Join Blu Genes and children like Lucas find a treatment for RBM28 Support advancing gene therapy and offering hope.
Meet Lucas
Lucas is a bright, determined little boy from Kleinburg, Ontario, whose smile and determination has inspired an entire community to rally around a single mission: finding a treatment for his ultra-rare genetic condition.
In 2025, Lucas was diagnosed with a disease caused by mutations in the RBM28 gene. With only two known cases worldwide, this is classified as an ultra-rare disorder.
Despite significant physical challenges, Lucas continues to show incredible resilience every day. He attends therapy multiple times per week, works tirelessly toward mobility goals, and inspires everyone around him with his strength and spirit.
About RBM28-Related Disease
RBM28 is a gene that plays a critical role in ribosome biogenesis, a fundamental process required for healthy cell function.
Mutations in RBM28 can result in severe neurological and developmental challenges, including:
- Global developmental delays
- Hypotonia and muscle weakness
- Spasticity and movement disorders
- Motor impairment affecting walking and mobility
- Feeding and communication difficulties
Because the condition is so rare, there is currently:
- No approved treatment
- No established standard of care
- Very limited research worldwide
- No clinical trials available
Families are often left navigating the unknown with little information and few resources.
Why This Research Matters
For many rare diseases, the greatest obstacle is not science – it’s funding.
The technology exists today to investigate potential treatments and gene therapies for ultra-rare disorders. However, because the patient population is so small, these diseases rarely receive the attention and funding needed to move research forward.
Without fundraising efforts, research into RBM28-related disease would likely never occur.
Lucas and his family with the help of Blu Genes Foundation are working to change that.
The Research
Research is launching at leading research institutions including; SickKids and UMass Chan Medical School. The goal is to build the scientific foundation necessary to develop the world’s first treatment for RBM28-related disease. The Research aims include:
- Understanding the biological impact of RBM28 mutations
- Development of disease models
- Identification of therapeutic targets
- Drug screening initiatives
- Development and characterization of animal models
- Gene therapy development and testing
- Generation of preclinical data required for future therapeutic advancement
Funding Goal
The estimated funding required to complete the current therapeutic development pathway is approximately CAD $2 million. This includes:
- Approximately CAD $350,000 supporting the research program at SickKids
- Approximately CAD $1.7 million supporting gene therapy development at UMass Chan Medical School
Every dollar raised moves this research forward.
How You Can Help
Donations directly support research efforts aimed at developing a treatment for RBM28-related disease.
Donate to RBM28
