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Scientific research: why?

The triplication of the human chromosome 21 (trisomy 21) is the cause of Down syndrome. As a consequence, various genes on chromosome 21 are overexpressed, yielding higher levels of specific proteins which, in turn, lead to typical Down syndrome features, such as:

  • Changed dimensions of the skull and face, including a smaller upturned nose, a more sloping forehead and the obliquely-placed eyes.

  • Learning and memory deficits

  • Dementia due to Alzheimer’s disease


Innate learning and memory deficits

Besides their characteristic appearance, neurological alterations are present too. Most pronounced is the reduced IQ and related learning and memory deficits. Although a lot of variation is observed between Down syndrome individuals, verbal short-term memory and explicit long-term memory are usually impaired.


Scientific aims:

  • Identify overexpressed genes/proteins and study their effect on learning and memory

  • Develop (non-)pharmacological treatments to restore a normal expression level of one or more proteins

  • Study factors that are not directly related to chromsome 21 (genes on other chromosomes, institutionalization, environmental stimulation etc.) on the cognitive performance of Down syndrome individuals


Alzheimer’s disease

Next to these innate deficits, Down syndrome individuals also have a large chance to develop memory problems later in life. Approximately 50-70% of them will develop dementia due to Alzheimer’s disease. This is an extremely high percentage when compared to dementia in the general population: 2.9% (65-74 years of age), 10.9% (75-84 years) and 30.2% in non-Down people of 85 years and older (Alzheimer’s Disease Facts and Figures 2014, Alzheimer’s Association).


Scientific aims:

  • To investigate the underlying mechanisms of Alzheimer’s disease in Down syndrome

  • To study key targets to delay or prevent the onset, slow down the progression or treat Alzheimer’s disease