Mike Graglia, Co-Founder & Managing Director of the SynGAP Research Fund and rare disease dad, discusses the current landscape of SYNGAP1-related disorders (SRD).
SRDs are a rare genetic developmental and epileptic encephalopathies (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). It is caused by genetic changes in the SYNGAP1 gene. Current management for SRDs focuses on symptom management. This includes medications for treating seizures, behavioral issues, gastrointestinal problems, sleep, etc.
Diagnosis for SRD is challenging due to an uncharacteristic initial onset of symptoms and barriers to genetic testing access. Mr. Graglia accredits a lack of doctors ordering genetic testing at the right time, insurance not covering the tests, and the necessity of properly interpreting results as some of the main causes of this.
The SynGAP Research Fund is a patient advocacy group dedicated to helping SRD patients and families through raising funds for science, providing support for families, and working with industry to get biotech to efficiently make precision therapies for the disorder.
In the last five years, research into small molecules and antisense oligonucleotides for the treatment of SRDs has ramped up. Mr. Graglia explains that a few companies have been developing antisense oligonucleotides that may be ready to be studied in a patient population within the next few years. This has led to a focus of clinical trial readiness in the SRD community.
For more information on SYNGAP1-related disorders and other rare genetic disorders, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/