We host a series of online journal clubs, highlighting the use and the applications of our OptoDrum device. Scientists present their projects and new data, and you can learn about the latest developments in the field. We always schedule time for Q&A at the end of the presentation so that you can ask your questions and discuss the findings.
Register below to attend our Journal Club Series.
Next online Journal Club
Visual Acuity as a Relevant Phenotype in Mouse Models of Rare DiseaseZoë Bichler, PhD - The Jackson Laboratory
Maximiliano Presa, PhD - The Jackson Laboratory
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 developping and sharing research, tools and solutions, data resources, and more than 11,000 specialized mouse models.
In today's presentation, we will briefly introduce the Center for Biometric Analysis (CBA), which includes several phenotyping cores, and in particular the Neurobehavior Phenotyping Core (NBP). We show how we have validated visual acuity measurements at the NBP. We will present two projects where visual acuity measurements have been valuable for characterizing progression in rare diseases:
- Validation of visual acuity measurements
- 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.
- Practical applications of visual acuity testing as reliable method for retinopathy assessments.
About the speakers
Zoë Bichler, PhD
Head of the Neurobehavioral Phenotyping Core at the Center for Biometric Analysis
The Jackson Laboratory
Maximiliano Presa, PhD
Technology and Resource Development Scientist
The Jackson Laboratory
My research is focused in the development and characterization of new mouse models for human diseases. We are applying cutting-edge CRISPR/Cas9-based genome editing technology for a precise engineering of the mouse genome with the goal of reproducing human clinical alleles (knock in and knock out models). Together with the generation of transgenic mouse models expressing human gene variants, we are expanding the genetic tools available for the scientific community in areas like ALS, Charcot-Marie-Tooth, lysosomal storage diseases and several others rare disorders. Our validation process starts with a general molecular analysis based on gene expression and protein analysis as well as molecular markers relevant to the disease. The process is followed for a rigorous biometric analysis where we look for survival, growth and behavioral phenotypes. We also complement our analysis with electrophysiology, in vivo imaging and histopathology assessments. Our team is highly specialized in downstream in vivo applications for pre-clinical testing of new compounds and treatments. We have succeeded in pre-clinical gene therapy studies for Charcot-Marie-Tooth-type-4J and currently ongoing gene therapy for multiple sulfatase deficiency (MSD). Thus, we are contributing to the research community with better mouse models and setting new platforms for future development of more precise therapeutic strategies.