On now in A3, the new gene 🧬 discovery of the year: RNU4-2 is a frequent cause of DD/ID. A fantastic, whirlwind collaboration to have been part of 🤩 Yuyang Chen Nicky Whiffin Daniel MacArthur Anne O'Donnell-Luria and many more 👏👏👏

Genomics England Ruby Dawes In Q&A, (Elizabeth) Emma Palmer (she / her) thanks Yuyang for making the work available early as a preprint to facilitate rapid diagnosis, and highlights the impact on families. 🔥

Starting now in A6/7 #eshg2024 Nonsense mediated mRNA decay: variant interpretation challenges with Jozef Gecz and Seb Lunke

In a new paper published in Nature Medicine, we show that E-MOTIVE Trial early detection & bundled treatment of #postpartum_hemorrhage is cost-effective Paper nature.com/articles/s4159… - with Prof Arri Coomarasamy OBE MBChB MD FRCOG FMedSci Ioannis Gallos Tracy Roberts Eleanor Williams ... Uni of Birmingham University of Melbourne 🧵

Out now Nature Medicine 🔥🔥 #genomic NBS: the challenges are daunting But we have a responsibility to lead research in public health systems 🇬🇧🇦🇺 Exeter Rare Disease Richard Scott Siddharth Banka Louise Fish Sarah Wynn Dominic Wilkinson James Buchanan Daniel MacArthur nature.com/articles/s4159…

📣 our latest BabyScreen+ paper now out European Journal of Human Genetics Process changes needed to deliver #genomic NBS: what, when and who? Key informant interviews 🇦🇺 👉rdcu.be/dLzRV 👏Stephanie Best Erin Tutty Dr Alison Archibald Lilian Downie Prof Clara Gaff Dr Danya Vears Seb Lunke

The diagnosis of rare genetic disorders is one of the places where AI will have the earliest and largest clinical impact. Delighted to be leading a new consortium to help make this happen, along with an awesome team of Australian and global partners: mcri.edu.au/news/funding-a…

Sooooo excited to be doing this with you Daniel MacArthur and building on the 💪 collaborations we have established in automation for #raredisease diagnosis 🤗🤗🤗 Victorian Clinical Genetics Services (VCGS) Murdoch Children's Research Institute (MCRI) #translation 🤖🧬

Prof Zornitza Stark Victorian Clinical Genetics Services (VCGS) Murdoch Children's Research Institute (MCRI) Stoked that we get to extend our already hyper-productive work together in a whole bunch of fun new directions, and help so many more patients! (Here’s a Thor-themed fist bump to celebrate 🥳)

Exited to be part of this new initiative! The promises of AI are many fold, this project will help us harness them the right way to help more people with rare genetic diseases.

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Comment from Prof Zornitza Stark and colleagues Australian Genomics Great Ormond Street Hospital for Children Genomics England nature.com/articles/s4159…

Translating the outcomes of this project will be transformative for mainstreaming #genomics in Australian healthcare. Exciting times!

1/2 New article in Australian Geographic Australian Geographic: Understanding Indigenous DNA by Owen Cumming (5 June 2024). Azure Hermes Azure Hermes and Alex Brown Black Ochre Omics reveal robust genomic diversity in Indigenous communities.John Curtin School of Medical Research, ANU ourANU

Excited to receive VMRAF 💰 by Victorian Government @VicGov_DJSIR to pilot Oxford Nanopore to detect repeat expansion disorders! This will enable us to substantially improve #genetic #diagnosis for many #neurological conditions. djsir.vic.gov.au/medical-resear… Murdoch Children's Research Institute (MCRI) Victorian Clinical Genetics Services (VCGS)

👏👏👏Looking forward to working on this together Seb Lunke Oxford Nanopore Victorian Clinical Genetics Services (VCGS) Murdoch Children's Research Institute (MCRI)

#InternationalNeonatalScreeningDay: A call for global implementation of neonatal screening programmes. Read at bit.ly/3XvNIDQ @screen4rare #PressRelease

The most exciting part for me will be seeing how this work will improve the lives of those suffering from hard to diagnose neurological and neuromuscular genetic disorders.

Congrats to #MCRI's A/Prof Sebastian Lunke who has received a Victorian Medical Research Acceleration Fund grant to develop a faster technique to screen for rare #genetic disorders. | #MCRIresearch #Grants #RareDisease #Genetics ➡️mcri.edu.au/news/awards/as…

Looking forward to the partnership between Murdoch Children's Research Institute (MCRI) Victorian Clinical Genetics Services (VCGS) and Oxford Nanopore becoming prosperous for numerous patients. Innovative times ahead!! Seb Lunke #RareDisease #genetics

New publications from Australian Genomics & Murdoch Children's Research Institute (MCRI) in AJHG led by A/Prof Amy Nisselle & Bronwyn Terrill aim to improve #genomicmedicine #education for healthcare professionals through rigorous evaluation, ultimately to provide better health outcomes for Australians. 1/4