COMBINEDBrain Roadshow
Not able to make it to the STXBP1 Summit+ in Colorado but want to contribute biospecimens for some of the exciting projects being offered to the community by COMBINEDBrain? Consider joining them on the road!
COMBINEDBrain is a non-profit consortium of over 80 patient advocacy groups for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat/develop treatments for our children. They are on a mission to collect around 500 samples from our member organizations over the next 6-8 months and the STXBP1 Foundation is one of them. Samples collected from our community will be stored and available to researchers across the world.
Are you or one of your family members interested in participating in this exciting project for STXBP1?
2025 COMBINEDBrain Roadshow
Who: Any participant diagnosed with one of the disorders from the COMBINEDBrain consortium, like STXBP1, or unaffected sibling
What: COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in a CB Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by caregivers.
Where: COMBINEDBrain is collecting samples all across the country this year. Please see this list of locations to find the closest biorepository collection to you. You may attend ANY of these meetings. If you are unable to attend a conference, but are still interested in participating please reach out to the STXBP1 Foundation at research@stxbp1disorders.org.
Sample Size: Our goal is to collect 20 samples from each patient group.
How: Contact the STXBP1 Foundation at research@stxbp1disorders.org to further determine eligibility and the best way and location to participate.
ASG&CT
The American Society of Gene & Cell Therapy (ASGCT) is the primary membership organization for scientists, physicians, professionals, and patient advocates involved in gene and cell therapy.
The 28th Annual Meeting will be hosted in New Orleans, May 13-17, 2025
Our Scientific Director, James Goss, will be onsite representing the STXBP1-related disorders community.
And, our industry partner, Capsida will present progress updates of their CAP-002 STXBP1-DEE gene therapy.
Million Dollar Bike Ride
The Million Dollar Bike Ride is a signature event for the STXBP1-related disorders community.
The annual challenge brings over 750 fundraising-cyclists and volunteers to the University of Pennsylvania’s campus to ride 10, 32 or 70 miles around University City, Philadelphia. Teams can enter to represent individual rare diseases and receive matching funds for research into those conditions.
This is the 7th year Lulu’s Crew Team STXBP1 is riding and they are nearing a HUGE milestone of raising $1 million to date.
Learn all about this impactful fundraising campaign and how you can help on this detailed page here.
2025 STXBP1 Summit+
We’re back west in Colorado for our annual Summit+ Family Meeting in 2025.
Please hold the date!
Friday, July 18 through Sunday, July 20
Westin Westminster
See the recap from our 2024 STXBP1 Summit+ and all our past conferences on our Past Conferences archive page
2nd European STXBP1 Summit & STXBP1 Research Roundtable
In 2025 we’re back in Europe for our next Research Roundtable meeting and 2nd European Family Summit+
See us in Heidelberg Germany in 2025:
8-10 Oct 2025: Research Roundtable
11 Oct 2025: Family Summit+
You can find details on the program, registration, the venue, and more at the conference site: https://stxbp1summit2025.eu/
See the recap from our 1st European STXBP1 Summit+ and Research Roundtable in Milan on our Past Conferences archive page
2025 AES
The 2025 AES annual conference is in Atlanta
December 5-8
STXBP1 Foundation Booth # TBA
The American Epilepsy Society (AES) Annual Meeting brings together healthcare providers, scientists, advocates, industry, and other professionals dedicated to better outcomes for people with epilepsy. The conference typically attracts more than 5,000 attendees who come together to learn about cutting-edge science in over a hundred sessions, network with colleagues from all over the world, and see the latest in epilepsy treatments and diagnostic tools from more than 120 exhibitors.
Find future Meetings of the American Epilepsy Society (AES) here
Seizure Training Webinar
Seizure Training Webinar
Join us April 12th at 2pm ET/11:00am PT for an educational seizure training webinar
We are honored to partner with the Epilepsy Foundation Eastern PA - EFEPA to provide education & information to equip parents and caregivers who care for a loved one with epilepsy.
This training will present an overview of seizure types, the administration of proper seizure first aid, the latest medical treatments and devices, unique challenges faced by those diagnosed with epilepsy, and information about seizure action plans.
Register for the seizure training webinar HERE
Rare Disease Day
The STXBP1 Foundation will participate in multiple ways for this year’s Rare Disease Day
In person representation at this year's FDA-NIH Rare Disease Day 2025
Custom T-shirts made available for our community
And a special fundraising challenge for STXBP1-related disorders with a matching offer
AES Annual Conference
The 2024 conference is in Los Angeles
Los Angeles Convention Center
December 7-9
STXBP1 Foundation Booth N1949 in the Epilepsy Resource Area
The American Epilepsy Society (AES) Annual Meeting brings together healthcare providers, scientists, advocates, industry, and other professionals dedicated to better outcomes for people with epilepsy. The conference typically attracts more than 5,000 attendees who come together to learn about cutting-edge science in over a hundred sessions, network with colleagues from all over the world, and see the latest in epilepsy treatments and diagnostic tools from more than 120 exhibitors.
Find future Meetings of the American Epilepsy Society (AES) here
Giving Tuesday
We need your help to meet our 2024 Fall Fundraising goal of $100K that we recently kicked-off with the 8th annual Move to Cure launch back in September.
Giving Tuesday is the Tuesday after Thanksgiving in the US and is historically one of the biggest days of the year for generosity.
As of November 1, our amazing STXer teams have raised $83K against our goal of $100K.
Help us reach our goal!
See all the ways you can give.
Week in Rare
Global Genes is on the move — Week in RARE is moving to Kansas City, Missouri in 2024.
