by Malwina Filipczuk
7 June 2024
The third day of the Trisomy 21 Research Society International Conference was full of inspiring talks. Here is a summary of what some of the speakers presented today:
Understanding Alzheimer’s Disease in Down Syndrome Using Omics Approaches
Professor Mark Mapstone talked about how changes in lipids (fats) and cellular energy can lead to Alzheimer’s disease in people who have Down’s syndrome. His study found that these changes might be treated or prevented with lifestyle changes during the early stages of the disease.
Genetic and Sporadic Forms of Alzheimer’s Disease
Professor Vivek Swarup explained how Alzheimer’s disease can be studied using different methods like models, biology, and computer analysis. By collecting lots of data, researchers can understand gene activity (how genes work), track disease progression, and find markers for Alzheimer’s. Professor Swarup also discussed the importance of Nectin signalling (a way cells communicate) and Amyloid response in Alzheimer’s.
CNS Inflammation in Adults with Down Syndrome
Dr Olivia Belbin discussed how inflammation in the central nervous system (CNS, which includes the brain and spinal cord) of adults who have Down’s syndrome is linked to Alzheimer’s disease. This is important because Alzheimer’s is the leading cause of death in adults who have Down’s syndrome. Studying this inflammation can help us understand how the disease starts and progresses.
Apolipoprotein E in Alzheimer’s Disease and Down Syndrome
Dr Cliona Farrell talked about Apolipoprotein E, a protein that helps transport lipids and cholesterol in the brain. It plays a role in brain health, immune response, and blood flow in the brain. Dr Farrell compared its levels in people who have Down’s syndrome and those with early-onset Alzheimer’s disease.
Interferonopathy of Down Syndrome
Professor Kelly Sullivan spoke about interferon, a protein involved in the immune system’s response to viruses. In people who have Down’s syndrome, cells are extra sensitive to interferon, which can cause autoimmune problems (when the immune system attacks the body) and other conditions.
We also heard interesting talks on genomic and epigenetic mechanisms, therapeutic approaches and diagnosis:
Bumetanide for Cognitive Improvement in Children and Adolescents who have Down’s Syndrome
Dr Floriana Costanzo presented a study on Bumetanide, a drug that might help improve thinking and behaviour in children and adolescents who have Down’s syndrome.
Early Detection and Treatment of Obstructive Sleep Apnoea in Infants who have Down’s Syndrome
Dr Clotilde Mircher shared findings on sleep apnea (a condition where breathing stops and starts during sleep) in infants with Down’s syndrome. Her study found that 97.4% of infants had sleep apnea at 6 months old, with more than half of the cases being moderate or severe. Screening infants at 6 months could help address this issue early.
We are excited for the last day of the conference and the closing ceremony tomorrow!
You can catch up the rest of our conference reports here:
If you are interested in hearing more about our research, resources for healthy brain aging for people with Down’s Syndrome, or participating in one of our studies, please email our research team at: ciddrg@medschl.cam.ac.uk