DLG4 Synaptopathy - SHINE Syndrome

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DLG4 Synaptopathy - SHINE Syndrome

A page for people interested in learning more about
DLG4-related Synaptopathy / SHINE Syndrome
*Managed by the board of the DLG4 SHINE Foundation

09/08/2025

The message from today's beautiful SHINEing Star Louane couldn't be any clearer: she was born to SHINE!! ✨

Image description: a teenage girl with long hair is smiling. She's wearing a navy long sleeve shirt with the words "Born to shine" written in silver letter.
Text reads: DLG4 SHINEing Star; Favourite foods: Pasta and strawberries; Favourite activities: being with animals (her cat Cookie), seeing her friends, and taking a stroll; Favourite shows: the Netflix series “Go! Live Your Way” and Disney movies; Favourite people: Her sister Sofia and her cousin Alya; Biggest challenges: controling her emotions and anxiety; Louane, Age 15; France
The same same image mis repeated with the text in French

09/01/2025

🔍🧬 Every piece of information matters in rare disease research.

That’s why we’re proud to team up with our trusted partners at Simons Searchlight to spread the word about the Clinical Research ID (CRID).

A CRID is a simple way to link your data across different studies—helping researchers see the bigger picture and make meaningful advances faster. This connection is especially valuable for families with SHINE Syndrome.

Your privacy and security always come first. CRID data are encrypted, stored on secure servers, and your personal information will never be shared or sold.

✅ Creating your CRID is simple:

Visit TheCRID.org
Make a unique 8-character identifier
Share with your providers or studies

Add your CRID to your Simons Searchlight account at www.SimonsSearchlight.org.

Thank you for contributing to !

08/27/2025

Brag post alert!
We wanted to highlight the incredible contribution of our very own Sabrina Merchant during the conference.
Thanks to her expertise, connections, and generosity, she made it possible to organize and coordinate the addition of a large quantity and variety of bio samples to our repository for imminent and future research projects.
We couldn’t have done it without her and we are extremely grateful for her dedication!

See her board member profile at https://www.dlg4shine.org/dlg4-shine-board/sabrina-merchant%2C-md

08/20/2025

By participating in the Observer Reported Toileting Abilities Survey (ORTAS) Validation Study, families are given the opportunity to share their experiences about toileting experiences with researchers.

The information that we share will provide researchers with the information they need to:

✔️assess the full range of toileting abilities of people with neurodevelopmental disorders,
✔️understand how capabilities change over time, and
✔️identify commonalities among the DLG4 SHINE population.

By taking part in this pilot survey, you’ll be helping to ensure that future research reflects the real experiences and needs of our loved ones and create knowledge that can benefit our entire community.

Visit our website https://www.dlg4shine.org/observer-reported-toileting-abilities-survey to get started!

COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental

08/04/2025

The presentation recordings from the conference are now online and are packed with information!

Whether you attended the conference in person or virtually or are planning to watch for the first time, these are valuable resources for everyone in our community.

https://www.dlg4shine.org/conference-videos

07/28/2025

Today's SHINEing star is handsome Yomar who looks great in a suit and has impeccable taste in every category: music and sports, dogs and cars, his siblings and potatoes!
You can read about other SHINEing star at https://www.dlg4shine.org/rare-stars

Image description: A young man in a dark suit and green tie is sitting on a bench under a palm tree and smiling.
Text reads: DLG4 SHINEing Star; Favourite foods: Mashed potatoes; Favourite activities: Listening to music, soccer and football; Favourite Things: Dogs and cars; Favourite people: His siblings; Biggest challenges: Struggles with academics and independence, also terrified of birds; Yomar, Age 18; Florida, USA.

07/23/2025

As our community continues to grow, we wanted to provide an updated count of known DLG4 SHINE diagnoses by country.

07/17/2025

Today, July 17, is DLG4 SHINE DAY!

What better way for us to celebrate than by being together - in person and virtually - to hear from researchers about ongoing research, ask questions and discuss our children with them, and to bond together as families.

07/11/2025

One of our families conducted a Spring Cleaning Drive to raise funds to support the foundation's mission. In total, they raised $1,154.00.

We realize it was a lot of work and we appreciate your commitment to finding creative ways to fundraise. Thank you for your efforts!

07/09/2025

We look forward to welcoming these researchers at our conference next week and hearing about their research on the PSD-95 protein and DLG4 SHINE Syndrome.

Learn more about our all-star researcher line-up at https://www.dlg4shine.org/conference-speakers

Don’t miss out on hearing first-hand and asking questions! Virtual registration is still available at
https://www.dlg4shine.org/event-details/2025-dlg4-shine-scientific-family-conference-1/ticket-form

07/03/2025

We’re so grateful to Simons Searchlight for supporting our first-ever DLG4 SHINE Scientifc Research & Family Conference!

With your help, we’re building something truly special — a day where families can connect with researchers, share stories, and feel supported. Your generosity is helping bring this vision to life.

Thank you for being a part of this journey with us!

Address

P. O. Box 1273
Pleasant Grove, UT
84062

Telephone

+16132901982

Website

http://dlg4shine.org/

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