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Retinoblastoma (RB) is the most common childhood eye cancer forming in one or both developing eye(s) of babies and toddlers. RB affects approximately 8000 children every year worldwide and is most often diagnosed before the age of 3. This cancer is a significant cause of vision loss, leads to eye removal in upwards of 50% of advanced cases and is life threatening if untreated. Unlike other pediatric cancers, RB cannot be directly biopsied due to risk of cancer spread outside the eye. Therefore, the diagnosis and ocular prognosis (the likelihood of saving the eye with therapy) for children with RB is made on the basis of clinical examination alone.
In 2017, this paradigm changed when Dr. Berry’s team demonstrated—for the first time—that the aqueous humor (AH), a clear fluid accessible from the front of the eye, contains DNA from the tumor and could be used for diagnosis and prognosis for saving the eye.
We are the first laboratory in the world to develop this pioneering approach to using the aqueous humor as a liquid biopsy for children with retinoblastoma.
In addition to developing the first liquid biopsy for children with retinoblastoma, we are: