CONFERENCE AGENDA:
 
Wednesday, July 16: Evening Reception
5:30 PM - 7:30 PM | Casual Welcome Gathering
 
Thursday, July 17: Research Day
​8:00 AM - 9:00 AM | Registration, Breakfast Networking, and Childcare Check-in

9:00 AM - 9:30 AM | Opening Remarks

• Marie-France Gervais and Tim Stuart, Co-Presidents - Welcome Address

• Sabrina Merchant, MD, DLG4 SHINE Foundation Director of Science and Clinical Development - Introduction to the Scientific Conference and Speakers

• Alexandre White-Brown, MS, CHEO - Genetics 101: Understanding DLG4 SHINE Syndrome
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9:30 AM – 11:30 AM | Scientific Session 1: Gene and Clinical Aspects of DLG4

• Zeynep Tümer, MD (Copenhagen University Hospital, Rigshospitalet): Disease mechanism, clinical outcome, and the path forward

• Thomas Dye, MD (Cincinnati Children’s Hospital Medical Center): An Introduction to Sleep in Neurodevelopmental Disorders

• Katina Calakos, PhD (Simons Searchlight): Simons Searchlight Registry Update

• ​Q&A panel Discussion moderated by Alex MacKenzie, MD (CHEO)

11:30 AM – 12:30 PM | Lunch

​12:30 PM – 2:30 PM | Scientific Session 2: In Vitro and In Vivo models of DLG4 variants

• Sharon Tamir, MD (Hogenesch lab, Cincinnati Children’s Hospital Medical Center): Novel Mouse Models of SHINE Syndrome and What it Can Teach Us

• Dr. Parul Varma, MD (The University of Texas at San Antonio): Developing Patient Derived In Vitro Neuronal Models for DLG4-associated Rare Brain Disorder

• Luisa Coelho, MS (University of California San Diego): Development Brain Organoids as a Model to Study DLG4 Synaptopathy

• Q&A panel discussion moderated by Alex MacKenzie, MD (CHEO)

1:00 PM - 4:00 PM | Sibling Teambuilding
An opportunity for siblings to get to know one another, share stories, and bond.
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2:30 PM – 3:00 PM | Coffee break

3:00 PM – 5:30 PM | Scientific Session 3: Emerging Therapeutics

• Alysson Muotri, PhD (University of California San Diego) - Development and Testing of an AAV9 Vector Gene Therapy

• Rami Aqeilan, PhD (Hebrew University of Jerusalem): Unraveling DLG4 in Synaptopathies: From Mechanism to Gene Therapy in SHINE Syndrome

• Gerardo Medina, PhD (CHEO): Restoring Synaptic Integrity in SHINE Syndrome: Insights from a Targeted Drug Repurposing Screen 

• Kim Le, PhD (Neurophase Therapeutics Copenhagen): Biomolecular Condensates - a Novel Drug Target for Treating Neurodevelopmental Disorders

• Q&A panel discussion moderated by Alex MacKenzie, MD (CHEO)

6:30 PM – 9:30 PM | Dinner

• Informal networking for caregivers, patient advocates, junior and senior scientists.

 
July 18, 2025: Family and community-building events
8:00 AM – 2:00 PM | Biorepository Sample Collection
Phlebotomists on-site to collect patient samples for Simons Searchlight and the COMBINEDBrain DLG4 SHINE biorepository.
 
9:30 – 11:30 AM | Community-focused sessions

•  Foundation board member panel - FDA Patient Listening Session overview and community-led conversation about foundation priorities

•  Community engagement - Roundtable conversation about community goals and needs

• Payal Patel (DLG4 SHINE Vice President of Development) - closing Address 

 
11:30 PM – 2:30 PM | Lunch
 
2:30 PM – 4:30 PM | Group activity: Summer fair activities featuring balloon artists, face painters, animals, magicians, and karaoke
 
6:30 PM – 9:30 PM | Dinner & Community Celebration Event
“Our Night to SHINE” dance party celebrating our “DLG4 SHINEing Stars”:

• Pizza dinner 

• ​Photo Booth

• DJ & Dancing

 
ADDITIONAL IMPORTANT INFORMATION ABOUT THE EVENT

Photography & Videography
Throughout the conference, videos and photographs will be taken for use on social media, the Foundation website, and for other promotional purposes to help spread awareness about our DLG4 SHINE community. Please complete this form indicating whether you approve use of you and your family's likeness.
 
Childcare Document
A Consent & Release Form from our childcare team needs to be completed to identify emergency contact details, food restrictions, medication needs, and other instructions. This document needs to be completed prior to July 10 to ensure your child's needs can be met.
 
Parking
Hotel parking is located in a parking garage detached from the hotel. Cost per day per vehicle is $14.00. Please review the hotel's website for details: https://www.hilton.com/en/hotels/ewrmkup-watt-hotel-rahway/hotel-location/ 
 
Breakfast
Please note that breakfast is not included in the room cost. We have negotiated a flat rate for breakfast of $10 for conference attendees. If you choose to have breakfast at the hotel, please be sure to mention that you're attending the conference to take advantage of this rate.