by Zhiyuan Song
8 June 2024
Hello everyone!
Today marks the last day of the 5th Trisomy 21 Research Society International Conference.
This conference in Rome has been an incredible experience, filled with inspiring talks and innovative research ideas.
One highlight of the day was the presentation of research authored by Jessica, Malwina, Ellie, and Sarah on the longitudinal retinal thickness in adults who have Down syndrome. Their work was featured in the symposium session focused on neurodegeneration and aging.
Malwina delivered an excellent presentation to scholars from around the world and answered questions about our research.
This research established the first longitudinal dataset of retinal thickness in the Down syndrome cohort, providing preliminary evidence to suggest that the retina may thin over time in this population, in a similar pattern to that observed in Alzheimer’s disease patients without Down syndrome. This provides direction for further studies in this area and will be useful for the design of ophthalmological screening and related public health strategies.
There were many other interesting talks today, covering a range of topics from immunomodulatory therapies in Down syndrome to understanding the progeroid biology of Down syndrome. Here is a summary of the speakers’ presentations today:
The role of sleep dysfunction and the hypothalamus in Down’s syndrome Alzheimer’s disease – Dr Stephanie Brown, University of Cambridge
Dr Brown introduced that individuals who have Down’s syndrome are prone to a variety of sleep problems and poor sleep in earlier life could increase the risk for dementia by 30%. Findings are suggestive of a role for orexin in development and severity of dementia. The role of sleep in the development of dementia us emerging as an important modifiable risk factor. Dr Brown’s research finds that an anterior nucleus-specific atrophy in Alzheimer’s disease which is disproportionate to whole brain grey matter loss is supportive of the region having an accelerated decline which may be lined to sleep as a risk factor or sleep-related dementia symptomatology, as it is known to contain the suprachiasmatic nucleus.
How does pregnancy with a Down syndrome fetus affect maternal AD-related cognitive decline – Dr Eitan Okun, The Gonda multidisciplinary brain research center
Dr Okun suggested that in pregnancies with a Down syndrome fetus, fetomaternal transfer of cells expressing human Amyloid precursor protein (hAPP) and its neurotoxic derivatives to the maternal brain contributes to the elevated risk of maternal late-onset Alzheimer’s disease. Fetal cells remain for prolonged periods of time in maternal tissues, and proteomic landscape of the maternal brain changes are observed as a result of this transfer. This result implies that mothers who carries Down syndrome fetuses could benefit from anti APP interventions.
The effects of exercise on peripheral blood flow regulation in adults with Down syndrome – Dr Thessa Hilgenkamp, University of Nevada
In Dr Hilgenkamp’s presentation, she introduced that the low aerobic capacity due to autonomic dysfunction of adults with Down syndrome could lead to alterations in systemic regulation of resting and maximal heart rate and blood pressure. To investigate the adaptations in peripheral blood flow regulation in response to lower body negative pressure (LBNP) and hand grip exercise (HGE). Dr Hilgenkamp’s group compared the blood flow and shear rate at baseline and during LBNP and HGE in individuals with and without Down syndrome, and analyzed with statistical models. The results suggest that adults with Down syndrome show a blunted peripheral blood flow regulation in response to 30% hand grip exercise and LBNP compared to participants without DS, indicating a blunted sympathetic control of blood flow.
The 5th Trisomy 21 Research Society International Conference has been an incredible experience, providing us with the opportunity to learn and exchange ideas with researchers from around the world.
We are immensely grateful for the support of the Down’s Syndrome Association, which made this unique in-person meeting possible. This conference allowed us to discuss the latest advancements and future directions in Down syndrome research and applications. We remain dedicated to improving the quality of life for people with Down syndrome and will continue our efforts in this important field.
If you are interested in hearing more about our research, resources for healthy brain ageing for people with Down’s Syndrome, or participating in one of our studies, please email our research team at: ciddrg@medschl.cam.ac.uk
You can catch up the rest of our conference reports here: