Donate | mysite

More prayers are appreciated, and, if interested, you can donate here: www.hopeforuld.org/donate #raredisease #rareepilepsy #unverrichtlundborgdisease #genetherapy #givingtuesday

Young boy holding a bat in a baseball uniform

Epilepsy Awareness Month Facts: Children with ULD (EPM1) can play sports, excel at school, run, jump and swim, UNTIL ONE DAY, usually between the ages of 6 and 15, the seizures begin...
www.hopeforuld.org/our-stories #unverrichtlundborgdisease #RareEpilepsy #GeneTherapy #epm1 #PME #epilepsyawareness

In this week's "In the Thick of It," Allison Watson, CEO of Ring20 Research and Support UK CIO, shares crucial insights into Ring Chromosome 20 Syndrome (r(20)).

https://bit.ly/48KLWoc

#Ring20 #RareEpilepsy #PatientAdvocacy #RareDiseaseResearch #RingChromosome20

The National Plan for Epilepsy Committee (NPEC) needs volunteers from across the epilepsy community—patients, caregivers, clinicians, researchers, and advocates—to join work groups shaping the future of epilepsy. Apply by April 24!

 https://bit.ly/4lMxsIC
#Epilepsy #RareEpilepsy #Research #Advocacy

🎥 Dr. Michael Hammer shares a quick update on the current state of SCN8A research & community progress. A vital perspective from the scientist—and SCN8A parent—who discovered the gene’s role in epilepsy.
#SCN8A #RareEpilepsy #StateOfSCN8A

💜 New 🎙️ Episode! I speak with Dr. Simona Giorgi from Dravet Syndrome Foundation Spain about research, advocacy & the DANCE questionnaire - a tool to detect neuropsych challenges in #Dravet! 🧠💡 Listen/watch 👇🏻!
🎙️ Podcast shorturl.at/xqUlC
📹 YouTube shorturl.at/r5dVN
#rareepilepsy #epilepsy

Rare Disease Day--there are more rares than you can imagine!

Hope for ULD is celebrating Rare Disease Day by raising awareness for our fight against the ultra rare EPM1, Unverricht-Lundborg Disease. We are working to end the suffering of ULD! #rarediseaseday #epm1 #unverrichtlundborgdisease #genetherapy #RareEpilepsy

My Story: How Funding Cuts Will Change This Researcher’s Life with Epilepsy | Epilepsy Foundation New England Draconian cuts in NIH funding will have a lasting impact on clinical care. The National Institutes of Health (NIH), has announced dramatic cuts to all research funding that will dismantle biomedical r...

Important words from an organization that is funding ULD/EPM1 research! # unverrichtlundborgdisease #epm1 #RareEpilepsy #genetherapy epilepsynewengland.org/news/my-stor...

Unverricht-Lundborg Disease | Hope for ULD | 501(c)(3) nonprofit Hope for ULD is a nonprofit that raises funds for gene therapy research to treat Unverricht-Lundborg Disease (ULD), a heritable, degenerative myoclonus epilepsy.

Want the latest research news? Sign up to get our occasional email updates. You can subscribe at the bottom of any page on our website! Check it out! www.hopeforuld.org #epm1 #uld #unverrichtlundborgdisease #genetherapy #RareEpilepsy #hopeforuld

Biogen and Stoke Therapeutics Enter into Collaboration to Develop and Commercialize Zorevunersen for the Treatment of Dravet Syndrome, a Rare Genetic Epilepsy Associated with Refractory Seizures and N... Stoke retains exclusive rights for zorevunersen in the United States , Canada , and Mexico ; Biogen receives exclusive rest of world commercialization rights Collaboration broadens Biogen’s rare disea...

Interesting news for the dravet community, and potentially the #rareepilepsy space in general…
👏🏼
investor.stoketherapeutics.com/news-release...

