Graphic of megaphone and speech bubbles with text underneath.
Text calls for feedback on a new tissue-targeted consent package that provides guidance for health professionals, patients and families.
https://www.tinyurl.com/5a7jr28b
Consultations close on 28 April.
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 ๐
www.tinyurl.com/5a7jr28b
02.04.2025 03:56 โ ๐ 4 ๐ 4 ๐ฌ 0 ๐ 0
๐ Make an Impact with #Shariant โ Advance National Genomic Knowledge Sharing! ๐งฌ
Weโre looking for a Senior #SoftwareDeveloper or Clinical #Bioinformatician with #genomics expertise to join the team.
๐ More info ๐ tinyurl.com/shariant
โฐ Applications close 10th March.
#hiring #Australia #healthcare
23.02.2025 23:48 โ ๐ 1 ๐ 2 ๐ฌ 0 ๐ 0
The integration of genomic profiling and precision oncology into Australiaโs cancer care system could transform our approach to one of the nationโs leading causes of death, says a report out today!
Read it here ๐ bit.ly/AGCCA-report
#WorldCancerDay #RareCancersAustralia #genomics #precisiononcology
04.02.2025 06:08 โ ๐ 5 ๐ 1 ๐ฌ 0 ๐ 0
im seated!
04.02.2025 23:19 โ ๐ 1 ๐ 0 ๐ฌ 0 ๐ 0
๐ฃ Out now in Genetics in Medicine:
Ultra-rapid genomic testing in mito disease โฑ๏ธ๐งฌ๐ฆ๐บ
๐ authors.elsevier.com/a/1kDPZ3vlFV...
Broad analysis and functional genomics for best outcomes ๐
@ausgenomics.bsky.social @thorburnmito.bsky.social @mitochondrially.bsky.social @scott-lab-gmp.bsky.social
09.12.2024 06:22 โ ๐ 22 ๐ 7 ๐ฌ 0 ๐ 1
Thereโs still time to register for the GCR Connect End of Year Showcase happening tomorrow!
03.12.2024 05:33 โ ๐ 2 ๐ 1 ๐ฌ 0 ๐ 0
A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders
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
01.12.2024 06:46 โ ๐ 3 ๐ 2 ๐ฌ 0 ๐ 0
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 ๐ mcri.zoom.us/webinar/regi...
18.11.2024 09:07 โ ๐ 7 ๐ 3 ๐ฌ 0 ๐ 2
๐
๐๏ธ๐งโโ๏ธ
28.11.2024 04:57 โ ๐ 0 ๐ 0 ๐ฌ 0 ๐ 0
thank you Steph!!
27.11.2024 20:52 โ ๐ 1 ๐ 0 ๐ฌ 0 ๐ 0
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
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 ๐งฌ. Take a peak!
doi.org/10.1038/s414...
27.11.2024 06:12 โ ๐ 8 ๐ 3 ๐ฌ 1 ๐ 1
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...
๐ฃ Today the World Health Organization's #Genomics Program launched its new principles for the ethical human genome data collection, access, use and sharing. ๐๐งฌ
Read more & access the full document here ๐ www.who.int/news/item/20...
#WHO#globalhealth #data #equity
#collaboration #research
21.11.2024 06:02 โ ๐ 19 ๐ 8 ๐ฌ 0 ๐ 0
The Genomic Health Record unifying and standardizing genetic care, complete with #pedigree drawing, risk assessment, #HPO phenotyping, and more.
Cancer genomics in Melbourne, Australia, at day. Board games - https://instagram.com/fiamh_bgg - and dog training - https://instagram.com/totoro.the.lappie - at other times. He/him.
Senior Researcher at the University of Melbourne, Australia | Closing the diagnostic gap for rare diseases with rapid proteomics
Team Leader genomics in society| Murdoch Children's Research Institute; Associate Professor | The University of Melbourne
https://linktr.ee/genomicsandhealth
http://linkedin.com/in/belindamcclaren
Functional Genomics | Clinical Proteomics | Rare Disease
Behavioural scientist dedicated to understanding and addressing the psychosocial needs of people impacted by a serious health condition - current inherited retinal diseases & AMD
โญ๏ธ Postdoc, UNSW
โญ๏ธ Senior researcher, CMRI
โญ๏ธ Fulbright Scholar
One half of GCChat Podcast ๐๏ธ Genetic counsellor (FHGSA) and project officer in NSW, Australia โ๏ธ
Based at the University of Queensland, our research aims to improve accessibility and equity of genomic testing across all healthcare settings๐งฌ
Researcher in implementation science
๐งฌ๐จโโ๏ธAcademic Consultant in Clinical Genetics ๐ฌ ESHG Social media chair. ๐ค @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
๐จโโ๏ธ UK Clinical Genetics SpR/Resident (OOPR)
๐งฌ PhD Researcher @fbmh-uom.bsky.social #RareConditions #Genomics #MentalHealth #DataScience @mft-imrare.bsky.social
๐ Proud Husband/Dad/Son/Sib + ๐ญ๐จ๐พโฝ๏ธ
@PacBio. ๐งฌ
Views are my own.
Research Genetic Counsellor
Genetics and Molecular Pathology Lab. Genetics and Genomics. Diagnostics, translation and basic science!
Scientist into mitochondrial disease genetics, raising my two daughters, training PhDs and enjoying my married life. Opinions are my own. She/her
Principal Genetic Counsellor in cancer genetics in Ireland ๐ฎ๐ช Opinions my own