Microsatellite repeat expansion diseases are a large and ever-growing family of 50+ neurodegenerative disorders (reviewed in Sznajder et al, Int J Mol Sci 2019 and Malik & Kelley et al, Nat Rev Mol Cell Bio 2021). New repeat expansion disease loci continue to be discovered as technologies for sequencing and mapping DNA continue to improve. Most of our human genomes are comprised of highly repetitive DNA sequence, and we believe that this area of research will continue to grow in the near future.
Many of these mutations may be hiding in plain sight amongst diverse neurological diseases, like dementia and autism. The importance of expansion diseases is further underscored in the way can affect every organ system in the body. Therefore, a wide variety of organ systems in addition to the brain, may be caused by one or multiple dynamic mutations.
Our research on novel repeat expansions involves developing tools, techniques and strategies that can be employed to identify these diseases in patients that lack current genetic diagnosis. Since the underlying disease process (i.e. the expansion of a repeat) is the same, many of the lesson we learn from existing diseases, like ALS, HD or DM, can be applied to identify new expansion diseases and quickly generating therapeutic approaches. Close collaborations between clinicians, pathologist, researchers and patient advocacy groups are essential to identifying new repeat expansion disorders.
Get Involved with Research
If you would like information about any of the opportunities listed below, please contact Deborah Morrison.
We are currently recruiting for a variety of trials and studies. Click the link below to learn more about our work and to see if you’re eligible.
Patients with neurodegenerative diseases being treated at the Fixel Institute may participate in these ongoing studies. The goal is to collect biospecimens to study in the lab.
Are you a passionate student or post-doc looking making to an impact on Neurogenetic research at the University of Florida? Candidates are encouraged to contact individual CNG faculty members to inquire about research opportunities in the CNG.