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.


T21RS logo


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


Transcranial Photobiomodulation With Near-Infrared Light for Language in Individuals With Down Syndrome (TransPhoM-DS) – Ongoing

This study run by Dr. Paolo Cassano (Massachusetts General Hospital and assistant professor of psychiatry at Harvard Medical School) will compare the effect of Photobiomodulation therapy (tPBM) to sham tPBM on gamma neural oscillations in the brain as assessed by EEG, and on language, attention and memory as assessed by neuropsychological testing. Participants will be randomized to either tPBM with near-infrared light (tPBM-NIR) or tPBM-Sham and will undergo 18 treatments (3 treatments per week for 6 weeks) in addition to baseline, short-term and long- term follow up visits.

Participants will be recruited by the prestigious Massachusetts General Hospital Down Syndrome Program run by Dr.Brian Skotko, who is a co-investigator on the study.
To learn more about Photobiomodulation and the promise it holds for neurological conditions and more you can watch an interview on PBM here or read academic papers on PBM or article on PBM.


Systematic review of treatment modalities for obstructive sleep apnoea in children with Down’s syndrome, Prof Cathy Hill, Dr Rina Cianfaglione, Faculty of Medicine University of Southampton

This piece of work forms part of on-going research led by Dr. Cathy Hill and her team at the University Hospital Southampton. Our funding of the Systematic Review will allow Dr. Hill and her team to make further improvements. A Systematic Review of Research is a ‘deep dive’ into all published and unpublished research looking to answer a specific question.  The scope of the search has been obstructive sleep apnoea treatments in children with Down syndrome, how best to diagnose it and what impact it has on children’s sleep and developing brains.  Dr Rina Cianfaglione, research fellow to Dr Hill, will scrutinise the papers and systematically review the research that we have to date on OSA treatments in children with DS. Read more about this work here.


World Down Syndrome Congress and Pre Congress Health Symposium, Glasgow

In July 2018 the Foundation attended and contributed to the World DS Congress in Glasgow Scotland. Our chair was also presenting in two discussion panels: “Supporting Tomorrows Parents in the Prenatal Period” and the “WDSC Research Symposium”.   Dr Corcoran was the only presenter discussing research with a focus on speaking to possible participants i.e. adults with DS themselves using the popular easy-to-read format.

Dr Corcoran also presented three posters with Dr Viba Pavan Kumar: “Views of Parents of Children with Down’s Syndrome on Prenatal Screening and Diagnostic Disclosure”, “Co-morbidities in Down’s Syndrome: Prevalence and Access to Information” and “An Online Survey Exploring Views on the Introduction of NIPT for Prenatal Screening”.


A Review Of Local Guidance For The Routine Health Surveillance Of Children With Down Syndrome, Across The UK, And Comparison With National Guidelines. Dr McKenna, UCL Great Ormond St. Institute of Child Health

By obtaining and reviewing local guidance, from paediatric departments across the UK, on the routine health surveillance of children with DS, we aim to answer the questions:

  1. What are the similarities and differences between local guidance for the routine health surveillance of children with DS?
  2. How does local guidance comply or differ from existing national guidance for the routine health surveillance of children with DS?
  • Research aims;
  1. To determine current practice for routine health surveillance of children with DS across the UK, and to compare this with national guidance.

We hypothesis that local guidance will vary and that there will be inconsistent compliance with national guidance.


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.


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.


Trisomy 21 Research Seminar

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

University of Malta, Valletta Campus, Malta


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


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).

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.