@GenomeSeb

#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.

 Melbourne, Victoria
Joined April 2016
  • Tweets872
  • Following516
  • Followers611
65Media
This 👇👇👇!!! I think data sharing is an absolute must, and can be done in a way that ensures privacy and patient autonomy while providing huge benefits to individuals, research and society. Even a small start is a start, let’s break down the silos. Please do!
Prof Zornitza Stark@ZornitzaS
8 Oct 2024
👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 rdcu.be/dWfsu @GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
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New publications from @AusGenomics & @MCRI_for_kids in @AJHGNews led by A/Prof Amy Nisselle & @bronwynterrill aim to improve #genomicmedicine #education for healthcare professionals through rigorous evaluation, ultimately to provide better health outcomes for Australians. 1/4
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Seb Lunke retweeted
Tim Daykin@TJDaykin
3 Jul 2024
Looking forward to the partnership between @MCRI_for_kids @TeamVCGS and @nanopore becoming prosperous for numerous patients. Innovative times ahead!! @GenomeSeb #RareDisease #genetics
Murdoch Children's Research Institute (MCRI)@MCRI_for_kids
3 Jul 2024
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/asso…
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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/asso…
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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.
Seb Lunke@GenomeSeb
28 Jun 2024
Excited to receive VMRAF 💰 by @VicGovAu @VicGov_DJSIR to pilot @nanopore to detect repeat expansion disorders! This will enable us to substantially improve #genetic #diagnosis for many #neurological conditions. djsir.vic.gov.au/medical-res… @MCRI_for_kids @TeamVCGS

Victorian Medical Research Acceleration Fund

djsir.vic.gov.au
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#InternationalNeonatalScreeningDay: A call for global implementation of neonatal screening programmes. Read at bit.ly/3XvNIDQ @screen4rare #PressRelease
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👏👏👏Looking forward to working on this together @GenomeSeb @nanopore @TeamVCGS @MCRI_for_kids
Seb Lunke@GenomeSeb
28 Jun 2024
Excited to receive VMRAF 💰 by @VicGovAu @VicGov_DJSIR to pilot @nanopore to detect repeat expansion disorders! This will enable us to substantially improve #genetic #diagnosis for many #neurological conditions. djsir.vic.gov.au/medical-res… @MCRI_for_kids @TeamVCGS

Victorian Medical Research Acceleration Fund

djsir.vic.gov.au
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Excited to receive VMRAF 💰 by @VicGovAu @VicGov_DJSIR to pilot @nanopore to detect repeat expansion disorders! This will enable us to substantially improve #genetic #diagnosis for many #neurological conditions. djsir.vic.gov.au/medical-res… @MCRI_for_kids @TeamVCGS

Victorian Medical Research Acceleration Fund

djsir.vic.gov.au
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Translating the outcomes of this project will be transformative for mainstreaming #genomics in Australian healthcare. Exciting times!
Daniel MacArthur
@dgmacarthur
25 Jun 2024
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-awa…
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Exploring the benefits, harms and costs of genomic newborn screening for rare diseases. Comment from @ZornitzaS and colleagues @AusGenomics @GreatOrmondSt @GenomicsEngland nature.com/articles/s41591-0…
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Replying to @ZornitzaS @TeamVCGS @MCRI_for_kids
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 🥳)
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Sooooo excited to be doing this with you @dgmacarthur and building on the 💪 collaborations we have established in automation for #raredisease diagnosis 🤗🤗🤗 @TeamVCGS @MCRI_for_kids #translation 🤖🧬
Daniel MacArthur
@dgmacarthur
25 Jun 2024
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-awa…
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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.
Daniel MacArthur
@dgmacarthur
25 Jun 2024
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-awa…
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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-awa…
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📣 our latest BabyScreen+ paper now out @ejhg_journal Process changes needed to deliver #genomic NBS: what, when and who? Key informant interviews 🇦🇺 👉rdcu.be/dLzRV 👏@drstephbest @erin_tutty @AlisonArchiba19 @drlildownie @ClaraGaff @DanyaVears @GenomeSeb
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Out now @NatureMedicine 🔥🔥 #genomic NBS: the challenges are daunting But we have a responsibility to lead research in public health systems 🇬🇧🇦🇺 @RDExeter @Rich_Genomics @smbanka @LouiseFish1 @swynn_unique @NeonatalEthics @jbuchanan_ox @dgmacarthur nature.com/articles/s41591-0…
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In a new paper published in @NatureMedicine, we show that @EmotiveTrial early detection & bundled treatment of #postpartum_hemorrhage is cost-effective Paper nature.com/articles/s41591-0… - with @arricoomarasamy @IoannisGallos @terobertsbham @e_vwilliams ... @unibirmingham @UniMelb 🧵

A cost-effectiveness analysis of early detection and bundled treatment of postpartum hemorrhage...

Nature Medicine - An economic evaluation of the E-MOTIVE intervention for postpartum hemorrhage (PPH) compared with usual care in 210,132 women, carried out from a healthcare system perspective,...

nature.com
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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 🤩 @quenchentin @nickywhiffin @dgmacarthur @AnneOtation and many more 👏👏👏
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Starting now in A6/7 #eshg2024 Nonsense mediated mRNA decay: variant interpretation challenges with @GeczSquadGoals and @GenomeSeb
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