ACE Biobank
What are the goals of this study?
- To build a biobank with biological samples from patients with Williams syndrome and their families. We will be collecting important biological, clinical, and genomic data that can be used to study Williams syndrome and test novel therapeutic approaches.
Who can be a part of this research study?
- Individuals diagnosed with WS and their families.
- Individuals with mutations, deletions, and amplifications within 7q11.23 region
What will you be asked to do?
- Provide a blood sample (we will work with you to make it as easy as possible and align it with the blood draw for medical needs)
- Share health records with our team
- We will ask if you are interested in sharing residual tissue from any upcoming or future surgeries for research purposes
What will happen to donated blood and tissue samples?
- We will use it for multiple experiments: we will be isolating DNA, creating cell lines and performing various laboratory tests (for example – analyzing what proteins reside on cell surface, or characterizing other cellular features).
What are the benefits of taking part in this research study?
- Biobank will provide an essential tool for researchers studying WS: donated samples will be used to learn about WS and to test novel therapeutics
- Results of the work conducted with donated samples will increase our understanding of WS biology
Will I be paid for taking part in this study?
- Participants and caregivers will receive compensation for the donated blood sample
I'm interested! How do I participate?
- If you have any questions or would like to join the research study, please contact: aceforws@pennmedicine.upenn.edu with “Research” in the subject, or call 888-722-3497 for more information!