Founded in 1996, the Foundation has worked with researchers and clinicians to inspire them to help improve the quality of life of those with Down’s syndrome.

We began with a single-minded vision to promote research into Down’s syndrome related issues and improve the future of our community. We want to support you in your work to make this a reality. To learn more about how we can support your work, get in touch with DSRF.

 

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We are proud members of the Trisomy 21 Research Society, the first non-profit scientific organization of researchers studying Down syndrome, founded to promote basic and translational research on Down syndrome and to apply new scientific knowledge to develop improved treatments and cures.

 

We are also a member of Neurological Alliance, the only collective voice for 80 organisations working together to make life better for millions of people in England with a neurological condition.

Here are some of the activities we have supported, organised or funded below.

Studies, Publications and Conferences

2001 – ongoing

Publication: Bright Beginnings Booklet New Parents Guide

Bright Beginnings is primarily for new parents who have just been told their baby has Down’s syndrome. However, experienced parents and medical professionals have benefited as well. We have published the third edition, with additional information on healthcare in the United Kingdom and hopes in the near future to publish a fourth.

2006

DSRF Down Syndrome Medical Conference

Institute of Child Health, University College London

This groundbreaking conference was the first of its kind in the UK with a day for parents and a day for doctors and researchers. Footage available free online.

Nutritional Intervention for Children with Down’s Syndrome Clinic

IBCHN, The Science Centre, London Metropolitan University

Team: Prof Michael A Crawford (IBCHN), Prof Keb Ghebremeskel (IBCHN), Nina Brierley (IBCHN), Marita Neville (IBCHN), Dr Allain A Bueno (IBCHN)

Aim: A nutritional study looking at the intake and effect of omega 3 and omega 6 fatty acids in children with Down’s syndrome took place at the Institute of Brain Chemistry and Human Nutrition in London. Lead by fatty acid world expert Prof Crawford (now of Imperial College).

2008

Publication: Erythrocyte phospholipid molecular species and fatty acids of Down syndrome children compared with non-affected siblings. Bueno AA et al. Br J Nutr. 2014 Nov 24:1-10 PMID: 25418850.

Abstract The majority of children with Down syndrome (DS) develop Alzheimer’s disease (AD) at an early age. Although long-chain n-3 fatty acids (FA) are protective of neurodegeneration, little is known about the FA status in DS. In the present study, we aimed to investigate whether children with DS presented altered plasma and erythrocyte membrane phospholipids (PL) FA composition, when compared with their nonaffected siblings. Venous blood samples were analysed for plasma and erythrocyte membrane FA composition by TLC followed by GC techniques. Lipid molecular species were determined by electrospray ionisation/tandem MS (ESI-MS/MS). FA analysis measured by standard GC showed an increased concentration of MUFA and a decreased concentration of plasmalogens in major PL fractions, but there were no differences in the concentrations of arachidonic acid or DHA. However, as identified by ESI-MS/MS, children with DS had increased levels of the following erythrocyte PL molecular species: 16 : 0–16 : 0, 16 : 0–18 : 1 and 16 : 0–18 : 2n-6, with reduced levels of 16 : 0–20 : 4n-6 species. Children with DS presented significantly higher levels of MUFA in both plasma and erythrocyte membrane, as well as higher levels of saturated and monounsaturated molecular species. Of interest was the almost double proportion of 16 : 0–18 : 2n-6 and nearly half the proportion of 16 : 0–20 : 4n-6 of choline phosphoacylglycerol species in children with DS compared with their non-affected siblings. These significant differences were only revealed by ESI-MS/MS and were not observed in the GC analysis. Further investigations are needed to explore molecular mechanisms and to test the association between the pathophysiology of DS and the risk of AD.

Randomised Trial of Supplementation with Antioxidants & Folinic Acid for Children with Down Syndrome

The initial review of research (funded by the DSRF UK) meant to the Institute of Child Health was able to initiate the biggest Down’s syndrome research project in history. 156 babies took part research project that took over 5 years from start to finish at a cost of over $1 million. Funded by Down’s Syndrome Association, Fondation Jérôme Lejeune, Down Syndrome Research Foundation, and Szeben Peto Foundation.

Publication: Supplementation with antioxidants and folinic acid for children with Down’s syndrome: randomised controlled trial Jill Ellis et al BMJ 2008;336:594

2013

Trisomy 21 Research Seminar

Covering research advances in Downs syndrome: Epigenetics, metabolism and research collaborations

University of Malta, Valletta Campus, Malta

2015

Publication: Trans effects of chromosome aneuploidies on DNA methylation patterns in human Down syndrome and mouse models – M Mendioroz, B Tykco et al Genome Biology 201516:263

We supported this work by adding funding for epigenetic arrays for improved statistical power.

Abstract

Background: Trisomy 21 causes Down syndrome (DS), but the mechanisms by which the extra chromosome leads to deficient intellectual and immune function are not well understood.

Results: Here, we profile CpG methylation in DS and control cerebral and cerebellar cortex of adults and cerebrum of fetuses. We purify neuronal and non-neuronal nuclei and T lymphocytes and find biologically relevant genes with DS-specific methylation (DS-DM) in each of these cell types. Some genes show brain-specific DS-DM, while others show stronger DS-DM in T cells. Both 5-methyl-cytosine and 5-hydroxy-methyl-cytosine contribute to the DS-DM. Thirty percent of genes with DS-DM in adult brain cells also show DS-DM in fetal brains, indicating early onset of these epigenetic changes, and we find early maturation of methylation patterns in DS brain and lymphocytes. Some, but not all, of the DS-DM genes show differential expression. DS-DM preferentially affected CpGs in or near specific transcription factor binding sites (TFBSs), implicating a mechanism involving altered TFBS occupancy. Methyl-seq of brain DNA from mouse models with sub-chromosomal duplications mimicking DS reveals partial but significant overlaps with human DS-DM and shows that multiple chromosome 21 genes contribute to the downstream epigenetic effects.

Conclusions: These data point to novel biological mechanisms in DS and have general implications for trans effects of chromosomal duplications and aneuploidies on epigenetic patterning.