GO-DS21 will identify and validate new causative mechanisms of comorbidity of obesity and intellectual disability (ID) in Down Syndrome (DS) that could be applicable beyond DS. The project will provide a new paradigm for understanding gene overdosage in comorbidities associated with DS, particularly ID and obesity.
- To determine comorbidity patterns and associated factors seen during the early lifetime (before 45 years) in persons with DS
- To decipher the contribution of environmental factors (such as diet, stress, physical exercise) to DS obesity/ID/anxiety comorbidities
- To investigate the effects of overdosage of three Hsa21 candidate driver genes to explain comorbid patterns in DS
- To identify specific physiological biomarkers and epigenetic signatures derived from human samples and rodent models
- To integrate molecular and clinical data across different spatial and temporal scales of biological complexity using computational biology models and machine learning
- To design new therapeutic interventions including pharmacological compounds, gene therapy and environmental intervention (controlled diet, exercise and reduced stress) to ameliorate the comorbidities
- To devise innovative ways for therapeutic intervention to reduce obesity and related comorbidities to improve the lives of people with DS
What is the expected impact of GO-DS21?
- Novel clinical national and international guidance and innovative therapies
- Better prevention and diagnosis of obesity and ID for people with DS, their families, and caregivers
- Newly identified biomarkers to inform accurate and early diagnosis
- Improved prognosis and enhanced monitoring through clinical and fluid biomarkers
- Increased visibility the field of DS research
- Broader impact beyond DS as causative mechanisms of obesity and cognitive impairment