Sarah Casauria
scasauria16.bsky.social
Sarah Casauria
@scasauria16.bsky.social
Data Officer at @ausgenomics.bsky.social 🧬. REDCap nerd. Avid gamer. Views are my own (she/her)
Reposted by Sarah Casauria
Have your say on a new patient #consent package for tissue-targeted #genomic testing.

Tissue-targeted testing looks for somatic (acquired) genetic variants and is used in various conditions such as cancer and vascular anomalies.

Consultations close 28 April. More info 👇
www.tinyurl.com/5a7jr28b
April 2, 2025 at 3:56 AM
Reposted by Sarah Casauria
🚀 Make an Impact with #Shariant – Advance National Genomic Knowledge Sharing! 🧬

We’re looking for a Senior #SoftwareDeveloper or Clinical #Bioinformatician with #genomics expertise to join the team.

📌 More info 👉 tinyurl.com/shariant
⏰ Applications close 10th March.

#hiring #Australia #healthcare
February 23, 2025 at 11:48 PM
Reposted by Sarah Casauria
The integration of genomic profiling and precision oncology into Australia’s cancer care system could transform our approach to one of the nation’s leading causes of death, says a report out today!

Read it here 👉 bit.ly/AGCCA-report
#WorldCancerDay #RareCancersAustralia #genomics #precisiononcology
February 4, 2025 at 6:08 AM
Reposted by Sarah Casauria
An #AustralianGenomics study looking at unmet needs of #genomic testing found that on a per capita basis the rate of testing was higher in some “remote” areas compared with major cities.

Read more: www.australiangenomics.org.au/access-to-ge...

@stephaniebest.bsky.social @scasauria16.bsky.social
Access to genomic testing? Depends where you live — Australian Genomics
In a continent like Australia with its vast remote regions you might expect that access to genomic testing was highest in major cities with large hospitals and other health services. And you’d be righ...
www.australiangenomics.org.au
December 19, 2024 at 5:20 AM
Reposted by Sarah Casauria
📣 Out now in Genetics in Medicine:

Ultra-rapid genomic testing in mito disease ⏱️🧬🇦🇺

👉 authors.elsevier.com/a/1kDPZ3vlFV...

Broad analysis and functional genomics for best outcomes 🏆

@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
December 9, 2024 at 6:22 AM
Reposted by Sarah Casauria
There’s still time to register for the GCR Connect End of Year Showcase happening tomorrow!
Interested in hearing more about what Genetic Counsellors get up to in research? Join us for the GCR Connect End of Year Showcase on Wednesday 4th December and hear from 4 amazing GCs! @ausgenomics.bsky.social

Link to register 👉 mcri.zoom.us/webinar/regi...
December 3, 2024 at 5:33 AM
Reposted by Sarah Casauria
An important step towards the economic evaluation of #FunctionalGenomics! A #MicroCosting of mass-spectrometry based quantitative #Proteomics url.au.m.mimecastprotect.com/s/TeIxCxnMJ5... @ausgenomics.bsky.social
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
url.au.m.mimecastprotect.com
December 1, 2024 at 6:47 AM
Reposted by Sarah Casauria
Interested in hearing more about what Genetic Counsellors get up to in research? Join us for the GCR Connect End of Year Showcase on Wednesday 4th December and hear from 4 amazing GCs! @ausgenomics.bsky.social

Link to register 👉 mcri.zoom.us/webinar/regi...
November 18, 2024 at 9:07 AM
thank you Steph!!
Interested in mapping of #Genomic testing in Australia?

This is the paper for you.

Congratulations to @scasauria16.bsky.social for seeing this, long in the making, study to publication.
Thrilled to announce that #research conducted with @stephaniebest.bsky.social, @ausgenomics.bsky.social and other amazing colleagues is now published!

We explored the geographic distribution of rare disease #genomic testing across Australia 🧬. Take a peak!

doi.org/10.1038/s414...
November 27, 2024 at 8:52 PM
Thrilled to announce that #research conducted with @stephaniebest.bsky.social, @ausgenomics.bsky.social and other amazing colleagues is now published!

We explored the geographic distribution of rare disease #genomic testing across Australia 🧬. Take a peak!

doi.org/10.1038/s414...
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration - European Journal of Human Genetics
European Journal of Human Genetics - Assessing the unmet needs of genomic testing in Australia: a geospatial exploration
doi.org
November 27, 2024 at 6:12 AM
Reposted by Sarah Casauria
📣 Today the World Health Organization's #Genomics Program launched its new principles for the ethical human genome data collection, access, use and sharing. 🌎🧬

Read more & access the full document here 👉 www.who.int/news/item/20...

#WHO#globalhealth #data #equity
#collaboration #research
WHO releases new principles for ethical human genomic data collection and sharing
The World Health Organization (WHO) has issued a set of principles for the ethical collection, access, use and sharing of human genomic data. Created with guidance from the WHO Technical Advisory Grou...
www.who.int
November 21, 2024 at 6:02 AM