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Distinguished Speaker Series | Debarshi Mustafi, MD, PhD

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In person and on Zoom
GHEI building, UCI
3d floor, Cavanaugh Room A & B

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The Center for Translational Vision Research Distinguished Speaker Series, also known as "Friday Seminars" showcases innovative research across the world. The seminar series has now been expanded to include lectures by experts on topics ranging from Ophthalmology, Genetics, Biochemistry, Neurobiology, Imaging, Computational Sciences to Novel Ophthalmic Treatments.

January 26, 2024 |  Debarshi Mustafi, MD, PhD

A New Paradigm in Retinal Genetics: Targeted long-read sequencing provides rapid phased variant identification to improve diagnostic yield in Mendelian diseases of the retina

 

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Debarshi Mustafi, MD, PhD
Debarshi Mustafi, MD, PhD
  • Assistant Professor of Ophthalmology, University of Washington, Pediatric Vitreo-retinal Specialist, Seattle Children’s Hospital

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.