Research :: Current Research

The Center for Research and Treatment of Down Syndrome at Stanford University:

CENTER GOALS

The goals of the Center are to understand the biological basis for cognitive impairment in DS and to accelerate the development of effective treatments.

A UNIQUE RESEARCH MODEL

The Center will accelerate research with a multidisciplinary approach, utilizing expertise in genetics, molecular and cellular biology, biology of neural circuits and behavior.

The integration of basic and clinical research will occur through work with a DS Clinic at Stanford and through the use of important clinical tools such as functional MRI.

Progress will be accelerated by collaboration with researchers at other institutions, in industry and in government. Recently the Center helped to secure the funding that will significantly increase the production of engineered mouse models of DS for use by all DS researchers.

Established in 2003, the Center is officially designated as part of the Neuroscience Institute at Stanford. The Center Director is Dr. William Mobley and the Co-Director is Dr. Craig Garner. The Center emphasizes a multi-disciplinary approach that emphasizes the application of research findings to advance the creation of effective treatments. The Center also places a priority on collaboration between researchers within the Center and at other institutions. Some of its most recent research focuses on synaptic development, function and maintenance in Down syndrome, as well as behavioral studies of mouse models and imaging cognitive function of Down syndrome.

Because DSRTF believes that the research model at Stanford is the most promising to come along in many years, we are directing most of our research funding to the Stanford Center during 2004 and 2005. In 2004, DSRTF contributed $500,000 to the Stanford Center. DSRTF plans to support research at other institutions that emphasize a similar multi-disciplinary approach aimed at producing effective treatments.

Visit the Center’s Website: http://dsresearch.stanford.edu/

Current Projects

Synaptic Development in DS - Dr. Craig Garner Ph.D.

There are abnormalities in the development of synapses in the mouse models of DS. Further work explores the effect of gene expression on synapse development and hopes to determine the impact of a small subset of neurons that may play a regulatory role.

Synaptic Function in DS - Dr. Robert Malenka M.D., Ph.D.

The signaling function of synapses is impaired in mouse models of DS. This study characterizes the changes in synaptic transmission and will identify the proteins that contribute to the dysfunction.

Synaptic Maintenance in DS - Dr. William Mobley M.D., Ph.D.

Studies of mouse models of DS show that neurons involved in attention, memory and cognition begin to degenerate within the first few months of life due to abnormal transport and signaling of a certain protein (NGF). Further study will identify the gene(s) responsible and will explore drug therapies to prevent improper signaling.

>> Read Mobley's Congressional Testimony

Behavioral Studies of Mouse Models of DS - Dr. Lucille Jacobs Ph.D.

This project will study behavioral phenotypes of mouse models of DS, focusing first on learning and memory tasks, to identify how changes in synaptic structure and function compromise performance.

Imaging Cognitive Function in DS - Dr. Allan Reiss M.D.

Studies of children and young adults with DS, using functional MRI, will bring fresh insights into cognition in DS and will bridge the studies in mouse models of DS and people with DS.