EveryLinkMatters

Every link we make to another human being, every link in our genetic code builds who we are. KBG Syndrome awareness. This account is run by the KBG Foundation.

[KBG Foundation @KBGFdn]

Let's TalKBG: learn about the KBG syndrome Natural History Study with #AcrossHealthcare CEO, @jasoncolquitt and #KBGfdn Chairman of the Board, Glenn Maughan. @daylightnerd
#KBGRegistry #KBGNHS #KBGsyndrome #everylinkmatters #KBGfdn #AcrossHealthcare.
https://t.co/VBTQBFVpCb

[KBG Foundation @KBGFdn]

Ready to raise awareness?

Check out our guide to request an official declaration or proclamation recognizing KBG Syndrome Awareness Day. . June 11 is coming soon!

Let’s do this!

https://t.co/rkXbB1pXbM

#kbgday2024 #kbgsyndrome #kbgfdn #everylinkmatters

[KBG Foundation @KBGFdn]

March 26th is International Epilepsy Awareness Day. Approximately 40% of people with KBG syndrome experience recurring seizures. We invite you to wear purple on the 26th to show your support for families living with epilepsy.

#KBGsyndrome #KBGFdn #everylinkmatters #purpleday2024

[EveryLinkMatters @everylinkKBG]

Thank you!

#ThankYou #RareDiseaseDay #RDD2024 #KBGsyndrome #everylinkmatters #KBGfdn

[KBG Foundation @KBGFdn]

Thank You to all that supported Rare Disease Day in honor of someone they know living with a rare condition. Never before have so many people raised their voices and their lights to say they see us! We see you too!

#ThankYou #RareDiseaseDay #KBGsyndrome #everylinkmatters #KBGfdn

[KBG Foundation @KBGFdn]

Diagnosis are occurring earlier and earlier in a patients life. While the average time to diagnosis is still around 7 long years, most KBG-affected individuals are diagnosed under the age of 21.
#KBGsyndrome #RareDiseaseDay #RDD2024 #KBGfdn #everylinkmatters

[KBG Foundation @KBGFdn]

Since 2011, the diagnostic criteria for a diagnosis of KBG syndrome means testing for variants in ANKRD11.

Learn more about ANKRD11 at https://t.co/datnVZgSeR

#KBGsyndrome #rarediseaseday #rdd2024 #KBGfdn #everylinkmatters

[KBG Foundation @KBGFdn]

KBG syndrome isn't just rare....it's ULTRArare.
#KBGsyndrome #RareDiseaseDay #RDD2024 #everylinkmatters #KBGfdn

[KBG Foundation @KBGFdn]

The KBG Foundation is giddy to announce that we will again be representing KBG syndrome at the NIH on Rare Disease Day with a poster AND a table! Registration is still open:
https://t.co/aCGRFq1gWV
See you there!
#KBGFdn #RDD2024 #RareDiseaseDay #KBGsyndrome #everylinkmatters

[KBG Foundation @KBGFdn]

Take a moment today to say 'thank you' to the Caregivers in your life.
#KBGfamily #KBGsyndrome #everylinkmatters #KBGfdn

[KBG Foundation @KBGFdn]

Abstract submissions for the 3rd KBG Syndrome Scientific Meeting are officially open. Submit your abstract by Feb 15th using the google form: https://t.co/GjsA9WNfOO
To attend, please email Dr. Lyon at [email protected]
#KBGsyndrome #everylinkmatters #KBGresearch

[KBG Foundation @KBGFdn]

If you are an adult or caregiver of an adult with KBG syndrome, this study is aimed at you! Share your voice, or the voice of your loved one by enrolling today!
https://t.co/ib17vuNW7D

#KBGsyndrome #KBGfdn #KBGresearch #everylinkmatters

[KBG Foundation @KBGFdn]

The University of Bristol in the UK, in collaboration with the KBG Foundation, is conducting a study to further understand KBG syndrome in adults.

To participate, KBG patients aged 16 or above should complete this online survey: https://t.co/1zfo18oU7h

Open until Feb 12, 2024

[Women & Children's Health Research Institute @WCHRIUofA]

Graduate student Kara Goodkey's research uncovers olfactory bulb abnormalities in KBG syndrome, showcasing the neural mechanisms behind this rare genetic neurodevelopmental disorder.

Goodkey is supervised by WCHRI member @AMVoronova.

#wchriRD2023

[KBG Foundation @KBGFdn]

Participated in the @KBGfdn Natural History Study? Open to anyone with a confirmed diagnosis and aimed to create the most in-depth cross-section of information about KBG to date. Learn more, sign up: https://t.co/lfhhE75T1W
#KBGregistry #KBGsyndrome #everylinkmatters #ANKRD11

[KBG Foundation @KBGFdn]

Thanks Holtrop family for sharing Oliver's story! Personal stories help others feel seen and accepted. Awareness of KBG syndrome means earlier and accurate diagnosis and a treatment! https://t.co/PMTIabSbsd

#KBGsyndrome #KBGfamilies #KBGawareness #everylinkmatters #ANKRD11

[KBG Foundation @KBGFdn]

@KBGFdn has awarded a 2023 Seed Funding Grant to @drkarenlow and @AllanBayat. They will work with the Foundation to study quality-of-life issues for adults with KBG syndrome. Congratulations! https://t.co/gXPrDRdAFO

#raredisease #KBGresearch #ANKRD11 #KBGfdn #everylinkmatters

[EveryLinkMatters @everylinkKBG]

If you or someone you love is diagnosed with #KBGsyndrome, join the newly launched IRB-governed Patient Registry that is also a Natural History Study! #patientregistry #KBGregistry

[KBG Foundation @KBGFdn]

The @KBGfdn has launched the first Natural History Study on KBG syndrome, open to all people with KBG syndrome. Read more about the study and how to participate https://t.co/GG8aMbMGbF

#KBGRegistry #everylinkmatters #KBGfdn #KBGresearch #ChangingLives

[KBG Foundation @KBGFdn]

Congratulations @GholsonLyon and @AMVoronova for your publication "Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome." We look forward to many more collaborations!
https://t.co/YO9W5kvmtQ

[KBG Foundation @KBGFdn]

"My father gave me the greatest gift anyone could give another person: He believed in me." —Jim Valvano"
Happy Father's Day!
#KBGDads #KBGsyndrome #KBGfdn #everylinkmatters

[Dr. Anastassia Voronova @AMVoronova]

We celebrated international #KBGSyndrome awareness day by preparing a manuscript on the role of Ankrd11, a KBG syndrome risk gene, in brain development, led by @karaboo_98. We hope to share the story at the next #KBGsyndrome scientific meeting! #RareDisease #KBGDay2023 cc @KBGFdn