Research

Since Jack’s diagnosis, there have been no additional reports detailing the phenotype or prognosis for SCAR-15 published in literature. Given that the RUBCN gene was only recently upgraded to a causative disease gene, this condition is likely underdiagnosed in the general population.

We expect to learn more about SCAR-15 as more cases come to clinical attention.

Learn more about Gene Mutation and Gene Therapy

Challenges and Funding Needs

Developing gene therapy takes years of partnerships, work, and millions of dollars.

We are grateful to research teams from Queen Square Institute of Neurology at University College London, University of Cologne in Germany, and Osaka University in Japan researching the gene so diligently, which they have been able to do thus far through public grants.

As their work continues, private funding will be essential in order for them and other researchers to pursue a natural history study, which will allow us to gain a stronger understanding of how SCAR-15 presents and progresses in individuals. Natural history studies help to further define the disease and give better guidance for drug development.