DLG4 Synaptopathy - SHINE Syndrome

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DLG4 Synaptopathy - SHINE Syndrome

Contact information, map and directions, contact form, opening hours, services, ratings, photos, videos and announcements from DLG4 Synaptopathy - SHINE Syndrome, Medical and health, P. O. Box 1273, Pleasant Grove, UT.

DLG4 SHINE Foundation supports families, funds PSD-95 research, and raises awareness of SHINE Syndrome—a rare disorder caused by DLG4 gene mutations affecting brain development.
*Managed by the board of the DLG4 SHINE Foundation

02/10/2026

✨ Your medical history offers researchers key insights into what it means to have DLG4/SHINE Syndrome.

Simons Searchlight's secure platform allows families worldwide to contribute to this vital work. Your medical history is the first survey we ask you to complete after you finish your registration because it contains some of the most important data researchers need.

As a thank you, you’ll receive a gift card for your time.

Are you a participant ready to complete this task? Go to http://bit.ly/Simons_Searchlight_Dashboard

*Not a Simons Searchlight participant? Sign up at http://www.SimonsSearchlight.org

02/09/2026

All month long and especially on February 28th, you can do one or a few of these very simple things to help us raise awareness.

It only takes a second to hit “share”, to tag , or to use the hashtag . But these small gestures have a lasting impact!

02/07/2026

DLG4 SHINE Syndrome is an ultra rare genetic condition caused by changes in the DLG4 gene, which plays a key role in brain development and communication between neurons.

Families may experience:
• Developmental delays
• Speech and motor challenges
• Epilepsy
• Sensory differences
• Cognitive and behavioral impacts

Because so few cases are known, awareness fuels discovery.
Share to help more families find answers and more researchers join the mission.

02/06/2026

Symbols are important! They help make an impact and strengthen communities!

For Rare Disease Day, there are two main symbols:
- The official logo created by EURORDIS, showing overlapping hands, and the colours pink, blue, green, and purple;
- The zebra and zebra stripes, representing the uniqueness of each rare disease and each patient.

On Rare Disease Day, show your support and help raise awareness by wearing one of these symbols or patterns!

02/05/2026

✨ Sharing your genetic lab report is an important step in helping researchers study DLG4/SHINE Syndrome. Can’t find it? The Simons Searchlight team is here to help you find this information and have resources on this FAQ page: https://bit.ly/Genetics_Lab_Report_FAQ

Together, we can strengthen our understanding and support our ever-growing community.

Are you a participant ready to complete this task? Go to http://bit.ly/Simons_Searchlight_Dashboard

*Not a Simons Searchlight participant? Sign up at http://www.SimonsSearchlight.org

02/04/2026

Like most things when it comes to rare diseases, Rare Disease Day is a patient-led initiative. It was started in Europe on February 29th 2008 and has since gained worldwide momentum. You can learn more at what-is-rare-disease-day
Help us keep that momentum going by sharing these posts and links!

02/03/2026

✨ Join Simons Searchlight, a trusted research partner funded by SFARI, and help us learn more about DLG4/SHINE Syndrome. By sharing insights on genetics, development, and more, you’ll become part of a secure, supportive community where families worldwide collaborate to drive discoveries and bring hope for future treatments.

As a participant, your data can be accessed by approved external researchers for their projects and publications, accelerating the development of better therapies for rare neurodevelopmental genetic disorders. Empower yourself with knowledge and connect with a global research community—your journey helps drive discovery!

Participation is available in English, Dutch, French, Spanish, German, Italian, or Portuguese. Register today at SimonsSearchlight.org!

02/02/2026

As we start Rare Disease Month, here are a few simple facts about what makes a disease a Rare Disease.
All of these facts are true for DLG4 SHINE Syndrome: it affects way fewer than 1 in 200,000 people, starts in childhood and it is a genetic disorder.
All month long, help us raise awareness for DLG4 SHINE and the thousands of other Rare Diseases.

02/01/2026

February is Rare Disease Month. It’s a time to recognize the 300 million people worldwide living with a rare disease.

For families affected by DLG4 SHINE Syndrome, awareness isn’t optional—it’s essential. Because research is limited and funding is scarce, every share, every conversation, and every new connection helps move science forward.

Join us in shining a light on DLG4 SHINE all month long.

Share this post to help us reach more families and researchers.

01/27/2026

Opportunity for Families to Participate in a Phenotyping Study!

Our research partners at Copenhagen University Hospital, Rigshospitalet in Denmark are conducting two phenotyping studies: one deep phenotyping of all individuals with SHINE Syndrome and another focusing on the phenotype in adults (16 years or older) with SHINE.

They are planning to complete both this year and are hopeful to have a complete picture of how DLG4 SHINE affects our loved ones in daily life.

Deadlines are:
March 1st (Adult study)
April 1st (Deep phenotyping)

If you are interested in participating and haven't already reached out, please contact Amanda Levy at marie.amanda.levy@regionh.dk.

To learn more about what a phenotyping study is and why it's important for DLG4 SHINE families to participate read more at https://www.dlg4shine.org/what-is-a-phenotyping-study

01/19/2026

Today's SHINEing Star is sweetie-pie Ella who needs all the yummy breakfast food she can get to run after her twin brother Theo!
You can read more about Ella and her peers on our website at https://www.dlg4shine.org/rare-stars

Image Description: a little girl with curly brown hair and big brown eyes wearing a pink shirt is sitting and looking at the camera
Text Reads: DLG4 SHINEing Star; Favourite foods: Pasta, breakfast food and strawberries; Favourite activities: Playing with and chasing twin brother Theo; Favourite TV Shows: The Wiggles; Favourite people: Twin Brother Theo; Biggest challenges: Communication and global developmental delays; Ella, Age 2, Texas, USA

12/26/2025

Just a few days left to make your end-of-year gift!

Every donation supports research, family programs, and hope for our loved ones.
Let’s finish strong.
www.dlg4shine.org/giving-tuesday

Address

P. O. Box 1273
Pleasant Grove, UT
84062

Telephone

+16132901982

Website

http://dlg4shine.org/

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