For those in the rare disease community, you know that it can take a long time to reach a diagnosis for your condition: an average of 4.8 years! But upon diagnosis, many also discover that there is no cure. That was the case for University of North Texas undergraduate Allison Taylor. At age 18, she was diagnosed with Charcot-Marie-Tooth disease. Despite a relatively quick and easy diagnosis, there is no cure for CMT. However, Allison dedicated her entire undergraduate career to making that change.
Charcot-Marie-Tooth (CMT) disease is a rare hereditary neurological disorder which causes nerve damage to brain and spinal cord (peripheral) nerves. Hereditary motor and sensory neuropathy is another name for this disorder.
Mutated CMT genes cause Charcot-Marie-Tooth disease. However, the subset depends on the particular mutation. For example, someone with a mutated CMT1 gene would have a different form of the condition than someone with a mutated CMT3 gene.
However, all forms of CMT cause nerve degeneration. This causes difficulty in muscle movement and transmitting information from the brain to the rest of the body. Symptom onset usually occurs by early adulthood. These symptoms include muscle weakness and atrophy in the hands, loss of fine motor skills, foot abnormalities, and weakness, muscle atrophy, and abnormalities in the lower legs.
There is no cure for Charcot-Marie-Tooth disease. However, pain management and physical therapy can assist with symptom mitigation. Learn more about Charcot-Marie-Tooth disease.
When Allison received her Charcot-Marie-Tooth diagnosis, she wasn’t surprised. After all, the condition ran in her family: her grandfather, mother, and sisters all have it. So when she first started college, Allison aspired to be a genetic counselor.
But things soon changed. Allison became immersed in research. She found it deeply interesting to be able to explore topics of her choice, to dig into and analyze the minute, complex details.
First, she joined the UNT Phage Hunters Advancing Genomics and Evolutionary Science (PHAGES) program. Students in the program study bacteriophages, or viruses that infect bacteria. Next, Allison studied the evolution of gap junction beta proteins at the National Science Foundation Research Experience for Undergraduates.
Why did she pick gap junction beta proteins? Well, malfunctions, mutations, or broken proteins result in Charcot-Marie-Tooth disease.
The Journey Towards Neuroscience
As Allison approached her junior year of college, she craved learning more about CMT. She began exploring cellular mechanisms in a neuroscience laboratory. Eventually, Allison even settled on an honors thesis topic: the role of Schwann cells in Charcot-Marie-Tooth disease progression. She explains:
“Schwann cells support nerve regeneration of the peripheral nervous system and are the coolest cells in the human body.”
Now, you might ask, what exactly are Schwann cells and why are they so cool? Well, Schwann cells help develop the myelin sheath, or the protective covering around nerve cells. But when nerves are severed or broken, Schwann cells fill in the degenerated area and help it to recover. Through her research, Allison wanted to see if these cells could be harnessed for future gene therapy.
Her desire for research ultimately led her to pursue a career in neuroscience. She aims to use her future career to better understand, and further research on, Charcot-Marie-Tooth disease. Soon, she will get the chance during her post baccalaureate studies at UC-Davis.