Overview

In genetics, more of a good thing is usually too much.
 
So it is in Down syndrome, otherwise known as trisomy-21, in which three copies of chromosome 21 instead of the usual two causes a significant disorder. Exactly why the extra chromosomal copy creates such havoc is still unknown, and research is ongoing.
 
The animal model most valuable for Down syndrome research—a mouse known as Ts65Dn—was identified and characterized at the Laboratory. Given that trisomy-21 is commonly discovered prenatally, interventions to mitigate or prevent the developmental and cognitive challenges of Down syndrome are feasible and hold the potential to significantly improve patients' lives.

News

Most of Professor Muriel Davisson's long career in genetics research at The Jackson Laboratory has involved finding spontaneous mutations in mice and genetically mapping and characterizing them.

Davisson is best known within her field for developing a mouse model for Down syndrome, a condition related to a chromosomal anomaly linked to mental retardation in more than 350,000 Americans. Over the past two decades, her mouse model has proven so essential to research that the National Down Syndrome Society named Davisson the group's 2002 "Researcher of the Year."

"It is the model being used by most scientists who are doing research on Down syndrome and studying behavior, memory and how kids learn if they have Down syndrome," she says. "They can now study this mouse."

Dr. Davisson's mouse model, known as Ts65Dn, is driving Dr. Alberto Costa's quest to cure Down syndrome—the disease that plagues his daughter, Tyche.

Read the New York Times article: A drug for Down syndrome