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Albinism: Can It Become a Treatable Disease?

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Brian Brooks, M.D., Ph.D.

Senior investigator
Pediatric, Developmental, and Genetic Ophthalmology Section
National Eye Institute
National Institutes of Health

Timothy A. Johnson Medical Scholar Lecture: Albinism: Can It Become a Treatable Disease? 

Sept. 16, 2022

1 to 2 p.m.

Location: Fralin Biomedical Research Institute at VTC, Room M203, 2 Riverside Circle, Roanoke, Virginia

Virtual attendance: Join via Zoom.

About this Seminar

Oculocutaneous albinism (OCA) is a genetically and phenotypically heterogeneous, autosomal recessive condition characterized by reduced melanin in the hair, skin and eyes.  Difficulties with vision such as reduced best-corrected acuity (due to abnormal development of fovea, a specialized area of the neural retina) and difficulty with and glare sensitivity (likely due to reduced absorption of stray light) are common in people with albinism encounter.  We do not understand why reduced melanin in the pigmented layers of the eye (i.e., the retinal pigment epithelium (RPE) and/or the choroid) affect the development of the fovea and other aspects of the neural retina (where pigment genes are not expressed).  If this process were understood, however, we may be able to devise treatments that improve vision if exacted during the period of foveal development soon after birth.

This lecture will review what is known about the clinical presentation, genetics and biology of albinism, including discussion of the melanogenic pathways.  It will discuss data on preclinical and pilot clinical trial repurposing of the FDA-approved drug, nitisinone (NTBC) and efforts for large-scale drug screens to activate tyrosinase, the first and rate-limited enzyme in melanin synthesis.  Lastly, it will cover recent characterization of RPE cells from induced-pluripotent stem cells (iPSCs) as a method for identifying differences between albinism and control cells with a focus on druggable targets. 

 

Additional Details

This is a free event hosted by the Fralin Biomedical Research Institute and the Virginia Tech Carilion School of Medicine. The Timothy A. Johnson Medical Scholar Lecture Series hosts clinician scientists who are exploring frontiers of medicine. These lectures are principally intended for Virginia Tech Carilion School of Medicine students and Virginia Tech students in the Translational Biology, Medicine, and Health graduate program. Virginia Tech and Carilion Clinic faculty, staff, and students may also attend.

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