We are thrilled to announce our inaugural community partnership with Syngap Research Fund Australia. Through this partnership, we want to raise awareness of Syngap and help funds for research into a cure.
Syngap holds a special place in our community. Former Port Fairy Consolidated School student, Hannah, was diagnosed with Syngap at age 4. Hannah and her family are a much loved part of our school community and have been big supporters of the event, including volunteering and running - Hannah ran the 3.5km event at Port Fairy in 2023!
What is Syngap?
Syngap1 Syndrome is a rare genetic disorder caused by a mutation on the SYNGAP1 gene. It leads to several neurological issues in Syngap patients.
All humans are made up of about 20,000 different genes. A person has two copies of each gene: one inherited from mum, one from dad. Genes contain the instructions required for healthy development and pass on our inherited characteristics (blue eyes, red hair, blood type O+).
SYNGAP1 is one of those genes and is responsible for production of the protein SynGAP, necessary for proper brain function and development. Patients with a SYNGAP1 disorder have a mutation in one of the copies of their SYNGAP1 gene that causes an insufficiency of the SynGAP protein.
Patients with a SYNGAP1 disorder only have one working copy of the SYNGAP1 gene, so they are only capable of creating about 50% of the critical SynGAP protein. This deficiency causes the symptoms that we see in our children: intellectual disability, drug-resistant epilepsy, autism, hypotonia (muscle weakness), very limited speech (mostly non-verbal), and severe behaviors (impulsivity & aggression).