Syngap Research Fund Australia

This event is run entirely by volunteers and all funds raised are reinvested into the local community. Your participation already supports our local community and our charity partner Syngap Research Fund Australia. However, if you would like to make an additional donation to Syngap, it would be gratefully welcomed. 

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 has competed in our event every year!

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).

Want to know more? Visit https://www.syngapaustralia.org/