
MCRI - Translational Centre for Speech Disorders
@mcri_speechlang
Examine speech & language in rare genetic disorders in children to better understand communication to help develop better targeted therapies.
ID: 1207809900954308609
http://geneticsofspeech.org.au 19-12-2019 23:48:21
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274 Followers
92 Following

1st October is #CACNA1C Awareness Day. Check out the reel from Timothy Syndrome Alliance (TSA) for more information on this rare genetic condition and its impact on children and families. #CACNA1C. ➡️instagram.com/p/DAkKndpy2l1/




Miya St John of Murdoch Children's Research Institute (MCRI) is conducting a study on speech and language in individuals with KAT6B and is currently recruiting participants. If you or a KAT6 loved one are interested in participating, email Miya at [email protected]. MCRI - Translational Centre for Speech Disorders Natacha Esber



Congrats to CRE team member Miya St John who will use these funds to present at the International #KdVS Summit and learn a long-established therapy for Childhood Apraxia of Speech with our American colleagues.






Today is #PURA awareness day! On Oct 13 @mcri_speechlang & PURA Foundation Australia raised funds & awareness at Melbourne Marathon Festival for this condition. For those with #PURA, talking is a challenge. We are starting to research communication in #PURA. We thank PURA Foundation Australia for their support.



We are continuing to recruit child and adult participants with NRXN1 deletions to participate in a study looking at #speech, #language, #thinkingskills and #mentalhealth in this condition. Interested families or clinicians can email [email protected] for more information!





Profs. Morgan, Amor & collaborators, inclduding #genetic #counsellors Christy Atkinson, Mariana Lauretta & Quan Lee, have published parent's views & experiences of #genetic testing for their child’s #CAS &/or #Dysarthria in European Journal of Human Genetics 🧬 🔗Free access: rdcu.be/d2TAm
