Message From the Directors
Rarely in basic or clinical research do we have the thrill of seeing results translated into therapies that transform lives. Such an opportunity now exists within the Stanford Institute of Neuro-innovation and Translational Neurosciences where critical discoveries in the laboratory are being translated into viable treatment strategies for patients and their families. Within this institute, the Stanford Center for Down Syndrome Research is entering a new era.
Dr. Craig Garner and new Co-Directors Dr. Craig Heller and Dr. Heidi Feldman are leading a new and expanded collaborative effort between researchers and clinicians who study Down syndrome and related disorders. Our top priority is to evaluate in the clinic discoveries made with animal models of Down syndrome in order to improve the health and well-being of individuals with Down syndrome. We are extremely excited about this new joint venture between clinical and basic scientists at Stanford. Our mission is clear and simple: create a vibrant interdisciplinary team focused on improving learning, communication and independence among individuals with Down syndrome.
The primary goals of the Stanford Center for Down Syndrome Research are:
- Promote clinical and basic research programs to understand the underlying causes of learning deficits and communication disabilities in Down syndrome.
- Develop pharmaceutical and behavioral therapies for individuals with neurodevelopmental and neurodegenerative deficits.
- Offer clinical programs and educational workshops for Down syndrome individuals and their families.
- Plan and execute clinical trials of promising therapies that can improve the lives of individuals with Down syndrome and their families.
Although our immediate target is Down syndrome, the work of the Center will also contribute to other neurodevelopmental and neurodegenerative disorders. For example, Down syndrome is associated with developmental delays, attention deficit, depression, and early-onset Alzheimer’s disease. Our basic and clinical research will address these various aspects of Down syndrome through synergistic interactions and collaborations between Stanford clinical and basic science researchers. Thus, the Center will integrate the experience and talents of scientists working on neurochemistry, neural anatomy, child development, Alzheimer’s disease, sleep, circadian rhythms, epilepsy, mood disorders, and language acquisition. An important asset of the Center that will promote vibrant, innovative, collaborative research is its core facility supporting animal models of the numerous disorders and deficits that we are striving to understand and ameliorate.
At all levels, the activities of the Center will be guided by the strong desire to improve the lives of Down syndrome individuals. We therefore plan to engage the Down syndrome community in the work of the Center. We will organize several Down syndrome Workshops each year inviting families to Stanford to hear about the latest research, to consult with experts on different aspects of the syndrome, to receive clinical evaluations of language and cognitive abilities, and to learn about opportunities to participate in clinical research and therapy trials. We wish to become a valued resource for the Down syndrome community.
We invite you to join us in bringing this vision to reality. Even if you do not have an individual with Down syndrome in your family or in your circle of friends, we hope you will appreciate the enormous personal reward that can come from helping others overcome the difficulties associated with Down syndrome. We have candidate therapies to bring to clinical trial, and we would like to share with you the joy of having very positive impacts on the lives of those with Down syndrome and other learning and communication disorders.
Sincerely,
Dr. Craig Garner, PhD
Dr. Craig Heller, PhD
Dr. Heidi Feldman, MD, PhD
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 decline 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. At the Center, we 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!
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 and 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.
