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, Post Office Box 348626, Sacramento, CA 95834
ONCE UPON A GENE PODCAST- EPISODE 138 – Chelsea’s Hope Lafora Children Research Fund with Niki Markou and Jenifer Merriam
/by Niki MarkouJenifer Merriam and Niki Markou are courageous moms, serving on our Board of Directors. They share what it’s like to cope with a child’s suffering with a rare disease with no cure. These moms are working together to fund research for medical therapies and were recently awarded a Chan Zuckerberg Initiative Rare As One grant, which will help in their race against time for their children.
EPISODE HIGHLIGHTS
Niki, can you introduce yourself?
I live in Sydney, Australia and have an 18 year old daughter who has Lafora disease. She was healthy until she was 14, when she fell down and had a seizure.
Jenifer, can you introduce yourself?
My daughter was a healthy teen and around age 15, she started experiencing myoclonic jerking in her hands and arms. Eventually she began having frequent seizures, cognitive decline and was diagnosed with Lafora disease.
What are your current barriers for gaining access to treatments for Lafora Disease?
In the labs, they’ve found therapies, but we don’t have any human clinical trials, which is what we’re raising awareness around. With therapies available, we want to get our children to clinical trials to see if the therapies work. We’ve had planned clinical trials before that haven’t successfully happened because there aren’t enough Lafora patients for a return on investment.
What are you doing to move forward in finding potential treatments for Lafora?
We talk to a lot of organizations for similar diseases, talk to professors and biochemists around the world, meet and brainstorm, seek alternative pathways and drugs that could be used. Every minute we have we are taking this on, trying to find a solution.
You can also search on your podcast app, Once Upon A Gene and look for episode 138
Announcement: Ionis Pharmaceuticals
/by Niki MarkouDear Lafora Disease Community,
We have received a letter from Ionis Pharmaceuticals regarding the proposed clinical trials 2022.
This year has presented us with new challenges yet again.
Continuing to Hope…
We will never stop fighting for a cure. Our team is working tirelessly to uncover new ways to overcome our challenges. We will continue to update all of you as we receive more information.
To read the statement
RESEARCH PAPER: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora
/by Niki MarkouWant to read some research on Lafora disease but a more simplified version? Well Dr Jordi Duran from the Institute for Research in Biomedicine (IRB Barcelona) in Barcelona, Spain has provided us with an easier version of his latest research paper for us to read.
Research Paper: Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora
This paper discusses the accumulation of glycogen aggregates and understanding the role of the protein p62
To read more
We’re part of the @ChanZuckerbergInitiative’s #RareAsOne Network
/by Niki MarkouA group of 50 patient-led organizations that are strengthening rare disease communities, improving diagnosis, accelerating research and driving progress in the fight against rare diseases.
Learn more here.
Patients are a powerful force in driving research for rare disease — we provide critical insights about our diseases and are fueling significant discoveries.
7,000 rare diseases, one community fighting for cures.