Proposed Updated Rare Genetic Disease Paradigm (IMAGE)

Mass General Brigham

Proposed Updated Rare Genetic Disease Paradigm

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New findings from researchers at Mass Eye and Ear, a member of the Mass General Brigham healthcare system, indicate that rare genetic diseases like inherited retinal degenerations are not monogenetic as they have been thought to be (left); rather, additional genetic or environmental modifiers are required to manifest disease (right).

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Created in BioRender. Pierce, E. 2025, Mass Eye and Ear

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