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Jodie Ingles

@jodieingles27.bsky.social
2K followers 840 following 175 posts

Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky

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Reposted by Jodie Ingles
Tatiane Yanes @tatyanes.bsky.social · 03/10/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 18/08/2025
Two genetic counseling legends - plenary speaker @hz103.bsky.social and session chair @laurayeates1.bsky.social at #hgsa2025 🇦🇺 #genechat
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Tatiane Yanes @tatyanes.bsky.social · 16/08/2025
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.
news.uq.edu.au
10 UQ researchers receive Tall Poppy Science Awards
Ten UQ researchers have been awarded Young Tall Poppy Science Awards, celebrating their research impact and passion for inspiring young people to pursue STEM careers.
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Jodie Ingles @jodieingles27.bsky.social · 16/08/2025
At #csanz2025 but getting to watch my awesome genetic counsellor, Amy Baker, present our Elusive Hearts study data at #hgsa2025 via FaceTime #cardiogen #goteam 🏆
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Jodie Ingles @jodieingles27.bsky.social · 16/08/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 16/08/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 16/08/2025
A/Prof Belinda Gray presenting on genetic testing in athletes at #csanz2025 👏🏻 #cardiogen #cardiosky www.heartrhythmjournal.com/article/S154...
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Jodie Ingles @jodieingles27.bsky.social · 16/08/2025
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...
pubmed.ncbi.nlm.nih.gov
Titin-related familial dilated cardiomyopathy: factors associated with disease onset - PubMed
Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.
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Jodie Ingles @jodieingles27.bsky.social · 14/08/2025
Getting science done 🧪 🧬 @jnovembre.bsky.social @dgmacarthur.bsky.social @ee-reh-neh.bsky.social
6 young highly accomplished people who love genetics eating vegetarian food
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John Novembre @jnovembre.bsky.social · 05/06/2025
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
pnas.org
PNAS
Proceedings of the National Academy of Sciences (PNAS), a peer reviewed journal of the National Academy of Sciences (NAS) - an authoritative source of high-impact, original research that broadly spans...
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rebeccakozor.bsky.social @rebeccakozor.bsky.social · 10/08/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 09/08/2025
Well. That was a big morning! @garvaninstitute.bsky.social
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Jehannine (J9) Austin @j9austin.bsky.social · 01/07/2025
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...
onlinelibrary.wiley.com
Disability Pride Month: Journal of Genetic Counseling
Click on the title to browse this issue
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euanashley @euanashley.bsky.social · 14/06/2025
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.
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Jehannine (J9) Austin @j9austin.bsky.social · 13/06/2025
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 🧪
onlinelibrary.wiley.com
Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
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The American Journal of Human Genetics @ajhgnews.bsky.social · 28/05/2025
📣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
cell.com
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...
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Jodie Ingles @jodieingles27.bsky.social · 28/05/2025
Following up some outstanding days in Milan, with spectacular Padua 😍
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Jodie Ingles @jodieingles27.bsky.social · 27/05/2025
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
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James Fasham @jamesfasham.bsky.social · 26/05/2025
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
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Zornitza Stark @zornitza.bsky.social · 26/05/2025
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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Jehannine (J9) Austin @j9austin.bsky.social · 26/05/2025
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
Some of the members of the editorial board of the Journal of Genetic Counseling, standing in a row and smiling at the camera. Left to right: Alison McEwen (special issue guest editor), Bianca Rousseau, Ramona Moldovan, J9 Austin, Andra Ciuca, Tasha Weinstein- also here but not in pic: Tara Clancy, Christophe cordier, Jodie Inglis.
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Jodie Ingles @jodieingles27.bsky.social · 26/05/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 26/05/2025
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
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Kathryn McGurk @kathrynmcgurk.bsky.social · 25/05/2025
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 🍝
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Jodie Ingles @jodieingles27.bsky.social · 25/05/2025
Genetic counselors at #eshg2025 representing Australia, Canada and Switzerland! 🧬 🌏 🥂 @tashawainstein.bsky.social @kennedyborle.bsky.social @j9austin.bsky.social #genechat
