Funding announcement: $50,000 investment in ASXL Registry and Biobank

The ARRE Foundation is announcing a $50,000 investment in the ASXL Registry and Biobank, which is hosted at the University of California Los Angeles and is led by principal investigator Dr. Bianca Russell, a clinical geneticist who specializes in ASXL-related disorders.

This investment is in direct response to what we learned from the ASXL community in our family research priority survey last year: Families want to know: more about their child’s disorder and what the future will look like.

These funds will be used to support new long-term data collection efforts to catalog the symptoms and complications that individuals experience over time. In research terms, this is called a natural history study.

Natural history studies collect longitudinal data. This means collecting similar data points over time to establish trends – and this is also an important part of positioning our ASXL community to be ready for clinical trials. Natural history study data is a critical part of a clinical trial as it can show the natural trend of a disease or disorder in the absence of an intervention, like a drug or gene therapy. So when we do have a drug or gene therapy to trial in humans, we can compare the change we see in the people participating in the clinical trial to the natural history data that we collected previously.

The ARRE Foundation’s research investment in the ASXL Registry and Biobank directly serves the immediate informational needs of families and strengthens our toolbox for being ready for clinical trials.