Week in RARE combines the RARE Health Equity Forum and RARE Advocacy Summit, in addition to the RARE Champions of Hope awards ceremony and annual membership meetings for Global Advocacy Alliance and RARE Corporate Alliance. This is a unique opportunity to gather and engage rare disease advocates and leaders in the same space for conversation.
Mechanisms of Epilepsy and Neuronal Synchronization
We’ll be watching this important neuroscience conference for their latest research. Find out more about this event from the Gordon Research Conference (GRC) here.
Million Dollar Bike Ride
The Million Dollar Bike Ride brings over 750 fundraising-cyclists and volunteers to the University of Pennsylvania’s campus for a ride in University City, Philadelphia.
STXBP1-related disorders is represented by Lulu’s Crew in honor of Ben and Erin Prosser’s daughter, Lucy.
Here’s how you can join in on the ride.
Read more here.
NORD Living Rare Living Stronger
Living Rare, Living Stronger®
NORD Patient and Family Forum
National Organization for Rare Disorders (NORD)
WHERE: Hilton Los Angeles, Universal City in Los Angeles, California
WHEN: June 7-8, 2024
WHY:
Engage and meet other rare disease patients and families
Learn from experts and peers on rare disease topics
Access resources and information
Surround yourself with a supportive and knowledgeable community
More details here
Rare Disease Day
The STXBP1 Foundation will be represented in person at this year's NIH Rare Disease Day on February 29th, 2024. This is a program set at the main campus of NIH dedicated to bringing awareness to rare diseases along with challenges and advancement within science and treatment. The event is open to the public and can be attended either in person or virtually.
Go here to learn more about the NIH Rare Disease Day program and to register.
Go here to learn more about Rare Disease Day.
White House Rare Disease Forum
Our own Charlene Son Rigby is a panelist at this important event
American Epilepsy Society Annual Conference
The American Epilepsy Society (AES) Annual Meeting brings together healthcare providers, scientists, advocates, industry, and other professionals dedicated to better outcomes for people with epilepsy.
Find future Meetings of the American Epilepsy Society (AES) here
The STXBP1 Foundation’s booth graphics
FDA Externally-Led Patient-Focused Drug Development Meeting
Join in virtually to help inform the FDA on STXBP1-related disorders
Park City Epilepsy Meeting
Research from UCSF using STXBP1 in zebrafish will be presented at this neuroscience conference.
Global Genes Week in Rare
The STXBP1 Foundation was represented at this important industry event.
See more here.
STXBP1 Disorders Awareness Month
SEPTEMBER IS STXBP1 AWARENESS MONTH
We continue to recognize September as STXBP1 Awareness Month and we have a lot of exciting things planned.
7th Annual “Move to Cure” Run
STXBP1 Summit + video recordings
Regular Social Media Updates
Community Spotlights
Science Saturdays
And lots more …
See more here.
STARR Study: Information Webinar for Families
Learn more and have an opportunity to ask questions! Our speakers are James Goss, PhD, Foundation Scientific Director, and Jackie Steinberg, MPH, BSN, from our board who is leading our natural history study support team.
Attend using this Zoom link
The Million Dollar Bike Ride for Orphan Disease Research
We are gearing up for year 10!
Mark those calendars & we will see you real soon!
Survey Deadline Xcelerate Rare Challenge
Be Counted. Be Heard. Complete Your STXBP1 Surveys.
Rare Disease Day
It’s a day to raise awareness of the over 7,000 rare diseases that impact over 300 million people globally!
The National Organization for Rare Disorders (NORD) is proud to be the official US partner for Rare Disease Day. We work with our sister organization EURORDIS (Rare Diseases – Europe) and others all around the world to drive an international campaign that shines a light on rare diseases and advocates for health equity for all those living with a rare disease. Visit the international Rare Disease Day site for additional information and resources at rarediseaseday.org.
AES 2022 Conference
The American Epilepsy Society’s (AES) annual conference is held in Nashville, TN this year from Dec 2-6. Come visit us in booth #233. The Exhibit Hall opens Saturday, 12/3 at noon and closes Monday, 12/5 at 2pm. STXBP1 disorders is also represented in the poster sessions.
For more info and registration go here.
Giving Tuesday Fundraiser
Giving Tuesday, often described as a global day of giving or a global generosity movement, is held each year on the Tuesday following Thanksgiving.
STXBP1 Foundation donations can be made directly here.
National Epilepsy Awareness Month
Learn more about National Epilepsy Awareness Month all throughout November here.
NORD Summit
Be sure to see CHoP’s Katie Rose presenting her poster on the STXBP1 disease concept model.
This year, NORD is thrilled to welcome all community stakeholders back together in-person to Washington, DC for the 2022 Rare Diseases and Orphan Products Breakthrough Summit. Join your fellow rare disease leaders from patient advocacy groups, government, industry, and academia for exclusive access to fresh insights, compelling connections, and expert resources. Don’t miss out on #NORDSummit
Learn more and register here.
FLOURISH: Art for STXBP1 at Christie’s, New York
On September 29th, 2022, accompanied by the support of artists and friends, The Finn Beaubien Family, will host FLOURISH: Art for STXBP1 at Christie’s, New York, an auction of contemporary art benefitting the STXBP1 Foundation.
All works included have been generously donated to this cause by the artists who made them. We are so grateful to them for their generous support. A cure for STXBP1 Disorders is in sight!
Read more about Florence and the event on the Flourish blog.
2022 September Awareness Month
We continue to recognize September as STXBP1 Awareness Month and we have a lot of exciting things planned. See more here.