dna iconResearchers - Overview


Phase 1 will be a case-control cross-sectional study of the baseline metabolic profiles of people with Down syndrome (3 copies of chromosome 21) compared to archived data on age-matched controls (with 2 copies of chromosome 21).
The metabolic data generated in Phase 1 will give us the opportunity to define plasma biomarkers that distinguish people with DS from unaffected controls and to better understand the range of metabolic abnormalities in this cohort.

Phase 2 will follow Phase 1 and will be an intervention trial of selected supplements based on our preliminary evidence from Phase 1 and the extensive literature indicating that individuals with DS exhibit plasma biomarkers of oxidative stress as well as mitochondrial and epigenetic abnormalities. Phase 2 will be designed to optimize these abnormalities with targeted supplements and to determine; 1) whether biomarker improvement can occur with treatment and 2) whether treatment can improve cognition/behavior, and 3) whether biomarker improvement is associated with cognitive/behavioral improvement. We anticipate that successful outcome of Phase 1 and subsequently Phase 2 will lead to individualized intervention strategies to improve future health and delay/prevent onset of dementia in people with DS.

The DSRF (UK) is dedicated to commissioning and funding research that will benefit those with Trisomy 21 (T21) which is the cause of Down's syndrome.  In order for our research to be effective it needs to take on a multidisciplinary and collaborative approach. We need to bring together academics, medical experts and researchers to investigate, examine, and develop treatments for the medical conditions and disabilities that affect people with T21. Our pilot study on ‘Nutritional Interventions in Children with Down’s Syndrome’ has already indicated that there are significant differences in the blood of children with T21 and that of their siblings. We now need to take this forward with a larger research study and an interdisciplinary research approach, bringing together neuroscience, medicine, genetics, pathology, health and nutrition.

The mapping of the human genome means that the genes on chromosome 21 have now been identified. Theoretically, it should now be possible to identify the genes associated with specific medical conditions and disabilities, analyse them, understand the influence they have on the different developmental processes and design treatments aimed at addressing them. This is already opening up exciting new opportunities and avenues for research involving areas like epigenetics, and with the expected growth in the pace of research, we are moving towards finding treatments for many of the conditions that affect children and adults with T21.

For the most current information on this area we highly reccommend viewing the presentations from our 2011 conference on our Youtube channel.

Trisomy 21/Down’s Syndrome is the single greatest cause of mental impairment in the world. More than this, people with Down’s syndrome are at high risk of certain medical conditions and disabilities. For example, they are twenty-fold more likely to develop diabetes, and certain cancers than the non-T21 population.  By the age of 40 most people with T21 show Alzheimer’s like changes in their brain cells.  These same changes mirror the changes seen in people with Alzheimer's (but who do not have T21).  Therefore, by studying T21, we can gain a greatly improved understanding of medical conditions that ultimately, will be of benefit us all.

We undertake to build on the research that has already taken place. We fund and manage research in association with other groups and charities and we share our results and findings. We believe that this approach will ultimately bring huge benefits to people with Down’s Syndrome, their siblings, parents and to carers of those with Down’s Syndrome.

Please support us. Our work is vital and we receive no government funding, we rely totally on voluntary contributions. Your generosity doesn't just make a difference in lives today but also in the future health and wellbeing of those effected by T21.   Please click here to make a donation