Videos and Resources

Frizzle Stories - by patients

Fighting for Two Lives: Frizzle and Breast Cancer

  • Viviana found herself fighting for two lives. For her son Arturo who has Frizzle (FRRS1L) a devastating genetic disease, and her own life as she was diagnosed with Breast Cancer. Watch her story of strength and determination. She is thankful there is lifesaving treatment for breast cancer, which saved her life; now she fights even harder to get lifesaving treatment funded for Frizzle to save her son. Finding Hope for FRRS1L has discovered lifesaving treatment for Frizzle, the organization has a plan to develop it, and a goal to dose patients starting in Sep. 2026, but the only roadblock standing in their way is funding.

    Help fund lifesaving treatment for Frizzle by donating today!

Everly’s Story of Frizzle Disease

  • Learn more about the devastating genetic disease Frizzle (FRRS1L) through the words of Everly’s mother. Learn of the shocking and difficult experience of regression that every Frizzle child and family experience. See how they fight each day to keep their Frizzle child alive and hope on to hope of treatment being developed by next year!

Frizzle Program Videos

What is Frizzle (FRRS1L) Genetic Disease?

  • What is Frizzle (FRRS1L) Genetic Disease? Frizzle (FRRS1L) genetic disease, also known as DEE37, is an ultra-rare, progressive neurological disease caused by mutations in the FRRS1L gene. To have the disease patients have two non-functioning copies of the gene FRRS1L. Patients are diagnosed with the disease through genetic testing. Children with Frizzle experience severe seizures, loss of motor function, movement disorders, and rapid regression. In this short video, we explain the basics of Frizzle disease, the science in the body, how it affects the brain, and why developing gene replacement therapy treatment is so urgently needed and hopeful! At Finding Hope for Frizzle (FRRS1L), we are a parent-led nonprofit dedicated to developing lifesaving treatment for children affected by this devastating disease.

What is Frizzle Gene Replacement Therapy?

  • What is Frizzle gene therapy—and why are we working so hard to make it possible? Frizzle, also known as FRRS1L, is a devastating genetic disease that causes uncontrolled seizures, rapid regression, and global loss of function. The FRRS1L gene helps the brain assemble AMPA receptors, which allow brain cells to communicate. Frizzle patients have two non-functioning copies of the FRRS1L gene to have the disease. Our gene replacement therapy is designed to deliver a working copy of the FRRS1L gene to brain cells. It uses the TfR1 CapX capsid technology, developed by Dr. Ben Deverman’s lab at the Broad Institute and licensed through Apertura Gene Therapy, to help treatment cross the blood-brain barrier and reach the brain through an IV infusion. Preclinical research in FRRS1L diseased mouse models showed that when treated with FRRS1L Gene Replacement Therapy that they AMPA receptors were rebuilt in the mice and they had restored motor function—giving us hope for what treatment could mean for our struggling patients. Finding Hope for Frizzle is a parent-led nonprofit working to turn that scientific hope into treatment for our children. 💚 Donate and help move treatment forward!

Frizzle Webinar:

Frizzle Disease and Science of Treatment

  • FRRS1L/TfR1 CapX Webinar Finding Hope for Frizzle has prepared a recorded webinar to share more information about the organization, Frizzle disease, supporting partners, and why we have partnered with Apertura Gene therapy to license their TfR1 CapX technology for our Frizzle gene therapy. Access the webinar to hear more from:

    Chrissy Green, President of Finding Hope for Frizzle

    Dr. Ben Deverman, Senior Director of Vector Engineering at the Broad Institute of MIT and Harvard, as well as the scientific founder of Apertura Gene Therapy and developer of the TfR1 CapX technology

    Andy Holt, Chief Commercial Officer of Viralgen Vector Core

Frizzle Announcement:

Frizzle and the TfR1 CapX

  • Finding Hope for Frizzle (FRRS1L), a parent-led organization, has partnered with Apertura Gene therapy to license their TfR1 CapX technology for its Frizzle gene replacement therapy. As a parent-led organization, that has control of its treatment program, we know our kids and patients can only get dosed once with a gene therapy, and we need it to be the best technology possible that can deliver our Frizzle gene to the whole brain. We also need it to be a route of administration that is less invasive and more easily accessible for our global patient population. TfR1 CapX does exactly that: it is dosed intravenously and can deliver genes throughout the whole brain. It is our goal to be first in human with Frizzle/TfR1 CapX by this September 2026. We have our plan and timeline set and partners are in place; however we still need funding to get this treatment to the finish line and in patients. Although Frizzle is a rare neurodevelopmental disease, a Developmental and Epileptic Encephalopathy (DEE), advancing this treatment into the clinical setting has implications far beyond a single disease. Progress in this space will not only support smaller rare disease communities, but also contribute valuable insights that may accelerate breakthroughs in more prevalent neurodegenerative conditions such as Parkinson’s and Alzheimer’s disease. We are seeking leaders and champions across these communities who are willing to step forward in support, recognizing that this effort has the potential to advance treatment development across the entire neurological disease and gene therapy development landscape. Join the organization on this journey of hope as they change lives and change the world!

Educational Videos

The following are linked educational videos made by other organizations or entities on gene therapy.

Watch to learn more about the basics of gene therapy.

Watch this short video that explains the immune responses to AAV-based gene therapies.

Watch this patient education lunch and learn where medical professionals explain gene therapy.