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Retinoblastoma occurs in very young children, and in some cases, children are born with the disease
Retinoblastoma is also uncommon because it is the only cancer that cannot be diagnosed by biopsy of tissue samples
"The retinoblastoma organoids we have developed are, for the first time in history, a laboratory model where the process of retinoblastoma formation can be studied," said co-corresponding author Dr.
Demand for new models
The model provides a way for scientists to study disease in the laboratory, including both its biological basis and how it responds to potential therapies
A particular problem with models created by knocking out or eliminating the RB1 gene is that although this mutation is the basis of human retinoblastoma, mice with these abnormalities will not develop this disease
"Understanding other factors driving tumor development besides RB1 can discover new therapeutic targets, affect disease treatment, and possibly prevent the formation of new tumors," said co-corresponding author Rachel Brennan, MD, from the Oncology Department of St.
Brennan and Matthew Wilson, MD, an ocular oncologist at the University of Tennessee Health Sciences Center, co-lead the retinoblastoma clinical project.
A better way to study disease
In order to create a better research model, scientists have cultivated retinal organoids
Researchers performed whole-genome sequencing, RNA sequencing, and methylation analysis on these retinoblastomas and found that they were no different from patient samples
"This is the first example we have realized where a cell with a specific mutation successfully grows into an organoid and then naturally develops into a tumor," said the first author, Dr.
Through their work, the researchers created a large data set of single-cell analysis results for retinoblastoma
Jackie L.