Text says 'Ask the experts: a q&a for Lafora families' over a white and gray hexagonal background.

Ask the Experts: A Q&A Session for Lafora Families

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Families, do you have questions about therapies and treatment for Lafora Disease? You have a chance to ask the experts!

You’re invited…

📌 EVENT: Ask the Experts: A Q&A Session for Lafora Families
📌 DATE: Monday, August 28, 2023 from 3-4:30 pm EST
📌 LOCATION: Zoom. Please register for the meeting link.

Keep reading for more details about the Q&A!!

The Chelsea's Hope Lafora Children Research Fund logo is on the left. Text says 'ask the experts: a Q&A for Lafora Families' on the right.

Please join us on Monday, August 28th, 3:00 – 4:30 pm EST on Zoom. Our Science Director, Dr. Kit Donohue, will overview the current therapies in development for Lafora Disease. Afterward, several of our researchers and clinicians will be available to answer any questions you have about current treatments and medications.
We want to highlight Dr. Viet-Huong Nguyen, a pharmacist with a special interest in Lafora disease, who will be in attendance. Dr. Nguyen is an associate professor at Chapman University whose research interests include epilepsy. She answered questions from families in attendance at the 2022 Lafora Disease Science Symposium and presented at our June Research Roundtable. We are grateful for her to share her wealth of knowledge again with the community!

So, please come with questions! We would love to have you join us. Please register to receive the Zoom link.
REGISTER NOW
This is a graphic with a headshot of Niki Markou smiling in the center. The background is a purple gradient.

Director of Family Support Announcement

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This is a photo of Niki Markou, new Director of Family Support, smiling.Chelsea’s Hope Welcomes First Director of Family Support

We are thrilled to announce our first Director of Family Support is Niki Markou.

She will be responsible for helping to successfully plan, implement, and continually improve Chelsea’s Hope’s support, registry coordination, and patient community support programs. We created this new role to better serve our mission of improving the lives of those affected by Lafora Disease.

Meet the Team

You might know Niki from the Fighting the Rare documentary or her advocacy work. She is a powerful force in the Lafora Disease community! She has served as Marketing and Communications Director on the Board since she joined Chelsea’s Hope in 2020. Her daughter Angelina is the only patient diagnosed with Lafora Disease in Australia, and Niki frequently shares their story to raise awareness with news media, our partner organizations, and via Lafora Initiative.

She is a passionate advocate for her daughter, other Lafora disease patients, and the rare disease community. We hope you will join us in congratulating Niki on her new position! We are grateful for her commitment to improving the lives of those affected by Lafora and advancing the mission of Chelsea’s Hope.

Rare Genomes Project logo on top of a purple to white gradient

Rare Genomes Project

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This is the Rare Genomes Project logo. To the left is a small orange r that flows into a blue g. Lowercase text reading rare is in orange to the right while blue text reads genomes project below it.As part of our collaboration with CZI through the Rare as One Network, suspected Lafora disease patients and their families in the U.S. have access to genetic testing through the Rare Genomes Project.

Rare Genomes Project Offers Free Genetic Testing for Rare Disease Families in the U.S.

We know you have likely already experienced a confirmed Lafora disease diagnosis for one of your loved ones or patients. However, please feel free to share this resource with those who might be in need of genetic testing. The diagnostic odyssey for rare disease patients is too long and we are grateful this program will help reduce it.

“The Rare Genomes Project…at the Broad Institute of MIT and Harvard is a patient-driven research study led by genomics experts and clinicians who believe that the latest advances in genomic sequencing are changing medicine and should be accessible to families with rare and undiagnosed conditions.” 

We encourage you to view their brochure and flyer! You can find out more information about eligibility and apply for testing on their website.

Website Request brochure View flyer

Lafora In The News

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Throughout the last month or so, Chelsea’s Hope and Lafora disease have been in the news quite a few times. Keep reading to learn about and find links to each one!

Articles

Rare Classroom: Lafora Disease

Patient Worthy
James Moore
July 28, 2023

In Patient Worthy’s new series about rare disease education, James Moore details Lafora disease in easy-to-understand bullet points. Without a doubt, it is a wonderful resource for learning the basic information and impact of Lafora.

Childhood Dementia: Fighting The Rare Documentary – Lafora Disease

Dementia Alliance International
Niki Markou
July 20, 2023

Dementia Alliance International helps to spread the word of Fighting The Rare, including a brief summary of Niki Markou (A.K.A. our Director of Family Support) and Angelina’s experiences with Lafora.

Lafora Disease: The Stories of Robin and Angelina

Eurordis
July 2023

Featured in this article are two Lafora disease patients: Angelina and Robin. In essence, their mothers, Niki Markou and Veronique Gadomski (from France Lafora), tell their stories. While there are similarities between their experiences, it is evident that each Lafora patient and their family has their own unique stories – each and everyone worth learning about!

Fighting The Rare: Documentary Spotlights Lafora Disease Research

Patient Worthy
James Moore
August 4, 2023

Our partner, Patient Worthy, gives readers a list of the international scientists that took part in Fighting The Rare, accompanied by a brief explanation of Lafora Disease.

Videos

Fighting The Rare: Lafora Disease Documentary

CheckRare
June 22, 2023

With their spotlight on Fighting The Rare, CheckRare (a rare disease organization) gives an explanation in scientific terms of what causes Lafora disease. Additionally, this article includes a video of Niki Markou and Jordi Duran (Ph.D., Associate Professor at Institut Químic de Sarrià in Barcelona) talking through their roles and aspirations during the creation of Fighting The Rare.

Lafora Disease Explained

CheckRare
June 23, 2023

In CheckRare’s second Lafora disease-focused article in June, they delve into the common symptoms of Lafora, and hypothesize about a possible treatment. Also highlighted in this article is a Youtube video of Niki Markou and Jordi Duran discussing Lafora disease symptoms and pathophysiology.

Podcast

Lafora Disease Experts on Clinical Trials, Challenges Funding Rare Disease Research | VibeCast Ep 19

Vibe Bio
Hosted by Ray Dogum with guest Niki Markou
July 13, 2023

If you’re looking for something to listen to regarding news on Lafora disease, you can check out the latest VibeCast featuring Niki and Dr. Duran! Host Ray Dogum from Vibe Bio asks about Lafora disease, living with symptoms, research, hope for treatments, and the recent Fighting the Rare documentary. It is out now on Youtube and Spotify.