Who we are
We are a UK Registered Charity with International Links and a objective to improve the outcome for all people born with Trisomy 21 (T21) which is the cause of Down syndrome (DS), and the most common cause (at birth) of learning disability (mental handicap).
Trisomy 21 happens at conception. About 1 in 400 babies are conceived with three copies of chromosome 21. Read more about T21 in the FAQ section. People with T21 have very full, happy and active lives, but most have some form of intellectual disability and increased rates of congenital and some acquired conditions.
For many years, scientists believed that it was impossible to do anything to treat or intervene medically to lessen the effects of T21 in the person's health and wellbeing. The main reason for this was the fact that there are over 500 genes on chromosome 21. However exciting advances within the last 10 years have linked particular genes and biochemical pathways to the particular problems seen in T21.
*** New Downs Syndrome Research Foundation UK update ***
We are very pleased to announce that we have funded a large-scale study into Down Syndrome biomarkers and possible interventions. Run from Arkansas Children's Hospital and their Research Institute under Co-Principal Investigators:
S. Jill James PhD
Research Professor, Department of Pediatrics
University of Arkansas for Medical Sciences
Kent McKelvey Jr. MD
Associate Professor of Family Medicine and Genetics
at University Arkansas for Medical Sciences
The long-term goal of our research in people with Down syndrome is to identify and address the metabolic, mitochondrial and epigenetic abnormalities that have been linked to reduced energy level, cognitive deficits and preclinical Alzheimer’s dementia in individuals with Down syndrome. No previous study has focused on identification of preclinical biomarkers in order to define targeted treatments to prevent or delay the onset of these debilitating conditions that negatively affect the health and quality of life for many people with Down syndrome and their families. This novel research approach will provide unprecedented new knowledge for the design of treatments to improve cognitive/functional abilities of people with Down syndrome as well as to delay or prevent common medical co-morbidities. Our hypothesis and specific aims are based on strong preliminary evidence and will be accomplished in two phases: