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Oxford-Harrington Rare Disease Scholar Award
November 22, 2022
When a baby is born, each cell in his or her body contains 23 pairs of chromosomes, or 46 chromosomes in total, with half coming from each parent. At least, this is the case for most of us.
The biological machinery responsible for assuring proper chromosome distribution can sometimes go awry. This can result in a range of serious genetic diseases, the most common of which is known as Down syndrome. In this case, an extra copy of chromosome 21 is inherited from one parent. The condition is also known as Trisomy 21.
In addition to an array of purely physical abnormalities, virtually all Down syndrome patients develop Alzheimer’s disease, usually between the ages of 40 and 50. There are no available treatments to prevent or mitigate the progression to Alzheimer’s disease for these individuals.
However, Arizona State University researcher Travis Dunckley and University of Arizona Professor Christopher Hulme and their colleagues have developed a candidate drug they hope may successfully block the development or advancement of Alzheimer’s disease in Down syndrome patients. The drug acts by decreasing the levels of Dyrk1a, a particular type of enzyme known as a kinase, which is overexpressed in Down syndrome patients.
“This particular kinase seems to be involved in a lot of the cognitive deficits of Down syndrome, and particularly in the early-onset Alzheimer's disease of Down syndrome,” says Dunckley, assistant research professor with the ASU-Banner Neurodegenerative Disease Research Center.
Dunckley and Hulme have founded a startup company to push the new drug through additional studies and develop it for human use. The company, Iluminos Therapeutics, LLC, has received a three-year, $3.5 million federal Small Business Technology Transfer grant to test the latest iteration of the drug in a mouse model and perform IND-enabling studies, thereby positioning the compound for clinical trials.
If successful, the drug will be a medical milestone for those with Down syndrome. It also may represent a new approach to the treatment of late onset Alzheimer’s disease, the most common form of dementia in the general population. The methodology may eventually be applied to other neurodegenerative diseases as well.
University of Arizona