Primary Research Focus
The Weimer Lab focuses on understanding mechanisms of polarized signaling involved in development of the cerebral cortex. These processes are known to regulate the proliferation and placement of neurons, formation of axons in differentiating cells and long term maintenance and trafficking within these same processes.
The Weimer Lab draws on expertise in cell and molecular biology, genetics and behavioral neuroscience to answer questions that bridge from basic mechanisms to translational and clinical approaches to treat human disease. These questions answer how and why various scaffolding or “signaling complex” form in neurons, how disruption in these complexes can contribute to human disease and determine if these complexes may serve as druggable targets.
Specifically, the team explores a number of mechanisms involved in neural stem cell proliferation, neuronal polarity and axonal outgrowth and trafficking with the hope of advancing our knowledge of neurobiology and aiding in the future treatment of rare neural developmental disorders. This includes projects focused on neuropediatric disorders including Batten disease, cortical malformations and neurofibromatosis type I.
About the Weimer Lab
Lab Projects and News
Novel Mechanisms for Distal Transport in Developing and Mature Neurons
This study will expand our understanding of CLN6’s contribution to crucial cellular processes and start to unravel the biological significance of the CCK complex in developing and mature neurons, as well as its role and the role of intracellular trafficking in neurological disorders such as the NCLs.
The NF-1 Porcine Model Collaborative Research Program
In collaboration with NF1 investigators. we are studying a newly developed porcine model of NF1 to better understand the neurobiology of neurofibromin loss in the CNS. A longitudinal pig study examining histopathology, neurobehavior, and neurotransmitters will allow a better understanding of the molecular mechanisms of NF1.
Batten Disease and Gene Therapy
Jill Weimer, PhD, discussed gene therapy and its potential as a treatment for Batten disease with the American Society of Gene & Cell Therapy. Watch the video to learn more.
Searching for an Effective Treatment for CLN6-Batten Disease
This project brings together a team exploring small molecules/repurposed FDA approved drugs, gene therapy, cellular therapy and gene editing as possibly treatments for CLN6-Batten disease. The Weimer Lab serves as the central screening and phenotyping facility for all human patient cell line and mouse model studies.
Identifying Molecular Therapies for CLN3 Batten Disease
This project seeks to identify small molecule therapies for CLN3 disease using a cutting edge screening pipeline. After identifying new lead drugs in cell models, we perform comprehensive screens in mouse models using a combination of in-life biomarkers, histopathology, and kinematic gait analysis.
Characterizing Batten Disease Pig Models
In collaboration with Precigen Exemplar, we have designed a CLN2 and CLN3 Batten disease porcine model. These pigs are being characterized with histopathology and neurobehavior metrics to show the relevance of the model for preclinical drug testing and to develop translatable novel tools for Batten disease patient treatment.
Development of Translatable Biomarkers for CLN3 Disease
Finding sensitive outcome measures to use in clinical trials for Batten Disease has been challenging. We are performing deep profiling of blood samples from our CLN3 pig model to identify new markers that can be used to track disease progression and responses to experimental therapies.