The mission of Chelsea’s Hope is to improve the lives of those affected by Lafora disease and help accelerate the development of treatments.
Chelsea’s Hope Lafora Children Research Fund is an IRS 501(c)3 non-profit organization. EIN: 27-1008382
Chelsea’s Hope c/o Dr. Donohue
976 Maywick Dr.
Lexington, KY 40504
Empowering Lafora Disease Research: Launch of Patient Mutation and Canine Databases
/by Christine KellyHear from Emilie Heller about the launch of two databases she worked on:
“Hi everyone! My name is Emilie and I’ve just wrapped up my time at Chelsea’s Hope as the Research Network Development Intern. I’m excited to share about the launch of two Lafora databases.
Patient Mutation Database
Our new Patient Mutation Database is a comprehensive list of all the reported and published mutations leading to Lafora disease. Firstly, this database will assist with identifying disease-causing mutations. Furthermore, the database will improve our ability to predict mild versus classical disease progression to better treat Lafora patients. The mutation database will be freely available to anyone who registers for access. Researchers and clinicians are also invited to report novel mutations to help us develop a more accurate picture of disease-causing mutations in Lafora disease.
Launch of Canine Registry and Database
During my time interning at Chelsea’s Hope, I also compiled a central database with comprehensive data on affected canines. Numerous canine breeds are susceptible to Lafora disease, a rare and fatal progressive epilepsy causing neurodegeneration. By focusing on canine research on Lafora disease, scientists aim to unravel crucial insights into this complex disorder.
Formed by compiling many studies among leading research institutions, the initiative establishes a dedicated database and registry exclusively focused on collecting canine data related to Lafora disease. This database will serve as a repository for invaluable information, encompassing genetic data, phenotypic profiles, and treatment regimens for affected dogs.
Our organization will maintain and regularly update this database of mutations associated with Lafora disease in canines and their associated phenotypes. By cataloging genetic variations observed in affected canines, researchers will be able to identify patterns and correlations that could shed light on the underlying mechanisms of the disease. This comprehensive canine database is poised to facilitate targeted investigations into the genetic basis of Lafora disease, both paving the way towards finding a cure for our canine friends, and accelerating treatment for human patients with Lafora.”
Researchers and veterinarians can request access to the database. Dog owners can add their affected dog to the Lafora Canine Registry.
Disclaimer: Emilie’s post was edited for clarity.
Find the webpages and forms for accessing the databases on the Chelsea’s Hope website. The organization looks forward to empowering Lafora disease research and fostering collaboration. Finally, please email katherine@chelseashope.org with any questions.
The Latest Research in Lafora Disease – Summarized for Easy Reading
/by Maysoon HussainResearch Simplified for Families
Interested in learning about the new research developments in Lafora disease in a concise and easy-to-read form?
Keep reading for summaries of some of the latest published research in Lafora disease. Our goal is to make the research easier to read and understand for families. You’ll find the research simplified in one-page PDFs, but we will also link to the full peer-reviewed publications.
1. Early Treatment With Metformin Improves Neurological Outcomes in Lafora Disease
2. Effect of Alglucosidase alfa (Myozyme) Therapy in Lafora Disease
3. Antisense oligonucleotide (ASO) therapy targeting Gys1 gene
4. Identifying CSF and PET scan biomarkers to evaluate progression of Lafora Disease
Questions? Contact Maysoon Hussain (maysoonhussain1@chelseashope.org).
Reflecting on Progress: Explore Our Impact in the Chelsea’s Hope 2023 Annual Report
/by Christine KellySince our humble beginnings as a blog started by Chelsea Gerber’s family in 2007, Chelsea’s Hope has remained committed to sharing Lafora stories and connecting families. In 2009, we became a 501c(3) organization to raise funds for research, treatment, and, ultimately, a cure for those affected by Lafora Disease. There are now promising treatments in the pipeline, all thanks to the dedication of the Lafora research network. In 2023, we updated our mission statement to reflect the challenges we seek to overcome.
2023 Achievements
Despite its challenges, last year included hopeful advancements. Learn more about our events, programs, and milestones in the 2023 Impact section of the Report.
In 2023, we…
Much of our work was possible thanks to the capacity-building grants from the Chan Zuckerberg Initiative. We also received support from the Danny Did Foundation, Vibe Bio, the Every Life Foundation, and generous donations from the Weiss family. We appreciate all our 2023 donors! Your contributions will support our work in 2024.
2024 Goals
However, 2023, like every year before, also left us mourning the passing of more children. We need to stop this.
Our goals for 2024 are to:
What’s next?
Are you interested in being part of the next chapter of our mission? There are many ways to get involved! One way to stay connected is to sign up for our mailing list, which includes job and board postings and research updates. You can also follow our social media for regular updates. Finally, we always welcome donations and volunteers to support our cause.
We remain committed to reaching a cure for Lafora this year and beyond. Thank you for your partnership!
Chelsea’s Hope supports Purple Day 2024
/by Christine KellyApproximately 50 million people live with epilepsy globally, including Lafora Disease warriors. An extremely rare epilepsy, Lafora is complex and has limited treatment options. Symptoms of the disease, also known as Lafora progressive myoclonus epilepsy, include increasingly recurrent, intractable seizures and myoclonus.
Chelsea’s Hope remains committed to improving the lives of those affected by Lafora Disease. Accordingly, the organization has shared social media advocacy tools to raise awareness about the unique challenges of Lafora, as well as links to other organizations and support that families could benefit from on our Resources page.
If you join in sharing on social media, then here are some caption ideas:
💁♀️ Share about who you wear purple for.
💬 Explain some facts, like how Lafora Disease is often misdiagnosed as Juvenile Myoclonic Epilepsy.
🧠 Describe symptoms of Lafora, like recurrent seizures.
Purple Day is an opportunity for education and empathy for all affected by epilepsy, including Lafora patients and their loved ones. Together, we can work towards a future where epilepsy is better understood and all individuals receive the support and care they deserve. Together, we fight Lafora.