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Melbourne study, Australian-first: MEDIA RELEASE: Genomics almost triples genetic diagnosis in babies with severe hearing loss: melbournegenomics.org.au/media-centre/f…

Genomics benefits babies with hearing loss European Journal of Human Genetics David Amor Melbourne Genomics Health Alliance

Significant DNA test for children born with deafness caused by #ushersyndrome which removes the #diagnosticodyssey and gives families the opportunity to provide their child with the skills to better cope with #visionloss

Read the evidence European Journal of Human Genetics rdcu.be/bYVte babies with hearing impairment should be offered genomic sequencing, diagnostic yield tripled, management changed for 92% of those diagnosed

Great to see this finally out European Journal of Human Genetics! Massive congrats Lilian Downie David Amor Heidi Rehm Valerie Sung Seb Lunke Victorian Clinical Genetics Services (VCGS) Elly lynch m_martyn Melbourne Genomics Health Alliance! Building the #evidence for #genomics: rdcu.be/bYVte

Genomic sequencing should be funded and made accessible for children with hearing loss. Read about our publication nature.com/articles/s4143… Congrats Lilian Downie David Amor Melissa Wake Melbourne Genomics Health Alliance Elly lynch Murdoch Children's Research Institute (MCRI) The Royal Children's Hospital, Melbourne UniMelb MDHS m_martyn

Will genomics be part of the future of newborn screening? Read our latest #research Melbourne Genomics Health Alliance published Springer Nature in Genetics in Medicine, rdcu.be/b0Hei

Important findings to understand how we should introduce genomics into newborn screening

"Rare diseases are undergoing a genomics-driven revolution, with opportunities for early diagnosis, clinical trials and, in some instances, treatment now changing the landscape..." Read more about how genomics is changing care for #RareDisease here: insightplus.mja.com.au/2020/7/rethink…

Important evidence that creates a starting point for how we might implement genomic newborn screening Melbourne Genomics Health Alliance

So lucky to have such a fantastic clever Post-doc, Jing Wang, on my team #VicCHILD to #hearingloss #discoveries Murdoch Children's Research Institute (MCRI) UniMelb MDHS RCH Foundation

Dr Valerie Sung from Murdoch Children's Research Institute (MCRI) talks to 9News Melbourne about #Cytomegalovirus (CMV), the most common infectious cause of #deafness & #neurodisability. Click 👇 for CHAMP network's national guidelines on CMV & management of childhood hearing loss in Aus: newbornhearingscreening.com.au/champ-network/

Upskilling paediatricians in genomic testing for child #hearingloss #2023anhs Murdoch Children's Research Institute (MCRI) @CCCH_AU Lilian Downie thanks to Melbourne Genomics Health Alliance

2023 Federal Budget announced $13.1 million to introduce genetic testing for hearing loss in children. Research translation to impact & policy by Lilian Downie Melbourne Genomics Health Alliance Murdoch Children's Research Institute (MCRI) more info: mcri.edu.au/news-stories/c… now to work on clinician training & workflows @CCCH_AU

Which genes to include in #genomic newborn screening?🧬👶 Our BabyScreen+ list of 605 genes out now Genetics in Medicine and PanelAppAus 🇦🇺 Comparison with other gNBS studies: only 55 in common! 🌐Time to harmonise? gimjournal.org/article/S1098-… Seb Lunke Lilian Downie

Hot off the press: Our BabyScreen+ list of over 600 actionable genes and conditions that we screen for in our #gNBS pilot now published: gimjournal.org/article/S1098-… Thanks to the great work of Prof Zornitza Stark, Lilian Downie and many others.

Genomic newborn screening is coming but what should we screen for? BabyScreen+ gene list and comparison with international newborn sequencing gene lists now published! Prof Zornitza Stark Seb Lunke gimjournal.org/article/S1098-…

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 A/Prof Danya Vears Seb Lunke