
Seb Lunke
@genomeseb
#Genomic #MedicalScientist, technophile, progress enthusiast. All views my own.
ID: 724350821194854400
24-04-2016 21:34:28
888 Tweet
632 Followers
533 Following

On now in A3, the new gene ๐งฌ discovery of the year: RNU4-2 is a frequent cause of DD/ID. A fantastic, whirlwind collaboration to have been part of ๐คฉ Yuyang Chen Nicky Whiffin Daniel MacArthur Anne O'Donnell-Luria and many more ๐๐๐



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/s4159โฆ - with Prof Arri Coomarasamy OBE MBChB MD FRCOG FMedSci Ioannis Gallos Tracy Roberts Eleanor Williams ... Uni of Birmingham University of Melbourne ๐งต

Out now Nature Medicine ๐ฅ๐ฅ #genomic NBS: the challenges are daunting But we have a responsibility to lead research in public health systems ๐ฌ๐ง๐ฆ๐บ Exeter Rare Disease Richard Scott Siddharth Banka Louise Fish Sarah Wynn Dominic Wilkinson James Buchanan Daniel MacArthur nature.com/articles/s4159โฆ

๐ฃ 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 ๐ฆ๐บ ๐rdcu.be/dLzRV ๐Stephanie Best Erin Tutty Dr Alison Archibald Lilian Downie Prof Clara Gaff A/Prof Danya Vears Seb Lunke



Sooooo excited to be doing this with you Daniel MacArthur and building on the ๐ช collaborations we have established in automation for #raredisease diagnosis ๐ค๐ค๐ค Victorian Clinical Genetics Services (VCGS) Murdoch Children's Research Institute (MCRI) #translation ๐ค๐งฌ

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! (Hereโs a Thor-themed fist bump to celebrate ๐ฅณ)


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/s4159โฆ



Excited to receive VMRAF ๐ฐ 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-researโฆ Murdoch Children's Research Institute (MCRI) Victorian Clinical Genetics Services (VCGS)

๐๐๐Looking 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




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

