In my experience as a cardiac genetic counsellor, I always ask the partner of the young SCA survivor how they are… and I’d say 99% leads to tears. Because of course they’re not ok. We have so much to do to improve care of families after SCA Laura Yeates #cardiotwitter

HGSA supports Rare Disease Day and all the individuals and families living with rare diseases. #RareDiseaseDay2024

Away for our lab retreat and reminded just how amazing these people are and how lucky I am! Everything was organised by the team❤️✨with huge shoutout to our lab manager Dr Alex Butters 👸🏻🥂✨🤩 Laura Yeates Natalie Stewart Jo Sweeting

I am pleased to share the Z-score for the largest #KCNH2 patch clamp dataset, which can be used as functional evidence within the ACMG variant classification framework. Hopefully this resource can help many individuals with #LQTS to get their #VUS reclassified. Happy to help.

2024 HGSA ASM - You’re invited! Looking forward to seeing you on the beautiful sunny Gold Coast in August. Conference dinner at SeaWorld. Stay a bit longer and enjoy some R and R after. We’re still trying to entice a certain Aussie actor to open the conference so please retweet!

Leaps forward in genetic science mean more Australians are able to undertake tests that help determine hidden health risks. But doing so can make them ineligible for life insurance, meaning some people are left with a difficult choice. #ABC730

My first guest for 2024 is Dr Jane Tiller

This episode is a beaut - we're talking genetic discrimination, something that could affect all of us.

Steaming now on Spotify Podcasts 🎙 Apple Podcasts
googlepodcast

Human Genetics Society of Australasia #genomics

And now I’m relaxed 😎 🏖️
#holidays

And just like that, four years comes down to a click!
My University of Sydney PhD thesis submitted!! 🎉🎉
Huge thanks to my amazing supervisors A/Prof Jodie Ingles Prof Chris Semsarian AM and Alison McEwen. And special thanks to the Heart Foundation and NHMRC for their support! ❤️

Exciting news out of Canberra today.

One step closer to robust consumer protection for Australians' genetic test results against discrimination by life insurers.

abc.net.au/news/2023-11-2…

16 years ago we met each other while studying University of Melbourne (1st pic 😆) & now as practicing genetic counsellors at our annual SIG Australasian Society of Genetic Counsellors (ASGC) (2nd pic). Time flies, and fashions change a lot.

Packed room for the first talk of day 2 of the ASGC Sig day to hear Maryanne Young speak about My Research Results Garvan Institute of Medical Research Australasian Society of Genetic Counsellors (ASGC) Human Genetics Society of Australasia

To finish off a great day at the ASGC SIG day - Sam Wake takes the stage to give the Judith Elber lecture. What a joy to hear from this legend!
Australasian Society of Genetic Counsellors (ASGC) Human Genetics Society of Australasia Victorian Clinical Genetics Services (VCGS) #Iamageneticcounsellor

A very successful parliamentary lunch today! Big thank you to our hosts Friends of Rare Disease Dr Freelander, Senator Askew and Dr Ryan Dr Monique Ryan MP. So much support for greater access to genetic counsellors! Thanks to all who attended!

Human Genetics Society of Australasia - we are so excited to continue celebrating genetic counselling awareness day at #parliament house! #gcad2023 #anzgeneticcounsellors #gcawarenessday #iamageneticcounselor

Go Laura Yeates👏 sharing her PhD at NSW CVRN about her remarkable work on COPE-SUD—an online community supporting families after experiencing sudden cardiac death. Good luck with your thesis, Laura! 🌟 #PhDResearch #SudenDeath #CardiacHealth

It is Genetic Counsellor Awareness Day! Garvan is very fortunate to have many research genetic counsellors, from a platform head, program director, PhD students, project managers, variant curators and of course, research GCs.

We're grateful for all their work!

A/Prof Jodie Ingles

Imagine thinking u can roll on into an era where genomic medicine is widely accessible & guides care, WITHOUT empowering the workforce trained to deliver it. How many genetic tests now have MBS item numbers? But the GC item number?…🙅🏻‍♀️ Happy genetic counsellor awareness day #GCAD

Just two cardiac genetic counsellors, talking genetic counsellor well-being and thematic analysis on genetic counsellor awareness day!
We love being genetic counsellors working across research & clinical spaces! ❤️🧬 A/Prof Jodie Ingles
#GCAD2023 Australasian Society of Genetic Counsellors (ASGC) Human Genetics Society of Australasia

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad_v4 #ASHG23 (1/11)