated by @tashawainstein.bsky.social - they’re all free to read for the month of July! So, please do so, enjoy, and share! onlinelibrary.wiley.com/doi/toc/10.1...

Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.

Thrilled to share the Journal of Genetic Counseling's Special issue on Research Methods! Including "how to" papers on: Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc! onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪

📣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

Following up some outstanding days in Milan, with spectacular Padua 😍

What a super star 🌟 @dgmacarthur.bsky.social being awarded the #eshg2025 prize and delivering an inspiring prize lecture @garvaninstitute.bsky.social @mcri.bsky.social #dontworkwithassholes

Nicola Whiffin @nickywhiffin.bsky.social #ESHG2025 Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders Saturation mutagenesis outperforms CADD Novel *AR* NDD with neuroradiological features (below) - ~30 families #MorbidGene

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

Here’s a group of some of the members of the editorial board of the Journal of Genetic Counseling who are present here at #Eshg2025 - we should have an editorial board meeting here next time! #GeneChat

Our second #eshg poster - another phenotype expansion, mucolipidosis III (lysosomal storage disorder) with cardiac features including LV/RV fibrofatty replacement, LVH and ventricular arrhythmia (+skeletal dysplasia) @njhenden.bsky.social @nataliepstewart.bsky.social

Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social

Increase your step count before your next round of pasta tonight, and come chat penetrance with us in the final session of today at 5.15pm in the auditorium #ESHG2025 🍝

Genetic counselors at #eshg2025 representing Australia, Canada and Switzerland! 🧬 🌏 🥂 @tashawainstein.bsky.social @kennedyborle.bsky.social @j9austin.bsky.social #genechat

Up next in the gold plenary session on "genome wide approaches for rare disease are two super 🌟s, PhD student Anthony and postdoc Francois talking about homozygous deletions and pseudoexons, respectively. Well worth delaying that prosecco for, I promise!!

@igmgroup.bsky.social at #ESHG2024. Check out our work incl. Posters - audit of paediatric GT for inborn errors of immunity & impact of mainstream model - development of clinician education for PRS Oral presentation Mon 10:30am -interviews with families re. their experience with mainstream genomics

Now Johannes Krauss explaining the complexities of DNA contamination - archaeogenomics - set of tools to allow incorpation of ancient modern human genomes - gets over the problems of archaeologists licking fossils, for example. #eshg2025

Now Steve McCarol talking about the amazine work about Huntington's Disease's somatic expansion pathogenic mechanism: www.cell.com/cell/fulltex... #eshg2025

Australians representing at #ESHG2025. First up Aisha Ward presenting on @petermaccc.bsky.social mainstreaming genetic testing for familial cancer: * improved access to GT & FCC resource use * 22% of mainstream cases required FCC support * 76% of PV carries had treatment changes from GT

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

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!

As grant money starts drying up, it's more important than ever not to waste it on paying publishers' open access "article processing fees" when we can host PDFs for free. Tom Morgan and I wrote a paper on this, forthcoming at Science and Public Policy. Accepted draft here: osf.io/preprints/os...

📣 Psychological & behavioural considerations for integrating polygenic risk scores for disease into clinical practice www.nature.com/articles/s41... Saskia Sanderson & I wrote a piece assessing the common concern that PRS may have psych/behavioural harms tl;dr 👉 There's little/no evidence for this

Super lucky to host the amazing @ruebenadawes.bsky.social today at Garvan! @garvaninstitute.bsky.social @nickywhiffin.bsky.social @dgmacarthur.bsky.social @ginaravenscroft.bsky.social #genesky

If an 🇦🇺 #biomed researcher, 🙏 consider 📝 this letter to #NHMRC advocating for ⬆️ flexibility around part-time work with #investigatorgrants. This will go some way to reducing barriers encountered by those who work part-time, incl. women of young children #womeninSTEM docs.google.com/document/d/1...

Labor took the glory in last weekend’s election but, once again, the major parties’ primary vote has fallen. Come see what's happened on The Triangle my latest for ABC News: www.abc.net.au/news/2025-05...

This is how our zoom meetings roll... Rosie and Willow getting in on the lab management discussions. They think we should do more sequencing @alexbutters25.bsky.social #cardiosky #dogsky

Everyone: Wow, Labor! James McGrath: #ausvotes2025

Out today in AJHG, this work from my (recently graduated) student Teng Heng on recessive effects in 44k British South Asians from the Genes & Health project @genesandhealth.bsky.social . She found 185 independent hits of which >40% were novel. Worth looking for these in your own cohorts!

La Jolla coastline adventures for my final day in San Diego. It’s been amazing ☀️ 🍺 🫀 #hrs2025

The brilliant @andrewlandstrom.bsky.social opening the gene therapies for SCD conditions at #HRS2025 #cardiosky @sadsfoundation.bsky.social Highlighting this great science advisory doc www.ahajournals.org/doi/10.1161/...

Awesome talk by Dr Cindy James on the many findings from the 800+ DSP-erados network 👏🏻 DSP cardiomyopathy certainly a good example of why knowing genotype is so important #gcchat #cardiogen #hrs2025

Continuing to characterize DSP cardiomyopathy, looking at end-stage disease and arrhythmia risk. Great work from @raecampagna.bsky.social . ##HRS2025

Our booth is all set up this morning at #HRS2025 – Booth #2448. If you’re here #EPeeps, make sure to stop by and say hi! @heartrhythmsociety.bsky.social

Genetic counseling is standard of care for families with inherited cardiac conditions. Great talk from @brittmurray.bsky.social opening our #hrs2025 #cardiogen session #cardiosky

#EPeeps #2025pacesetter Ciorsti MacIntyre on “intentional non-therapy” (trigger avoidance strategy) for LQTS

Super interesting data from EHRA on autopsy and postmortem genetic testing uptake globally after SCD from Elijah Behr #cardiosky #hrs2025 pubmed.ncbi.nlm.nih.gov/34351417/

Wow, this is cool - pulseless detection via smart watch! Helping to make the unwitnessed arrests, witnessed. Great afternoon in the global SCD summit at #hrs2025 #cardiosky www.nature.com/articles/s41...

San Diego is sparkling! ✨ Who will I see at #HRS2025? @heartrhythmsociety.bsky.social #cardiosky