Genomic Evaluation of Rare Diseases   

UCLA researchers are seeking individuals with rare genetic disorders and their family members to participate in a research study funded by the National Institutes of Health (NIH) & California Institute for Regenerative Medicine (CIRM).

 We want to draw blood for laboratory studies of cells. We will use blood samples to identify disease-associated biomarkers for diagnosis and for future assessment of any new therapies. We will draw 3 vials of blood for this study. All ages may participate. We encourage parents and siblings to participate as controls samples for this study.

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Name of Child (Participant in study) *
Participant's Date of Birth *
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Name  of parent/guardian *
(email) Contact information of parent/guardian
 *
(best phone number) Contact information of parent/guardian
 *
Will you be at the 2023 KAT6 Conference in Boston, Massachusetts?  *
Genetic Testing for my child shows  pathogenic mutation in  *
Thank you for your interest in our study! 
We are dedicated to ensuring high-quality research studies that include individuals with KAT6A and KAT6B mutations. Please reach out to us at varboleda@mednet.ucla.edu if you have additional questions. We will be contacting participants by email to complete the informed consent process! Thank you!  
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