A research team led by Assistant Professor Erik Bloss and Professor Gareth Howell, and including predoctoral associate Sarah Heuer, explores how different genetic contexts affect the impact of early-stage Alzheimer's disease on neuronal circuits.
Consider this scenario: Jayne is 50 years old and has experienced progressing neurological symptoms over the past two years with no diagnosis. She recently had exome testing which show no genetic variants that explain her symptoms, but identifies a pathogenic variant (mutation) in MSH6.
There are more than 7,000 rare (also known as orphan) diseases affecting over 350 million people worldwide. Developing new therapies for rare diseases is very challenging, given the small patient populations available for clinical trials. Therefore, animal models, in particular genetically engineered mice, have become one of the most valuable assets in all of the phases of preclinical orphan drug development.
A complicated three-dimensional network involving proteins and specific DNA sequences helps regulate the expression of genes. New work led by JAX’s Chia-Lin Wei shows how one protein, SOX2, plays a significant role in neural stem cells, affecting many aspects of development and function.