#dravet #epilepsy #biogen #stoke

Research | mysite

Please forward this to all ULD/EPM1 patients you know! Help the researchers HELP YOU!!! If you have not yet joined the ULD/EPM1 Natural History Study, contact Joshua Rong at Joshua.Rong@childrens.harvard.edu www.hopeforuld.org/research #epm1 #unverrichtlundborgdisease #genetherapy #RareEpilepsy

Back in Rome for the 5th “In Search of Lost Time” workshop which this year is focusing on focal cortical dysplasia’s and auto-immune disease with epilepsy, view from the hotel entrance #rareepilepsy #cdkl5 #epag

About to kick off our annual #rareepilepsy workshop at #AES! #rareepilepsynetwork

In today’s podcast🎧 we hear of the complexities of rare genetic 🧬 epilepsies & how epilepsy is often just 1 part of the disease! With with paediatric neurologist & epilepsy specialist Eleni Panagiotakaki 🤩! Check out the links 🔗 & chapters, here👇!

#rareepilepsy #ahc #grin #geneticepilepsy #epilepsy

📹 YouTube youtu.be/Eafo2nu3Hfs
🎧 Podcast mcdn.podbean.com/mf/web/3yxdy...
📖 Transcript & more on Eleni www.torierobinson.com/epilepsy-spa...

#rareepilepsy #ahc #grin #geneticepilepsy #epilepsy

We are pausing on this Giving Tuesday to celebrate the work of our researchers. Their tireless efforts keep bringing us closer to the goal of ending the suffering caused by ULD/EPM1. #epm1 #unverrichtlundborgdisease #RareEpilepsy #genetherapy #GivingTuesday

New podcast 🎧📹 episode with Clio Rubinos 👩‍⚕️🇺🇸 about Acute Symptomatic Seizures! 👇
Covering causes, potential epilepsy, and more!

📹 YouTube shorturl.at/dctT3
🎧 Podcast shorturl.at/Ao0e1
📖 Transcript, & more about Clio shorturl.at/93Pvd

#epilepsy #AcuteSymptomaticSeizures #NORSE #rareepilepsy #ICU

CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy - Gene Therapy Gene Therapy - CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy

We are #thankful for 1. Results of research: www.nature.com/articles/s41....
2. The ULD/EPM1 Natural History Study:  www.hopeforuld.org/research. Embracing thankfulness and hope! 💜 #epm1 #unverrichtlundborgdisease #genetherapy #RareEpilepsy

The ULD/ EPM1 Natural History Study is underway! If you are a ULD (EPM1) patient family, or if you know of one, please have them contact Joshua.Rong@childrens.harvard.edu
Join us in the race to end the suffering caused by ULD/EPM1! #epm1 #genetherapy #rareepilepsy #unverrichtlundborgdisease #uld

3) Attended the #NCA (National Communication Conference) this week for the first time. Lots of great #healthcommunication and #qualitative scholarship. Plan to apply what I learned to my teaching and research in #rareepilepsy (always!)

There are nearly 1,000 genes known to cause epilepsy. 800+ of them are associated with developmental and epileptic encephalopathy. #rareepilepsy #epilepsy #genetics

Hi all, we are happy to be here. Teddy says "Hi!" He helps one family as they deal with ULD (Unverricht-Lundborg Disease), also known as EPM1. #EPM1 #ULD #UnverrichtLundborgDisease #RareEpilepsy #RareEpilepsyNetwork #genetherapy

A roadmap to cure CHD2-related disorders - Stephanie Prince, Emily Bonkowski, Christopher McGraw, Christina SanInocencio, Heather C Mefford, Gemma Carvill, Brian Broadbent, 2024 Coalition to Cure CHD2 (CCC) is a patient advocacy group dedicated to improving the lives of those affected by CHD2-related disorders (CHD2-RD) by increasing ed...

And last month, "A roadmap to Cure CHD2-related disorders" journals.sagepub.com/doi/full/10.... was published in Therapeutic Advances in Rare Disease #rareepilepsy #autism #patientadvocacy @curechd2.bsky.social

Sage Journals: Discover world-class research Subscription and open access journals from Sage, the world's leading independent academic publisher.

Hot off the press. New article, "Charting the Course to a Cure for #SCN2A related disorders" was just published today in Therapeutic Advances in Rare Disease. journals.sagepub.com/doi/10.1177/.... #rareepilepsy #autism #patientadvocacy

Lovely to meet you too! I get the Rare Epilepsy Network newsletter, which is a fantastic resource. I work on EEF1A2- lovely Facebook group for families but no formal PAG unfortunately. Very interesting times for #rareepilepsy just now!