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Nicky Whiffin @nickywhiffin.bsky.social · 24/05/2025
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!!
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Tatiane Yanes @tatyanes.bsky.social · 24/05/2025
@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
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Gerome Breen @psychgenomics.bsky.social · 24/05/2025
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
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Gerome Breen @psychgenomics.bsky.social · 24/05/2025
Now Steve McCarol talking about the amazine work about Huntington's Disease's somatic expansion pathogenic mechanism: www.cell.com/cell/fulltex... #eshg2025
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Tatiane Yanes @tatyanes.bsky.social · 24/05/2025
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
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Zornitza Stark @zornitza.bsky.social · 24/05/2025
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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David Stroud @dstroudlab.bsky.social · 23/05/2025
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!
pursuit.unimelb.edu.au
Cutting the diagnosis journey for children born with rare genetic diseases
Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...
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Paul Smaldino @psmaldino.bsky.social · 09/05/2025
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...
Author-Paid PublicationFees Corrupt Science and Should Be Abandoned 
Thomas J. H Morgan & Paul E. Smaldino
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Mike Inouye @mikeinouye.bsky.social · 12/05/2025
📣 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
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Jodie Ingles @jodieingles27.bsky.social · 13/05/2025
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
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Prof Gina Ravenscroft🇿🇦🇦🇺 @ginaravenscroft.bsky.social · 09/05/2025
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...
docs.google.com
Letter-NHMRC_IG_FTE_draft
12th of May 2025 RE: NHMRC Investigator Grant Scheme and part-time work Dear Steve and Frances, I am writing to urge the NHMRC to enable greater flexibility in the Investigator ...
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casey briggs @caseybriggs.com · 09/05/2025
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...
abc.net.au
'Third party' vote looks set to beat Coalition
Labor took the glory, but beneath the surface of the election result an ongoing trend holds a warning for both major parties.
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Jodie Ingles @jodieingles27.bsky.social · 06/05/2025
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
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Jo Dyer @instanterudite.bsky.social · 03/05/2025
Everyone: Wow, Labor! James McGrath: #ausvotes2025
media.tenor.com
two knights are standing in the woods and one of them is saying i 've had worse .
ALT: two knights are standing in the woods and one of them is saying i 've had worse .
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Hilary Martin @hilarycmartin.bsky.social · 30/04/2025
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!
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Jodie Ingles @jodieingles27.bsky.social · 28/04/2025
La Jolla coastline adventures for my final day in San Diego. It’s been amazing ☀️ 🍺 🫀 #hrs2025
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Jodie Ingles @jodieingles27.bsky.social · 26/04/2025
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/...
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Jodie Ingles @jodieingles27.bsky.social · 26/04/2025
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
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Sara Cherny MS CGC @saracherny.bsky.social · 26/04/2025
Continuing to characterize DSP cardiomyopathy, looking at end-stage disease and arrhythmia risk. Great work from @raecampagna.bsky.social . ##HRS2025
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FIA | Inherited Arrhythmias @fiacardiac.bsky.social · 25/04/2025
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
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Jodie Ingles @jodieingles27.bsky.social · 26/04/2025
Genetic counseling is standard of care for families with inherited cardiac conditions. Great talk from @brittmurray.bsky.social opening our #hrs2025 #cardiogen session #cardiosky
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Jeffrey M Vinocur @jeffreyvinocur.bsky.social · 26/04/2025
#EPeeps #2025pacesetter Ciorsti MacIntyre on “intentional non-therapy” (trigger avoidance strategy) for LQTS
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Jodie Ingles @jodieingles27.bsky.social · 25/04/2025
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/
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Jodie Ingles @jodieingles27.bsky.social · 24/04/2025
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...
nature.com
Automated loss of pulse detection on a consumer smartwatch - Nature
Nature - Automated loss of pulse detection on a consumer smartwatch
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Jodie Ingles @jodieingles27.bsky.social · 23/04/2025
San Diego is sparkling! ✨ Who will I see at #HRS2025? @heartrhythmsociety.bsky.social #cardiosky
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