We are so grateful for the work and progress the TSC Alliance has made over the past 20 years. Anya’s Accelerator will provide an opportunity to advance TAND research and innovation and offer hope for improved treatments, cures and prevention methods for those diagnosed with TSC and other neurological conditions.”
Anita Bhatia, MHA, Executive Director, Ramesh and Kalpana Bhatia Family Foundation
The goal of Anya’s Accelerator is to catalyze the development of biomarkers to aid clinical care and the development of interventions for autism behaviors and other impactful aspects of TAND.
- Developing quantifiable patient-reported outcomes for the most impactful aspects of TAND utilizing the combined expertise of individuals and families living with TSC and clinical researchers;
- Identifying biomarkers and predictors of specific aspects of TAND through collaborative and inclusive analysis of existing samples and data; and
- Improving the translatability of and testing candidate drugs in TAND-relevant animal models by incorporating biomarkers or predictors relevant to those identified in humans.
The need to improve the diagnostic journey
We don’t know who will experience TSC-Associated Neuropsychiatric Disorders (TAND) and how those manifestations will progress in severity. Current screening methods for comorbidities like autism can be delayed, missing the opportunity for early intervention.
The development of tools to better measure TAND symptoms–diagnosis, progression and response to therapy–can lead to quicker detection and ultimately improved outcomes.
The process for developing blood-based biomarkers
The TSC Alliance is seeking both blood samples and neuropsychiatric scores (e.g. ADOS, anxiety and depression) for the TSC Natural History Database and Biosample Repository. Blood samples will be analyzed using artificial intelligence to determine if there is a correlation between the quantified data and TAND symptoms. Positive correlations may be markers for TAND diagnosis and progression (similar to A1C in diabetes).
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Progress and next steps
We have already collected 78 samples and 6 sibling controls (who don’t have TSC) and have performed protein analysis and whole genome sequencing on these samples.
Help us advance TAND research!
We need an additional 100 pediatric and 100 adult TSC participants donating blood and neuropsychiatric data, as well as sibling or parent control samples.
How to get involved
If you are an individual or a caregiver of an individual with TSC and are interested in providing a sample and data for this effort, please enroll in the TSC Natural History Database & Biosample Repository. Please complete the form below expressing your interest.