CURRENT RESEARCH
Many Research Foundations have been set up to promote further research and treatment in Down syndrome. Down Syndrome Research and Treatment Foundation (DSRTF) is the primary centre.
The mission of DSRTF is to stimulate biomedical research that will accelerate the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome in order that they:
- participate more successfully in school;
- lead more active and independent lives;
- and avoid the early onset of Alzheimer's Disease
RESEARCH AT STANFORD
Extensive research is carried out at Stanford School Of Medicine, Down Syndrome Research Center. It describes a promising potential strategy for improving cognition in Down syndrome individuals. [6]
DRUG DISCOVERY
Previous DSRTF-funded studies have identified promising candidates for pharmacotherapy in Down syndrome. The following drugs, compounds and molecules are in various stages of investigation in mouse models of DS to determine efficacy, dosage amount, dosage frequency and routes of administration:
- Pentylenetetrazol or PTZ - for reducing inhibition in neural circuits and restore cognitive function.
- L-DOPS - to restore the ability to process sensory and navigational information.
NEUROTRANSMITTER RESTORATION
Dr. William Mobley of UC San Diego and Dr. Ahmad Salehi of the VA Palo Alto Health Care System identified that LC neurons, which are a principal site for the synthesis of the neurotransmitter norepinephrine with input to the hippocampus, degenerate in mouse models of Down syndrome and Alzheimer’s disease and result in reduction in levels of norepinephrine and associated neurotransmission. The shortage of norepinephrine results in an inability to process sensory and navigational information. By administering two different potential drug compounds that restored norepinephrine levels, contextual learning and memory was also significantly restored. Additional investigation and testing of the two drug compounds and others continues. [10]
MEMORY TRAINING
It has been known for a long while that children with Down's Syndrome have specific impairments in verbal short term memory.Research now indicates that memory training activities may be effective. [11]
DNA TESTING
A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities. [15]
LITHIUM RESTORES COGNITIVE FUNCTION
Researchers report that lithium, a drug commonly used for the treatment of mood disorders in humans, restores neurogenesis in the hippocampus, a part of the brain strongly associated with learning and memory. [16]
EXTRA CHROMOSOME 21 REMOVED FROM DOWN SYNDROME CELL LINE
University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's cells contain three copies of chromosome 21 rather than the usual pair. [17]
The mission of DSRTF is to stimulate biomedical research that will accelerate the development of treatments to significantly improve cognition, including memory, learning and speech, for individuals with Down syndrome in order that they:
- participate more successfully in school;
- lead more active and independent lives;
- and avoid the early onset of Alzheimer's Disease
RESEARCH AT STANFORD
Extensive research is carried out at Stanford School Of Medicine, Down Syndrome Research Center. It describes a promising potential strategy for improving cognition in Down syndrome individuals. [6]
DRUG DISCOVERY
Previous DSRTF-funded studies have identified promising candidates for pharmacotherapy in Down syndrome. The following drugs, compounds and molecules are in various stages of investigation in mouse models of DS to determine efficacy, dosage amount, dosage frequency and routes of administration:
- Pentylenetetrazol or PTZ - for reducing inhibition in neural circuits and restore cognitive function.
- L-DOPS - to restore the ability to process sensory and navigational information.
NEUROTRANSMITTER RESTORATION
Dr. William Mobley of UC San Diego and Dr. Ahmad Salehi of the VA Palo Alto Health Care System identified that LC neurons, which are a principal site for the synthesis of the neurotransmitter norepinephrine with input to the hippocampus, degenerate in mouse models of Down syndrome and Alzheimer’s disease and result in reduction in levels of norepinephrine and associated neurotransmission. The shortage of norepinephrine results in an inability to process sensory and navigational information. By administering two different potential drug compounds that restored norepinephrine levels, contextual learning and memory was also significantly restored. Additional investigation and testing of the two drug compounds and others continues. [10]
MEMORY TRAINING
It has been known for a long while that children with Down's Syndrome have specific impairments in verbal short term memory.Research now indicates that memory training activities may be effective. [11]
DNA TESTING
A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities. [15]
LITHIUM RESTORES COGNITIVE FUNCTION
Researchers report that lithium, a drug commonly used for the treatment of mood disorders in humans, restores neurogenesis in the hippocampus, a part of the brain strongly associated with learning and memory. [16]
EXTRA CHROMOSOME 21 REMOVED FROM DOWN SYNDROME CELL LINE
University of Washington scientists have succeeded in removing the extra copy of chromosome 21 in cell cultures derived from a person with Down syndrome, a condition in which the body's cells contain three copies of chromosome 21 rather than the usual pair. [17]