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Tracking down genes that confer resistance to Huntingtons could lead to new treatment approaches for a devastating neurodegenerative disorder, and brain aging itself.
Its like having the symptoms of ALS, Parkinsons disease, Alzheimers disease and major depression, all at the same time.
Thats how Jackson Laboratory Professor Catherine Kaczorowski describes Huntingtons disease, an inherited neurological disorder characterized by abnormal involuntary movements, severe mental decline, and emotional changes including irritability and depression. Symptoms usually appear during a patients prime working and child-rearing years (ages 30 to 50), and there is currently no treatment to delay onset or progression.
Examining the genetics of rare disease
The National Institute of Neurological Disorders and Stroke has awarded Kaczorowski a five-year grant totaling $5,171,556 to study the genetic mechanisms controlling resilience to Huntingtons disease.
Kaczorowski, who holds the Evnin Family Chair in Alzheimers research at JAX, pursues a novel approach to neurodegenerative diseases. Rather than chasing down the myriad genes associated with causing the diseases, she seeks out genes that confer protection against cognitive decline.
Huntingtons disease is caused by an inherited defect in a gene, huntingtin, that everyone carries. Whats different about Huntingtons patients is the overduplication of a section of the gene, a sequence of bases identified as...