Seb Lunke

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

[Seb Lunke @GenomeSeb]

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]

👉 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

👉 https://t.co/u81JZhxvfX

@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth

[Australian Genomics @AusGenomics]

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

[Tim Daykin @TJDaykin]

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]

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

➡️https://t.co/Npp5I1YRh2

[Ross Napoli @rossnapoli86]

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.

[RARE Revolution Magazine® @RareRevolutionM]

#InternationalNeonatalScreeningDay: A call for global implementation of neonatal screening programmes.

Read at https://t.co/Wa6sOM6dLQ

@screen4rare #PressRelease

[Prof Zornitza Stark @ZornitzaS]

👏👏👏Looking forward to working on this together @GenomeSeb @nanopore @TeamVCGS @MCRI_for_kids

[Seb Lunke @GenomeSeb]

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. https://t.co/lJbfGyb4Yy @MCRI_for_kids @TeamVCGS

[Victorian Clinical Genetics Services (VCGS) @TeamVCGS]

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

[Nature Medicine @NatureMedicine]

Exploring the benefits, harms and costs of genomic newborn screening for rare diseases.

Comment from @ZornitzaS and colleagues @AusGenomics @GreatOrmondSt @GenomicsEngland

https://t.co/GwpCu6OT10

[Daniel MacArthur @dgmacarthur]

@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 🥳)

[Prof Zornitza Stark @ZornitzaS]

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 🤖🧬

[Seb Lunke @GenomeSeb]

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]

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: https://t.co/Ldr2ixirrP

[Daniel MacArthur @dgmacarthur]

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: https://t.co/Ldr2ixirrP

[Prof Zornitza Stark @ZornitzaS]

📣 our latest BabyScreen+ paper now out @ejhg_journal

Process changes needed to deliver #genomic NBS: what, when and who?

Key informant interviews 🇦🇺

👉https://t.co/E3pa68T6ay

👏@drstephbest @erin_tutty @AlisonArchiba19 @drlildownie @ClaraGaff @DanyaVears @GenomeSeb

[Prof Zornitza Stark @ZornitzaS]

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

https://t.co/GakK209knx

[Ilias Goranitis @IliasGoranitis]

In a new paper published in @NatureMedicine, we show that @EmotiveTrial early detection & bundled treatment of #postpartum_hemorrhage is cost-effective
Paper https://t.co/hUAgPSq9Ld
- with @arricoomarasamy @IoannisGallos @terobertsbham @e_vwilliams ...
@unibirmingham @UniMelb
🧵

[Prof Zornitza Stark @ZornitzaS]

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 👏👏👏

[Prof Zornitza Stark @ZornitzaS]

Starting now in A6/7 #eshg2024 Nonsense mediated mRNA decay: variant interpretation challenges with @GeczSquadGoals and @GenomeSeb