What is SYNGAP1 and why does it matter?
SYNGAP1 is a rare genetic disorder caused by a variant or ‘mutation’ on the SYNGAP1 gene.
The SYNGAP1 gene has a role in producing SynGAP protein, which regulates synapses (connections between brain cells, through which they communicate with each other).
A change in this gene leads to not enough SynGAP protein being made, which results in an increase in excitability in the synapses making it harder for neurons to communicate properly. This causes many neurological issues experienced by individuals with SynGAP1. Symptoms of SYNGAP1 can include epilepsy, sensory processing disorder, intellectual disability and sleep disorder. There is a spectrum of severity and not all symptoms listed here are experienced by all who are diagnosed.
SYNGAP1 mutations are surprisingly common (1 per 16,000 individuals), and it is one of the most common genetic causes of intellectual disability (ID).
SIDB Research being done on Syngap
Many of our SIDB researchers are working on this gene. One example of this, is the Gonzalez-Sulser lab who work on electroencephalography (EEG) biomarkers in SYNGAP rodent models. An electroencephalogram is a recording of brain activity, where small sensors are placed on the scalp to pick up the brain’s electrical signals, and can be used to help diagnose conditions such as epilepsy and sleep disorders. Biomarkers are potentially useful to quantitatively track how well a therapy may be improving a patient’s brain health.
They recently published a paper showing that connectivity measures in EEG are good for identification of haploinsufficient (one Syngap gene is working OK; the other gene is mutated) rodents (paper below). Dr Gonzalez-Sulser spoke at the Syngap Research Fund earlier this year on using machine learning on EEG as a biomarker of SYNGAP1 haploinsufficiency, and you can watch his talk here.
Read the lab’s full paper here.
The CARID (Clinically Applied Research in Intellectual Disabilities) lab have published several papers this year defining behaviour profiles in people with SYNGAP1-related intellectual disability, showing high rates of autism and ADHD traits, as well as demonstrating differences in how people with SYNGAP1 process social stimuli. You can read these papers here.
Splash for Syngap
Almost all Syngap children love water, so this year’s theme for Syngap awareness day is centred around this. The Patrick Wild Centre/SIDB team plus family and friends had a (chilly!) splash in the local reservoir this week, to raise awareness for this condition.
