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
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.
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.
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.
AES Annual Conference
The 2024 conference is in Los Angeles
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
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
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.
2022 STXBP1 Summit +
Our annual Summit + conference is back as a live event this summer in Philadelphia. Join us at the Bellevue Hotel downtown on Friday, August 19 and Saturday, August 20 for research updates, STXBP1 Foundation plans, community networking, and more. Registration is open now! Watch our website for details on the agenda for both days. If you can’t make it to the conference, all sessions will be livestreamed in real time on our YouTube channel. They will also be recorded and available on our website one week after the event ends. See more here.
Webinar: RARE-X STXBP1 Disorders Data Collection Program
Attend a new Webinar on the upcoming STXBP1 Disorders Data Collection Program on the RARE-X platform
Learn how sharing patient information will collectively make a difference in finding a cure for STXBP1 disorders and other rare diseases.
Webinar: Neurogenetics Multidisciplinary Clinic at the Children’s Hospital Colorado
Learn about the Neurogenetics Multidisciplinary Clinic at Children’s Hospital Colorado as we get ready to launch this NEW STXBP1 center. See what’s involved in participating and why a multidisciplinary approach to treating rare diseases is important for both patient care and research efforts.
This is a ZOOM meeting open to all.
3rd Annual Synapse Roundtable
Attend the 3rd Annual Synapse Roundtable, co-hosted by the Syngap Research Fund, STXBP1 Foundation & CureSHANK.
Neurologists & researchers can quickly and efficiently learn about about neurodevelopmental disorders in synaptic genes: STXBP1, SYNGAP1, and SHANK3, where rapid progress is being made in clinical trial readiness due to impressive science and engaged patient communities.
Register here: https://bit.ly/stxbp1-3oX
American Epilepsy Society Annual Meeting
See the STXBP1 Foundation team in booth #T-02 at the AES 2021 annual conference taking place December 4‑6, 2021 at McCormick Place West in Chicago, IL. Conference dates are December 3-7.
STXBP1 Research Roundtable
Join the STXBP1 Research Roundtable, where we will convene to review research progress, discuss key gaps in current knowledge, and ways to address these gaps to accelerate therapies for STXBP1.
This two-day virtual conference will bring together STXBP1 investigators and medical professionals with a strong interest in STXBP1 and related disorders.
Sessions:
-Phenotype Characterization, Disease Progression, Non-Seizure Phenotypes
-Endpoint & Biomarker Development, Lessons Learned from Clinical Trials
-Mechanism of Action
-Models of STXBP1 for Therapeutic Development
Organizing Committee:
-Benjamin Prosser, PhD - University of Pennsylvania
-Ingo Helbig, MD - CHOP
-Jacqueline Burre, PhD - Weill-Cornell
-Matthijs Verhage, PhD - VU Amsterdam
-Michael Boland, PhD - Columbia University
-Mingshan Xue, PhD - Baylor College of Medicine
-Terry Jo Bichell, PhD - COMBINEDBrain
Move to Cure
This year will be our 5th annual Move to Cure event. We’ll be running virtually everywhere throughout the last weekend of September. See how you can participate and register now.
STXBP1 Summit + Annual Family Meeting
Save the date for our 2021 STXBP1 Summit + Annual Family Meeting! This year's meeting will be held virtually on the weekend of September 17 - 19 and will include our popular webinar sessions PLUS family involvement in various sessions.
Get ready for research and clinical updates, informative and interactive sessions, and time to socialize and catch up with your STXBP1 Family … all online.
Registration is now open: https://stxbp1summit.org/registration
September is STXBP1 Disorders Awareness Month
Get ready for all-things STXBP1 Disorders. This is our third year of dedicating the entire month of September for STXBP1 Disorders with tons of activities. We’ll work together to create even more awareness for this rare genetic disorder, share the very latest updates on research, and bring the community together virtually again. See more.
Million Dollar Bike Ride
Lulu’s Crew Team STXBP1 is riding again this year in the Million Dollar Bike Ride to raise money for research funding for STXBP1 through the Orphan Disease Center at University of Pennsylvania!
The MDBR will be a virtual event on June 12th -- so you can join from anywhere! On your road bike, mountain bike, Peloton, or even your tricycle! We are looking for riders, and supporters. Consider joining the team or cheer us on virtually!
In 2020, with $143K total money raised, STXBP1 had the largest grant funding of all the MDBR disease teams. For 2021, let’s try to beat that to fuel more research in STXBP1!
To register please complete the online registration: https://www.milliondollarbikeride.org/, then reach out to info@stxbp1disorders.org to set up your fundraising page, or for help to update your fundraising page from last year!