Corey Haas, age 8, of Hadley, New York. LCA2 patient.
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Transcript of Corey Haas, age 8, of Hadley, New York. LCA2 patient.
Corey Haas, age 8, of Hadley, New York.LCA2 patient
What can we do about LCA2?What do we need to know first?
Dataset 1: A family history
Genetic? Infectious? Environmental?
Dataset 2: Eye physiologyAffected and unaffected individuals
Clarity measurements
Latency and amplitude of nerve transmission
Dataset 3: Molecular information
Affected and unaffected individuals
Measurements of rhodopsin, cis-retinal, trans-retinal, Na+ concentration, mitochondria and DNA amounts
Retinal
lightChange in [Na+] sends a signal down the optic nerve
cis-retinal
trans-retinal
lightChange in [Na+] sends a signal down the optic nerve
RPE65
lightChange in [Na+] sends a signal down the optic nerve
RPE65
LCA2!
lightChange in [Na+] sends a signal down the optic nerve
RPE65
LCA2!
Can we replace the defective RPE65 gene with a functional gene?
Corey HaasAfter RPE65 gene therapy on one eye