Down Syndrome
Research Center

Research


What is our research focus?

We have made it our priority to understand cognition in people with Down syndrome.

Why cognition?

Thanks to medical advances, heart problems and other physical issues have been effectively taken care of. Because of this success, individuals with Down syndrome live much longer than just 15 years ago. Even though it is a major component of the disability, problems with cognition have not been properly addressed. Until recently, cognitive aspects of the disorder were viewed as too complex to understand. Although it will certainly not be an easy task, we believe that it is time to address the issue of cognition in both children and adults with Down syndrome.


What is cognition?

Cognition is a somewhat abstract concept: It involves processing of the information we perceive, understanding and remembering the environment around us, and being aware of ourselves. Attention, learning, memory, and judgment are all part of what we call cognition. Scientists who study cognition want to find out “how the brain thinks.” Cognition requires the operation of a large number of specific brain circuits, each of which processes a certain type of information.


The hippocampus

A specific region in the brain that is selectively affected by Down syndrome is called the hippocampus. Evidence from studies of brain structure and function in people with Down syndrome and Down syndrome mouse models point to the involvement of the hippocampus. This brain structure is essential for learning and memory. Because of the importance of this area, our research focuses largely on the hippocampus and its surrounding network of cells. We are devoting special attention to the area where information is transferred between brain cells. These areas are called synapses. By examining the structure and function of synapses in the hippocampus, we are hoping to better understand and treat abnormal cognition in Down syndrome.


Our central hypothesis

Based on evidence from people with Down syndrome and studies in mouse models, we hypothesize that cognitive dysfunction is in part due to abnormalities in the structure and function of synapses.


How exactly could these abnormalities come about?

Because there are more chromosome 21 genes in people with Down syndrome, there is increased gene activity. Our hypothesis is that the activity of one or more of these extra genes leads to cognitive impairments. The question to answer is exactly which genes are responsible.


What is our research strategy?

In theory, our research strategy is straight forward: Identify the genes responsible for the cognitive deficits in Down syndrome, try to understand how these genes influence cognition, and then find treatments that will turn down or turn off the activity of the extra gene(s).

In practice, a research team is required to tackle the problem from a variety angles. This is why we have assembled a talented team of scientists and clinicians at our center. Each researcher is studying the problem on a different level: from genes, to molecules, to cells, to neuronal circuits, and to the whole brain. With this collaborative effort, we hope to eventually put all the puzzle pieces together. Once we have identified which genes are responsible for the cognitive deficits and understand how increased activity of these genes influences cognition, we will try to find treatments that decrease this activity. Each new research lead will be pursued as rapidly as possible. We intend to accelerate the application of research advances to the care of people with Down syndrome.


Mouse models of Down syndrome - A core element of the center

One very powerful research tool available at our center is a mouse model of Down syndrome. This mouse is designed to have an extra copy of mouse chromosome 16, which is very similar to chromosome 21 in humans. This model has already helped us confirm that there are structural and functional changes in the synapses of hippocampal cells.

To find out more about mice in Down syndrome research check out our News and Views Issue No. 2.

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