Jodie Ingles
@jodieingles27.bsky.social
Head, Clinical Genomics Lab | Director, Genomics & Inherited Disease Program, Garvan Institute, Sydney | Cardiac Genetic Counsellor | Feminist | Willow’s human | Swiftie 🫶🏻 #cardiogen #genechat #cardiosky
Pinned
Jodie Ingles
@jodieingles27.bsky.social
· Feb 18
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social
www.sciencedirect.com/science/arti...
Reposted by Jodie Ingles
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
@jodieingles27.bsky.social @laurayeates1.bsky.social @amandamwillis.bsky.social @genetic-fi.bsky.social @sarahred.bsky.social
🚨 Reminder: Abstracts due soon! 🚨
Submit by 5pm Fri 10 Oct for the chance to present at the GCR Connect End of Year Showcase 🎤 (Thurs 13 Nov).
Top abstract wins $100 prize 🏆
📩 Send your abstract (≤250 words) to Kirsten Boggs
For more information see the ASGC newsletter
Submit by 5pm Fri 10 Oct for the chance to present at the GCR Connect End of Year Showcase 🎤 (Thurs 13 Nov).
Top abstract wins $100 prize 🏆
📩 Send your abstract (≤250 words) to Kirsten Boggs
For more information see the ASGC newsletter
October 3, 2025 at 6:32 AM
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
@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
August 18, 2025 at 6:13 AM
Two genetic counseling legends - plenary speaker @hz103.bsky.social and session chair @laurayeates1.bsky.social at #hgsa2025 🇦🇺 #genechat
Reposted by Jodie Ingles
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.
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.
news.uq.edu.au
August 15, 2025 at 11:18 PM
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 🏆
August 16, 2025 at 8:42 AM
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
August 16, 2025 at 3:55 AM
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
August 16, 2025 at 1:59 AM
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...
August 16, 2025 at 1:44 AM
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...
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.
pubmed.ncbi.nlm.nih.gov
August 16, 2025 at 1:09 AM
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...
August 14, 2025 at 11:06 AM
Reposted by Jodie Ingles
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
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...
www.pnas.org
June 5, 2025 at 5:55 PM
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
Reposted by Jodie Ingles
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
August 10, 2025 at 9:51 PM
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
August 9, 2025 at 1:03 AM
Well. That was a big morning! @garvaninstitute.bsky.social
Reposted by Jodie Ingles
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...
Disability Pride Month: Journal of Genetic Counseling
Click on the title to browse this issue
onlinelibrary.wiley.com
July 1, 2025 at 1:55 AM
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...
Reposted by Jodie Ingles
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.
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.
June 14, 2025 at 6:35 PM
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.
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.
Reposted by Jodie Ingles
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 🧪
Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪
Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
onlinelibrary.wiley.com
June 13, 2025 at 6:26 PM
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 🧪
Stats! Grounded theory! Interpretive Phenomenological analysis! Content analysis! Mixed methods! Surveys! Chart review! etc!
onlinelibrary.wiley.com/doi/toc/10.1... #AcademicSky 🧪
Reposted by Jodie Ingles
📣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
Following up some outstanding days in Milan, with spectacular Padua 😍
May 28, 2025 at 5:49 PM
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
May 27, 2025 at 8:23 PM
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
Reposted by Jodie Ingles
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
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
May 26, 2025 at 9:45 AM
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
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
Reposted by Jodie Ingles
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
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
May 26, 2025 at 9:26 AM
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
May 26, 2025 at 8:37 AM
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
Reposted by Jodie Ingles
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 🍝
May 25, 2025 at 8:55 AM
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
May 25, 2025 at 9:05 AM
Genetic counselors at #eshg2025 representing Australia, Canada and Switzerland! 🧬 🌏 🥂 @tashawainstein.bsky.social @kennedyborle.bsky.social @j9austin.bsky.social #genechat