🔥The 9th Round of Easy Loan, Earn $40 Reward is in progress❗️ ⏰ Promotion Period: January 15th - Feburary 15th, 2025 👉 Register now and check more details at gate.io/campaigns/358

Today is Rare Disease Day. Jenny Downs recently joined our SMAB. She shares the importance of improving outcomes for patients with SCN2A We thank Jenny for her ongoing commitment to developing measurement tools for DEEs. #rarediseaseday24 #SCN2AAwareness #GlobalAdvocacy #SCN2A

Hot off the press!🔥 📰 A new issue of the HTAi Review is available now! Catch up on the latest news and new opportunities to get involved in our global HTA community ➡️ htai.org/htai-review-ma…

A new study by our team, in collaboration with Australian Genomics, highlights priority indicators for assessing the value of genomic testing in rare diseases, a much-needed effort to standardise evidence generation. Read more here: pubmed.ncbi.nlm.nih.gov/38459833/ #Genomics #RareDiseases

Looking forward to presenting tomorrow on consumer perspectives across HTA in paediatric populations at the ISPOR Australia Chapter - Measuring and valuing paediatric health-related quality of life for use in economic evaluation: Issues and solutions QUOKKA Research Program

Results are looking 👌🏼

It’s the GETA 🧬🧠 conference 2024 - which not solely a hub for groundbreaking scientific presentations (re genetic epilepsies) but also a vital support network for families! Featuring Prof Ingrid Scheffer - Chair of Paediatric Neurology at University of Melbourne & Senior Principal Research

Join us for GETA 2024#

And we are off and running!

Studies in children with autism have enhanced pitch discrimination and a better ability to recognise patterns in music. #GETA2024 #autism #epilepsy #DEE

"I want my ASO" message from the GETA attendees to Professor Steve Petrou from Praxis Medicines #GETA2024 #DEE #epilepsy #

Up to 58% reduction in seizures over usual treatment with PRAX-222 #GETA2024 #SCN2A #ASO

What drives success in treatments for rare epilepsies? Engagement and partnership with patient groups. #SCN2A #geneticepilepsy #GETA2024 #ASO

What drives success in treatments for rare epilepsies? Engagement and partnership with patient groups. #SCN2A #geneticepilepsy #GETA2024 #ASO

"Rare epilepsies, as a group are not so rare, 1 in 591 children have a DEE" Prof Ingrid Scheffer #GETA2024 #DEE #raredisease

📢 The countdown is on to HTAi 2024 Seville📢 Join us to hear the key takeaways - HTAi Seville Register to join Ann Single, Jessica Bean and our Patient Voice Partners, Kris Pierce, Melanie Funk & Karen van Gorp. Register here: eventbrite.com.au/e/patient-comm…

Join me for a global conversation on #NavigatingHealth & hear from leaders addressing the challenges to better enable navigation across healthcare 🗓 Wednesday 17th July 🕛 6am 🇺🇸 EDT 11am 🇬🇧 BST 🇸🇬 6pm 🇦🇺 8pm AEST 🚀 lnkd.in/gvy-kKUd - REGISTER HERE

🚀 Join our study & please retweet Refine semi-automated tools for genetic variant classification. 👩‍⚕️ Who? Medical pros & researchers 🧬 What? Classify variants using novel interfaces 💡 Why? Shape the future of decision support in genetics Link: go.uth.edu/geneportalstudy

Listening to Anne Hollonds at the National Press Club. Children are telling us they want help earlier. 1 in 3 children are living in a home with violence.

I'm speaking at #LuminesceAlliance2024 (UNSW). Join me @ Session 4.1 No one left behind: truly engaging families in precision medicine (Thurs 7 Nov). My talk will be on how we engage consumers in this emerging field. REGISTER HERE: luminesceallianceconference.org.au

Compassionate access to Elsunersen has been life changing for Eva and her family.