🌈 Sleep Survey Alert! 🌙💤

UQ, RCH, MCRI, Westmead are conducting groundbreaking research on sleep problems in children with Neurodevelopmental Disorders (ND)🌙💤

Fill out the survey: bit.ly/3u6QbIV

#SWANSleepSurvey #ResearchFriends #JoinTheStudy #voluntary

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…

🎙️Discover the future of genomics in Latin America with Claudia Gonzaga-Jauregui, PhD! She emphasizes the need for diversity, inclusion, and expanded newborn screenings to advance genomic research in the region. Listen to the full episode NOW: learning.ashg.org/p/season-three… #ASHG

Calling all KAT6B families! Murdoch Children's Research Institute (MCRI) is hosting a study on speech and language development in folks with KAT6B gene variants.

If you or a loved one has a gene change in KAT6B and would like to participate, please reach out via email to [email protected]. Miya St John

Don't miss out on @MarcFiume’s #DNAdialogue presentation “The future is federated: accelerating collaborative research with standards compliant federated networks”.

This Thurs 28 Mar at 9am (AEDT).

Register here: tinyurl.com/bdhzmadz

DNAstack #genomics #seminarseries

“The future is federated: accelerating collaborative research with standards compliant federated networks”: Join Australian Genomics for #DNAdialogue on Thu 28 March, 9am (AEDT).
Don't miss this opportunity to hear from Marc Fiume, DNAstack (Canada).
Register: tinyurl.com/mr26r85j

Fabulous epileptologist Anna Bochenek shares challenges & limitations of #neuromodulation treatments for #epilepsy : VNS, DBS, & RNS. It's about improving quality of life and reducing risk. Limitations of treatments must be effectively communicated to patients & families. Episode…

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

The future is federated: accelerating collaborative research with standards compliant federated networks”: Join Australian Genomics for #DNAdialogue on Thu 28 March, 9am (AEDT).

Don't miss this opportunity to hear from Marc Fiume, DNAstack (Canada).

Register: tinyurl.com/mr26r85j

🌟 Fact Friday Alert! 🌟

Did you know it takes an average of 4.8 years to receive a correct diagnosis.

#FactFriday #SWANC #Undiagnosed #RareConditions 🧬🔍

🌈 Sleep Survey Alert! 🌙💤

UQ, RCH, MCRI, Westmead are conducting groundbreaking research on sleep problems in children with Neurodevelopmental Disorders (ND)🌙💤

Fill out the survey: bit.ly/3u6QbIV

#SWANSleepSurvey #ResearchFriends #JoinTheStudy #voluntary

Honouring Rareness: Celebrating Rare Disease Day 2024! 🦢🎉

On this exceptional leap year day, we celebrate the rareness of our SWAN families. Each one is a testament to courage, resilience, and unwavering strength in the face of unique challenges.

Be a part of the awareness journey for Mitochondrial disease with Mito Foundation
Engage with our fact today and delve deeper into their work: mito.org.au
.
#RareDiseaseDay 2024 #LightUpForRare #ShareYourColours #RareDiseaseDay #geneticallianceaustralia #raredisease

Read this amazing story of a PhD student who is also a rare disease patient- and he has done research into his own condition! Way to go Ryan!

New podcast ep from George Taleporos featuring Helen Dickinson & Anne Kavanagh BMBS PhD FAFPHM FASSA FAHMS

🤗 Absolutely thrilled to see our #AcuteCare ⁦Australian Genomics⁩ work featured ⁦nature⁩ together with ⁦ExeterGenomes⁩ ⁦Rady Genomics⁩ ⁦euan ashley⁩ 🧬⏱️🤗 nature.com/articles/d4158…

🎉 We've Reached 900 Members! 🎉

SWAN is thrilled to announce that our community has grown to 900 members nationwide! That means we're supporting 900 families on their unique journeys!

Donate today: bit.ly/46oW9Sh

🌈 Sleep Survey Alert! 🌙💤

UQ, RCH, MCRI, Westmead are conducting groundbreaking research on sleep problems in children with Neurodevelopmental Disorders (ND)🌙💤

Fill out the survey: bit.ly/3u6QbIV

#SWANSleepSurvey #ResearchFriends #JoinTheStudy #voluntary

🌟 SWAN Fact Friday! 🦢✨ Did you know? More than 7,000 rare diseases have been identified, and new ones are discovered annually.

#rare #research #genetics #genomics #mcri #cmri #rch

'Confusion builds fear - and if we can be really clear about what....is best practice then that will help allay parents' fear.' #MCRI Prof Vicki Anderson discussed #concussion protocols for children on ABC Radio Melbourne⬇️| linkedin.com/posts/murdochc…