The Mustafi Lab is investigating the genetic basis of inherited retinal degenerations (IRDs) and potentials for therapeutic intervention to prevent progression of blindness. In the pediatric population, IRDs are a major cause of visual impairment and can be one of the first presenting features of a syndromic condition. Early genetic diagnosis of such conditions may mitigate morbidity and allow appropriate genetic counseling. 

The goal of the lab is to uncover the mechanistic details of IRDs to develop targeted therapies to benefit patient's visual needs.

The Mustafi Lab is applying emerging long-read sequencing technology to better understand pathogenic variants that cause IRDs. Using blood and saliva samples from affected IRD patients and their families, the lab carries out genome sequencing to identify novel pathogenic variants of disease and reconstruct disease haplotypes, which has implications for the interpretation of disease risks. Isolated blood samples can also be used to generate patient-specific stem cells to better study the pathogenicity of disease variants. 

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