New UCSD center investigates link between Alzheimer's and Down syndrome

A new center combining academic research with the treatment of adults with Down syndrome - one of the first in the country - has opened at the University of California, San Diego School of Medicine.

A primary focus of the new Down Syndrome Center for Research and Treatment (DSCRT) will be investigating the connection between Down syndrome and Alzheimer's disease.

"About 25 percent of individuals with Down syndrome over age 35 increasingly show clinical signs and symptoms of Alzheimer's type dementia," said William Mobley, MD, PhD, chair of the UCSD Department of Neurosciences, DSCRT executive director and a leading expert in the neurobiology of Down syndrome. "By age 60, more than half show cognitive decline."

Down syndrome is caused by a chromosomal abnormality that results in distinct physical and neurological symptoms. It is most commonly associated with children, while Alzheimer's disease is a progressive neurodegenerative condition primarily seen in later in life.

According to the National Down Syndrome Society, approximately 400,000 people in the United States currently have Down syndrome; one in every 733 American babies is born with the condition. Patients with Down syndrome are at notably greater risk of developing Alzheimer's disease.

This reality - combined with the fact that advances in health care and education mean that people with Down syndrome are now living longer, fuller lives - underscores the need for more research and better patient care, according to Mobley. Ultimately, he envisions DSCRT as a highly integrated, comprehensive system for conducting research and caring for Down syndrome patients of all ages. "Which, to our knowledge, would represent a first," Mobley said.

The center currently encompasses several research labs located at the UCSD School of Medicine, plus an adult treatment center at the Perlman Medical Offices, adjacent to the UC San Diego Thornton Hospital in La Jolla. A Down Syndrome Center for pediatric treatment, sponsored by DS Action, a San Diego advocacy group, is based at Rady Children's Hospital-San Diego.

Major emphasis of the new UCSD center will be placed on better understanding the biology of brain circuit formation and the causes of Alzheimer's disease in people with Down syndrome. A recent study, for example, suggests that boosting norepinephrine - a neurotransmitter that helps nerve cells communicate - can reverse cognitive decline and even improve cognition in mice genetically engineered to mimic Down syndrome.

"I believe it might be possible to treat Down syndrome early in life, preserving and restoring cognitive function before it is permanently lost," Mobley said. "And doing so might also prevent the damage that eventually results in Alzheimer's disease."

DSCRT scientists and doctors will also collaborate with the Down Syndrome Consortium, a new group of leaders from local research, medical and advocacy communities who will assess needs and develop a model for expanding treatment options.

"We welcome this opportunity to deliver comprehensive care and translate the latest research discoveries to the clinical realm," said Michael Rafii, MD, PhD, assistant professor of neurosciences who treats adult Down syndrome patients and serves as DSCRT's clinical director.

Rafii said the next step for the new center will be to begin developing clinical trials for young adults with Down syndrome.