@GenomeSeb

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

 Melbourne, Victoria
Joined April 2016
  • Tweets872
  • Following515
  • Followers610
65Media
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@TJDaykin3 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_kids3 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@GenomeSeb28 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@GenomeSeb28 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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Translating the outcomes of this project will be transformative for mainstreaming #genomics in Australian healthcare. Exciting times!
Daniel MacArthur
@dgmacarthur25 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
@dgmacarthur25 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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Replying to @dgmacarthur @GenomicsEngland @RuebenaEDawes
In Q&A, @emmagenetics thanks Yuyang for making the work available early as a preprint to facilitate rapid diagnosis, and highlights the impact on families. 🔥
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More excellent @ExeterMed collaborative team science #ESHG2024 from @kartikchundru Describing how the discovery of novel transcripts in the developing human cortex could lead to new diagnoses in neurodevelopmental disorders Congrats @rbamford5 @JonMills20 @carolinefwright & all
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Breakthrough abstract! Mutations in RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Congratulations @AndrewMumford7 #danielgreene on this nice piece of work #eshg2024
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More on automated reanalysis in A1 #eshg2024 @DanyaVears @MCRI_for_kids What do professionals, patients and the public think? Many benefits but concerns about process issues, oversight by humans, consent and recontact
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