Down syndrome, a common chromosomal disorder, is caused by a condition known as Trisomy 21. In the United States, Trisomy 21 occurs in approximately one in 733 births, and more than 400,000 people have Down syndrome.
Individuals with Down syndrome have an elevated risk of developing childhood leukemia. Despite this, the incidence of solid tumors like breast cancer among individuals with Down syndrome is remarkably lower when compared to people of the same age who do not have Down syndrome. This suggests there is a powerful gene or genes on Trisomy 21 that suppress the growth of solid tumors.
Dr. Eugene Yu and his collaborators will analyze the genomes of rare solid tumors isolated from patients with Down syndrome and determine if there are any significant genetic differences beyond Trisomy 21 that made the patients more susceptible to solid tumors. If these genomic alterations are uncovered, they will be re-created using chromosome engineering technology in laboratory models. Dr. Yu’s laboratory is one of few in the world with the capacity to engineer these types of genomic changes. This research is made possible because of generous donations like yours.
“The long-term goal of this project is to fully understand the underlying molecular mechanism and possibly discover more effective strategies for preventing and treating solid tumors in the general population,” said Dr. Yu.