IMAGE: Cone precursor cells, the photoreceptor cells of the retina that detect color, are in green. The red identifies the protein product of the RB gene, which is needed to suppress… view more
Credit: Children’s Hospital Los Angeles
Retinoblastoma is a tumor of the retina that generally affects children under 5 years of age and accounts for approximately 4% of childhood cancers. If not diagnosed early, retinoblastoma may result in loss of one or both eyes and can be fatal. David Cobrinik, MD, PhD, of the Saban Research Institute of Children’s Hospital Los Angeles, has made key discoveries to advance our understanding of this cancer. His team showed that retinoblastoma arises from abnormal proliferation of a cell type called cones in the retina, the light-sensing layer behind the eye. A mutation in a tumor-suppressing gene called RB effectively releases a brake on cell growth, causing cones to grow out of control and form a tumor. Children who inherit a mutated form of RB have more than a 95% chance of getting retinoblastoma. Given this strong correlation, an understanding of how RB mutations affect cone cells could lead scientists towards an intervention in the disease.
Dr. Cobrinik received a $1.6M
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