Learn about SYNGAP1-related disorders

SYNGAP1-related non-syndromic disorder (SYNGAP1-Related Disorder) is a rare genetic condition where patients have developmental delay and often suffer from severe epilepsy, intellectual disability, autism, ataxia, apraxia, and sleep disorders for their duration of their lives.

De novo mutations in a single copy of the human SYNGAP1 gene cause SYNGAP1-Related Disorder. The SYNGAP1 gene encodes the information needed by neurons to produce the SynGAP1 protein. In the brain, the SynGAP1 protein functions as a key player for normal brain development and neuron-to-neuron communication. In people with SYNGAP1-Related Disorder, the mutations in SYNGAP1 lower the overall amount of SynGAP1 that can be produced. In turn, this limits the availability of SynGAP1 to carry out its important functions in brain development and cellular communication.

It’s thought that 1 in every 16,000 people have SYNGAP1-Related Disorder, representing ~1-2% of all non-syndromic intellectual disability cases. There is no known cure and no effective treatments to help those afflicted with this rare disorder.

Nospharma is a clinical-stage therapeutics company developing innovative treatments for rare neurological disorders. Our goal is to improve the lives of people living with rare neurological disorders. By using a multi-therapeutic approach for a given disorder, with each targeting a unique biological cause of the condition, we are making medicines with enhanced effectiveness.

References

• https://www.syngapresearchfund.org/home/what-is-syngap1

• https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed

• https://academic.oup.com/brain/article/143/4/1046/5823474