KdVS Foundation

Koolen-de Vries Syndrome (KdVS) Foundation is a non-profit organization promoting awareness and raising funds for this genetic syndrome.

[KdVS Foundation @KdVSFoundation]

Did you learn something new about KdVS on this podcast?

[Patient Worthy @PatientWorthy]

In this episode of the podcast, patient advocate Ashley Point discusses Koolen-de-Vries Syndrome (KdVS) and her son, Davis, who was diagnosed in 2016: https://t.co/XIqwthqDPk @KdVSFoundation

[National Organization for Rare Disorders (NORD) @RareDiseases]

Looking for a way to use your #GrantWriting skills to help a small #RareDisease nonprofit? Contact the @kdvsfoundation today! They are based in Wilmington, NC and looking for a volunteer grants officer.

Learn more and apply here: https://t.co/vn3bSEUYet

#KdVS #KoolenDeVriesSyndrome #KoolenDeVries

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

A new study led by MCRI and University of Melbourne researchers has discovered a link between a new gene pathway and structural brain anomalies in some people who stutter into adulthood. #stuttering #brain
https://t.co/PfLg9s7imX

[KdVS Foundation @KdVSFoundation]

@s_searchlight @curestxbp1 @FamilieSCN2A It was wonderful to have your team at the conference. Look forward to our continued partnership.

[KdVS Foundation @KdVSFoundation]

We awarded a Grant to Dr. Esmat Fathi at St. Jude Children's Research Hospital. Under the mentorship of Dr. Heather Mefford, Dr. Fathi will spend the next 12-18 months investigating molecular strategies to increase expression of _KANSL1. https://t.co/vnMvE1owN9

[KdVS Foundation @KdVSFoundation]

We were honored to be included among the rock star patient advocacy groups. Together with St Jude Children’s we will do great things!

[Dr. Heather Mefford @hcmefford.bsky.social @hcmefford]

IMPACTFUL 2 days discussing patient advocacy, engagement, gaps in #RareDisease @StJudeResearch #genetics #epilepsy @curechd2 @cureSYNGAP1 @RaidenScience @curedravet @FamilieSCN2A @YBRP4hnrnph2 @SCN8AAlliance @KdVSFoundation @Ring14USA @MalanSyndrome @cacna1a &more 💜🧬🧠💙🧬🧠

[KdVS Foundation @KdVSFoundation]

We are honored to be selected for Dr. Hans van Bokhoven’s work into KdVS. #KdVS

[CURE Epilepsy @CureEpilepsy]

Congratulations to our newest grantees! Learn more about their work and how it will impact the epilepsy community: https://t.co/bOStjwlDBB
#epilepsyresearch #epilepsygrant #grantees

@ErasmusMC
@childrensphila
@radboudumc_weet
@nymedcollege
@Axonis_US
@BrandeisU
@unibern

[KdVS Foundation @KdVSFoundation]

KdVSF and @CureEpilepsy announce a one-year $100,000 Rare Epilepsy Partnership Award to @hansvanbokhoven!

https://t.co/BF9v2RyxPr

\#KdVS #KdVSF #KoolendeVriesSyndrome #KdVSFoundation #RareEpilepsy #CUREEpilepsy #Grant

[KdVS Foundation @KdVSFoundation]

@goodfrognosis @DEE_Pconnection @pieceofkate https://t.co/OXbrerDV5O

[KdVS Foundation @KdVSFoundation]

@goodfrognosis @DEE_Pconnection @pieceofkate https://t.co/aMgykyc4FD

[Patient Worthy @PatientWorthy]

Becoming a Rare Role Model https://t.co/LS3mUCZyCl #KoolenDeVries #KoolenDeVriesSyndrome @BeckyTilley84 @KdVSFoundation

[KdVS Foundation @KdVSFoundation]

\#ShineYourSearchlight✨ Not enough is known about Koolen-de Vries Syndrome. Join our search for answers by signing up for #SimonsSearchlight and help us grow our community in 2023. Go to https://t.co/fXowYvUQqE to sign up for FREE! #KdVS #KoolendeVriesSyndrome #KdVSFoundation

[KdVS Foundation @KdVSFoundation]

@MCRI_SpeechLang @MiyaDStJohn @MCRI_for_kids Thank you for this amazing research. We greatly appreciate the entire team at @MCRI_SpeechLang @MiyaDStJohn 🥰🥰🥰

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

#KdVS individuals make communication gains beyond childhood & should continue to access targeted therapies throughout development.
Read the article here: https://t.co/6AN0b8LbsP
🧵5/5

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

Social competence, behavioural/emotional control, & coping skills were areas of relative strength for individuals with #KdVS. Communication difficulties impacted daily living skills as an area of comparative difficulty.
🧵4/5

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

Speech was characterised by apraxia #CAS (63.9%) & #dysarthria (45.9%) in verbal participants with #KdVS. #Stuttering was described in 76.6% of verbal participants & followed a unique trajectory of late onset & fluctuating presence.
🧵3/5

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

Most individuals with #KdVS were verbal (76.5%). Many minimally-verbal communicators used alternative and augmentative communication #AAC
🧵2/5

[MCRI - Translational Centre for Speech Disorders @MCRI_SpeechLang]

A new publication from our team on 81 individuals with #KdVS. 'Expanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature'. @MiyaDStJohn @MCRI_for_kids
Available here: https://t.co/6AN0b8LbsP
🧵1/5

[KdVS Foundation @KdVSFoundation]

Check out this commercial about KdVS. It’s based on a true story of friendships made through KdVS. #KdVS #KoolendeVriesSyndrome #raredisease When You're Connected, You're Not Alone https://t.co/mGZwrc2Lsr via @YouTube

[RARE Revolution Magazine® @RareRevolutionM]

Passing on a rare disease: a RARE mother’s journey from ‘blameless guilt’ to joy.
https://t.co/RtgNXF01uu