What a day! My cup is full! Huge thanks to our organising committee for a wonderful #asgc2025 sig day! So excited to be joined by some of the giants of our profession who were there at the start when the meeting was 10 people! Now we’re a membership of 500!
Day one of #HGSA2025 and #asgc2025. Very excited for this jam packed program, catching up with friends, and lots of learning. Thanks to @laurayeates1.bsky.social and the committee for organising such a great program! 🤗
Happening this Thursday! Don’t miss the NSW CVRN Rising Stars July Seminar at University of Sydney. Join us from 3:00–4:15pm for an inspiring session, followed by networking and refreshments. Come along in person – we’d love to see you there! 👉https://shorturl.at/wqsbP @solvechd.bsky.social
Next week! Sign up for the NSWCVRN Rising Stars July Seminar & Join us for an inspiring session - Come along in person at the University of Sydney, 3 - 4:15pm and stick around for networking and refreshments afterwards. See you there 👉https://shorturl.at/wqsbP @solvechd.bsky.social
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 🧪
Research Methods in Genetic Counseling: Journal of Genetic Counseling
Click on the title to browse this issue
onlinelibrary.wiley.com
Sydney researchers are recruiting for a study aimed at improving diagnosis, treatment and support for an estimated two million people who live with rare genetic diseases in Australia alone. Click here to find out more: ow.ly/2IN350VLKqx
Our paper now published! 🙌🏻🧬🫀 @alexbutters25.bsky.social @k-jt.bsky.social @njhenden.bsky.social @dgmacarthur.bsky.social @kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social doi.org/10.1093/eurh...
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen
doi.org
Thanks for having me @matt-the-gc.bsky.social always excited to chat cardiac genetics!
Matt Burgess@matt-the-gc.bsky.social · 2y agoThank you Dr Laura Yeates @laurayeates1.bsky.social for such an interesting chat about cardiac genetics and more on my podcast Demystifying Genetics. Thanks TrakGene, @buzzsprout.bsky.social & Angelica Figuerres #GeneChat #DemystifyingGenetics
Delightful to meet with colleagues at the 2025 NSW CVRN Showcase and Ministerial awards. This year on beautiful Gadigal lands at Sydney Opera house! The room is packed with dedicated researchers trying to better the heart health of all Australians ❤️ @garvaninstitute.bsky.social
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...
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…
sciencedirect.com
Days like this is why we love a hot Christmas!! Can’t beat a double swim in the Pacific and lunch with the fam. Cricket starts tmr 💥💥 Happy Christmas! 🎄😎🏖️☀️🌊🦘🇦🇺
We are HIRING a postdoc! Are you into cardiovascular genomics? Does gene discovery and rare variants get you out of bed!? OMG, me too! Unfortunately i can't apply for this role, but YOU CAN! Come join our research lab at @garvaninstitute.bsky.social Sydney 🇦🇺 #genesky www.seek.com.au/Garvan-Insti...
a beach with a lot of people on it
ALT: a beach with a lot of people on it
media.tenor.com
It’s official! Such a joy to graduate at beautiful @sydneyuni.bsky.social Great Hall with my PhD!!! A huge thanks to my supervisors esp @jodieingles27.bsky.social Huge thanks to Heart Foundation & NHMRC for their scholarship to make this all possible! @garvaninstitute.bsky.social #PhD #GCPhD 🎓❤️
Hello friends! Finally made my way over to Bluesky! Hopefully the platform lives up to the name. Now to find everyone to follow again! thanks for the starter parks @jodieingles27.bsky.social super helpful! Beautiful blue skies in Sydney today ☀️😎🇦🇺
