Message From the Directors
A few years ago, several parents approached Dr. Mobley with the question why so little research was being done to help understand the cognitive disabilities of children with Down syndrome. The answer was quite simple: Scientists believe that Down syndrome is a disorder that is too complex and difficult to understand, let alone one for which effective treatments can be found. For this reason, the government invests little money in Down syndrome research. As a direct consequence, few young investigators feel secure enough to embark on the ambitious mission of understanding and treating Down syndrome.
In the light of what is known about Down syndrome today, this answer seemed outdated: We know that Down syndrome is caused by extra genes located on a third copy of chromosome 21. Through the human genome project, all the genes on chromosome 21 have been identified. In theory then, an extra copy of specific genes will be linked to specific problems. It should be possible to demonstrate these linkages. In the most optimistic analysis, “all” that needs to be done now is to identify the genes that are associated with cognitive impairment and try to turn down the action of these genes to a level that is normal.
We asked ourselves what it would take to move Down syndrome research to the forefront. Two essential elements: an inspiring and motivating environment to attract the best scientists and clinicians, and funds to support their research efforts. And so we began. Together with the tireless effort and input from these parents, the Center for Research and Treatment of Down Syndrome at Stanford University and the Down Syndrome Foundation were created. We are dedicated to helping people with Down syndrome by promoting awareness of research, identifying problems and treatments, and by supporting the community.
The Center at Stanford University would not exist were it not for people like you – committed parents, advocates, scientists and clinicians – who have not given up hope. Please browse through our website and see for yourselves what we have to offer.
Yours truly,
William C. Mobley & Craig C. Garner
Center for Research and Treatment of Down Syndrome
Who are we?
We are a group of scientists and doctors who do research to understand and improve cognitive abilities in people with Down syndrome. Our goal is to help people with Down syndrome by finding ways to enhance their ability to learn and remember.
Why are we focusing on cognition?
Because this is the problem that limits the potential of people with Down syndrome. Today, health issues such as heart problems and leukemia are often successfully treated and people with Down syndrome therefore live much longer than before.
If we could assist people with Down syndrome to learn and remember more effectively, they could become more independent and maximize their potential.
We are focusing on cognitive development in children and on cognitive delcine due to Alzheimer's disease in older adults.
It’s about time!
We believe that the time is right to embark on our mission. We don’t think that it’s too complex a disorder to tackle. We know in principle that Down syndrome is caused by a third copy of chromosome 21. All the genes on chromosome 21 have been identified. Now it’s time to analyze them one by one to find out which of these genes leads to the cognitive impairments in Down syndrome. We at the Center are in a unique position: We have young, motivated scientists equipped with the latest technology. We can examine individual cells in culture or the operation of neuronal circuits in living animals. We can carry out experiments in mice and relate our findings to the problems voiced by the patients and families in our clinic or to findings from specialized imaging procedures. It’s time to put our tools to work!
More tidbits on the Center for Research and Treatment of Down Syndrome
- The Center for Research and Treatment of Down Syndrome was officially established in April 2003.
- At present, there are 8 research laboratories at Stanford University engaged in Down syndrome research.
- Three collaborating research teams are located at UC Berkeley and UC San Diego.
- In the future, we would like to engage scientists and clinicians from around the world to collaborate in Down syndrome research at the Center.
What is Down syndrome?
Most babies are born with 23 pairs of chromosomes. Each chromosome contains specific genes that determine how our bodies develop and function, including for example eye color and how tall we will grow. Babies with Down syndrome are born with 23 chromosome pairs plus one extra copy of chromosome 21. Thus, babies with Down syndrome have three copies of chromosome 21 instead of two. These extra genes are all normal. It’s just that there is one extra copy of normal genes. The extra genes throw the delicate balance of the body off kilter, leading to the distinct facial features, physical problems and mental disabilities associated with Down syndrome.
There is hope!
The good news about Down syndrome is that we know what causes the disorder. It’s the increased activity of the extra genes on chromosome 21. Unlike other disorders, where genes are mutated or missing, in Down syndrome there are just too many copies of particular genes. The task of identifying the genes that cause Down syndrome, and trying to shut off the activity of the extra genes, is in theory much simpler than trying to fix a mutated gene or trying to add one that is missing.
This is exactly what we are trying to accomplish: to analyze the extra genes one by one, to determine which ones are causing the cognitive problems. Once those genes are identified and we understand how they affect cognition, we intend to focus on finding treatments to turn off or turn down their activity to more normal levels.
