DEFINING THE CAUSES OF NEURODEGENERATIVE DISEASE &
DEVELOPING EFFECTIVE TREATMENT STRATEGIES.
Outlined below are some of the major disease areas that we study in the Center for NeuroGenetics. A major unifying theme is that many of these diseases are caused by DNA repeat expansions. Repeat expansions cause over 50 human diseases, and this list continues to grow as new mutations and diseases are discovered.
Disease Focus Areas
Amyotrophic Lateral Sclerosis (ALS)
ALS, or Lou Gehrig’s disease, is a progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control.
Myotonic Dystrophy (DM)
Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. Although it is the most common form of muscular dystrophy, it also affects many other body systems, including the heart and brain.
Spinocerebellar Ataxias (SCAs)
The SCAs are a group of genetic disorders characterized by slowly progressive incoordination of gait and hands. It is also often associated with speech, swallowing and eye movement abnormalities.
Huntington Disease (HD)
HD is a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain. It deteriorates a person’s physical and mental abilities usually during their prime working years and has no cure.
Alzheimer’s Disease (AD)
Alzheimer’s Disease (AD) is the most common cause of dementia in the elderly; beginning with subtle memory loss and progressing relentlessly. AD ultimately involves higher cognitive functions, leading to complete incapacitation, and devastating consequences.
Novel Repeat Expansion Diseases & Other Diseases of Interest
The field of neurogenetic diseases, is constantly growing and evolving. Other diseases of interest to CNG faculty include neuropsychiatric disorders, cancer, macular degeneration, and more.
Shared Techniques and Approaches
While our work mainly centers around specific neurodegenerative disease, some common techniques and approaches can be found throughout our work.
LabS in the CNG
Dr. Ranum studies the molecular genetics of neurodegenerative disease focusing on understanding the mechanisms and contribution of RAN proteins and the development of therapeutic strategies.
Dr. Fujii’s research unravels how neurodegeneration and disorders are promoted by the error protein synthesis, and how increasing the fidelity of protein synthesis will help to care for diseases.
Dr. Swanson’s lab studies the regulation of RNA processing during mammalian development and aging and how this regulation is altered in neurodegenerative diseases.
Dr. Wang’s lab uses computational, molecular, and cellular approaches to study all aspects of gene regulation, with a focus on RNA processing and RNA localization in repeat expansion diseases.