Speaking to the Boston Globe at the American Society of Human Genetics meeting, Jeanne B. Lawrence, PhD, professor of cell & developmental biology, said her recent discovery shutting down the extra copy of chromosome 21 in Down syndrome may lead to new insights into what exactly goes wrong within those cells.
Dr. Lawrence told Globe reporter Carolyn Johnson that new preliminary data has already yielded tantalizing evidence that the biggest changes are not in the activity of genes on chromosome 21 but are scattered on other chromosomes, suggesting that the condition may stem from the way that the extra chromosome regulates gene activity on other, normal chromosomes.
“We’re hopeful this is a way to narrow in on what are the genes that are the most perturbed,” said Lawrence in the Globe story, published online Oct. 23. “You could do it in various cell types and ask what is going wrong in heart muscle that might contribute to general heart defects, or what’s going wrong when you differentiate neurons.”
Read the full article here: New insights into Down syndrome at Boston genetics conference