Zoë Bichler, PhD and Maximiliano Presa, PhD present various projects where visual acuity measurements have been valuable for characterizing progression in rare diseases.
The Jackson Laboratory (JAX) is integrating mouse genetics and human genomics to decipher the genetic and molecular causes of human health and disease. JAX supports the global biomedical research community by developing and sharing research, tools and solutions, data resources, and more than 11,000 specialized mouse models.
The Center for Biometric Analysis (CBA) is introduced, which includes several phenotyping cores, and in particular the Neurobehavior Phenotyping Core (NBP) who have validated visual acuity measurements. They present how two projects where visual acuity measurements have been valuable for characterizing progression in rare diseases:
- Use of visual acuity test in a mouse model for Charcot-Marie-Tooth disease (CMT2a), a hereditary motor and sensory neuropathy of the peripheral nervous system.
- Visual acuity test applications to preclinical testing of gene therapy for Multiple Sulfatase Deficiency (MSD), a lysosomal storage disease.
Key Topics Include:
- Validation of visual acuity measurements at JAX
- Application of visual acuity measurements to characterization of new mouse models for human diseases preclinical evaluation of gene therapies
- Understand how JAX validates tests, analyzes data and offers services to researchers
- Present practical applications of visual acuity test as reliable method for retinopathy assessments
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Presenters
Senior Manager, Head of the Neurobehavioral Phenotyping Core
Center for Biometric Analysis
The Jackson Laboratory
Technology and Resource Development Scientist
The Jackson Laboratory