Home | The MYT1L Project

Heartwarming moment between a young woman with MYT1L and her furry companion

Gene-based therapies could be life-changing for children and families impacted by MYT1L Syndrome.

The MYT1L gene is crucial for the proper formation and function of the nervous system.

We are dedicated to promoting awareness of the daily challenges faced by children and adults with MYT1L gene alterations.

MYT1L Syndrome can cause:

Severe cognitive impairment
Extreme emotional dysregulation
Autistic behaviors
Epilepsy
Insatiable appetite leading to obesity
A need for lifelong support

Young boy diagnosed with MYT1L syndrome looking joyful and brave, caring for his puppy

Smiling child raising awareness for MYT1L syndrome

Child with MYT1L syndrome, spreading MYT1L awareness, one smile at a time

Young girl with MYT1L syndrome wearing orthotic devices to help her walk, as many kids with MYT1L syndrome do

A beautiful bond: Two boys with MYT1L syndrome sharing a hug and friendship

Toddler with MY1L syndrome playing with toys

Smiling girl with MYT1L syndrome in an adorable portrait

Cute boy with MYT1L syndrome inspiring hope and research

Determined toddler with MYT1L syndrome making strides with walking supports

Happy young girl with MYT1L syndrome having a joyful moment with Mickey Mouse and Disney Characters

We are advocating for a cure — while funding research that could be life-changing for other rare diseases.

Toddler with MYT1L syndrome using assistive equipment to gain mobility

Smiling girl affected by the MYT1L gene, raising awareness for MYT1L syndrome

Cute young toddler with MYT1L syndrome, determined to take some steps

Beautiful child with MYT1L syndrome in her fun cat boots

Sweet girl with MYT1L syndrome plays with toys. The MYT1L Project includes a global community of children affected by MYT1L.

Active child with MYT1L syndrome rides his adaptive bike with joy

Brave baby with MYT1L syndrome in the hospital receiving care

Little girl with MYT1L syndrome wearing an eye patch for vision therapy to treat strabismus and other vision abnormalities

Two friends with MYT1L syndrome who met in St. Louis at the family and researchers gathering

Courageous baby with MYT1L syndrome going through testing in the hospital

Baby with MYT1L syndrome in the hospital, wrapped in warmth and love

Little fighter: A baby with MYT1L syndrome in the hospital, surrounded by care

Child with MYT1L syndrome posing on a playground

We welcome your donation.

Every donation supports life-changing research, resources and advocacy for those affected by MYT1L.

Donate

The MYT1L Project is a leader in rare disease ASO Research.

Antisense oligonucleotide (ASO) therapy is a cutting-edge approach that targets the root genetic cause of diseases by modifying how genes are expressed. ASOs work by blocking or correcting faulty genetic instructions, offering a precise and innovative way to treat genetic disorders. The specific ASO approach being studied for MYT1L Syndrome is novel, and success of our research could have far-reaching consequences for other rare genetic disorders. Please see Areas of Current Research for details.

We are advancing ASO research for MYT1L while paving the way for future therapies for other rare diseases.

MYT1L Syndrome is a well-defined genetic condition that results from loss-of-function of the MYT1L gene.
All patients with MYT1L Syndrome have one "good" copy of the MYT1L gene, making MYT1L Syndrome an ideal candidate for ASO therapy that targets up-regulation of the healthy gene.
The MYT1L Project Foundation is organized and ready to support clinical trials.
There is an unmet medical need, and early funding could lead to a breakthrough treatment for MYT1L patients.
We are uniting researchers, families, and industry leaders to push ASO research from the lab to real treatments.
ASO studies for MYT1L are already underway. We need your support to ensure this vital research continues.

Groundbreaking ASO research is underway at Washington University in this lab, bringing hope to families.

🧬✨ Groundbreaking ASO research is underway at Washington University, bringing hope to families. Even our smallest supporters are excited for scientific breakthroughs — posing with beakers and test tubes in the actual lab!

Pictured here is the lab at Washington University where researchers are studying MYT1L syndrome and exploring potential treatments for the future. 🔬🧪

MYT1L Scientist/Family Collaborative Meeting at Washington University in St. Louis, October 2024

You are not alone.

Has your child recently been diagnosed with MYT1L Neurodevelopmental Syndrome? Or perhaps your family has been living with this diagnosis for some time now. We understand how overwhelming it can feel — especially with so little information available.

You’ve come to the right place. At The MYT1L Project, we truly understand what you’re going through, because we’ve been there, too. As parents of children with MYT1L, we’ve navigated the challenges of health care systems, therapies, and schools.

Here, you’ll find a community ready to support you. By sharing our experiences and working together, we can empower one another and advance research to improve the lives of our children and families.