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I’ve used these plain language summaries to share research - such a helpful resource from Lottie Gasparini @lottiegasp.bsky.social Dr Shaun Ziegenfusz (he/him) & colleagues!

Tomorrow is the rarest day of the year & rare disease day! @M4RareDiseases

Already #RareDiseaseDay2024 in Aus & so pleased to share with you our first-ever National Recommendations for Rare Disease Care rarevoices.org.au/national-recom… Huge thanks to the RArEST team, Rare Voices Australia ,our clinical working group and people living with rare who codesigned these!

Today is #RareDiseaseDay! We work with kids who have rare conditions affecting #speech & #language. Our research works to understand rare conditions to transform diagnosis, prognosis & enable precision therapies to improve outcomes! Murdoch Children's Research Institute (MCRI) UniMelb MDHS University of Melbourne

They’re all terminal. They all progressively rob kids of their cognitive and physical abilities. Bringing these disorders together makes them impossible to ignore. You can see a stationary list here: bit.ly/3uHAJmN #rarediseaseday #childhooddementia

DDX3X-NDD incorporates developmental delay, ID, autism and ADHD. We comprehensively profiled speech and language for the first time. Over half of assessed participants were minimally verbal. AAC is key to supporting communication. Lottie Morison onlinelibrary.wiley.com/doi/full/10.10…

Next week 7pm Thurs 18th April AEST we are holding a webinar for Aus and NZ families, caregivers, support workers & clinicians (& anyone else who would like to come!). You can email me at [email protected] to be sent the webinar details.

Congratulations Miya St John !

An engaging first day of the #GETA2024 conference hearing from families, clinicians, and scientists about genetic epilepsies. Also such a privilege to hear my supervisor Prof Ingrid Scheffer speak about #DEEs & precision medicine. GETA

Angela Morgan MCRI - Translational Centre for Speech Disorders our wonderful research team casting a speech and language lens on #DEE GETA Lottie Morison

Happy #KIF1A day! KIF1A Associated Neurological Disorder #KAND is a rare #genetic condition. Our team are working with KIF1A.ORG to better understand #Speech, #Language and Non-verbal #Communication in KAND. To learn more about the research visit: geneticsofspeech.org.au/media/b4vb0ofh…

Did you know kids with Childhood #Apraxia of Speech (CAS) can have challenges with fine and gross #motorskills? ✍🏽🏃‍♀️ 🗣️ We are recruiting for a study looking at the sensory and motor profiles in #CAS. Email for more info: [email protected] instagram.com/reel/C6XDqp_B9…

90 kids die from childhood dementia in Aus each year. A new podcast ep from The Briefing raises awareness + shares what ⬆️ researching funding means for kids living with childhood dementia & their families open.spotify.com/episode/2ac1eM…

The 14th of May is #Apraxia Awareness Day! Today our team is wearing blue to show support for Childhood Apraxia of #Speech #CAS awareness. To learn more about our research you can visit geneticsofspeech.org.au Murdoch Children's Research Institute (MCRI) Apraxia Kids

Plain Language Summaries of our team’s research on speech, language & cognition in 103 individuals with #KleefstraSyndrome are now available in English, Portuguese, French and Spanish via our website geneticsofspeech.org.au/genes/other-co… Summary proformas courtesy of Lottie Gasparini @lottiegasp.bsky.social & team

Prof Ange Morgan & I have worked with Unique to create a guide for #CDK13-related disorder. Unique's guides provide comprehensive, easily digestible info on many genetic conditions. The CDK13-related disorder guide is now available here: rarechromo.org/media/singlege…

kamala IS brat

October is #AAC awareness month. Augmentative and Alternative Communication can include #KeyWordSign, low-tech comm aides like communication books & high-tech comm aides like speech generating devices! ➡️Team member Jen Wong talks about AAC. instagram.com/p/DApFaulJq4Y/

Today is #InternationalStutteringAwarenessDay! See 👇 for some facts on #stuttering. We are still recruiting for our sub-group study on #stuttering. To register your interest ➡️ redcap.mcri.edu.au/surveys/?s=4HK….

Over the weekend I presented on speech & language phenotyping in CLN2 & CLN3 #BattenDisease @ the 2nd #LysosomalDiseaseSummit in Melbourne (hopefully we can share the paper soon!) #BDSRAAus BDSRA Foundation BDFA Murdoch Children's Research Institute (MCRI) MCRI - Translational Centre for Speech Disorders UniMelb MDHS UniMelb Speech Path