Fragile X syndrome (FXS) is a rare genetic disorder where affected individuals have neurodevelopmental delay and life-long neurological symptoms like intellectual disability, autistic behaviors, speech and motor disorders, sleep problems, ADHD, and anxiety.

The genetic cause of FXS is the hyper elongation of the CGG trinucleotide sequence of the FMR1 gene located on the X-chromosome. Typically, the FMR1 gene allows neurons to make FMRP, a protein that is essential for normal brain development. In people with FXS, the abnormal length of the CGG repeat causes the FMR1 gene to shut down, resulting in a loss of FMRP production and function.

Today, 1 in every 4,000 males and 1 in every 8,000 females has FXS, making it the leading monogenic cause of autism and responsible for ~50% of all X-linked intellectual disability cases. Yet, there is no cure for FXS, with current interventions only partially improving some symptoms.

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.

GRIN disorder belongs to a large family of rare neurological disorders where patients present with developmental delay, intellectual disability, autism, speech deficiency, inability to walk, gastrointestinal issues, visual impairment, and epilepsy.

GRIN disorder is caused when de novo mutations occur on one of the seven genes that encode for subunits of the ionotropic glutamate receptor, the NMDA receptor. NMDA receptors are made up of two types of proteins: GluN1 proteins, which are encoded by the GRIN1 gene and GluN2 proteins, which are encoded by the GRIN2A, GRIN2B, or GRIN2D genes. When disease causing mutations occur in any of these subunit encoding genes, the function of the entire NMDA receptor is impaired in the brain.

It is predicted that GRIN disorder impacts 1 in every 5,208 people and there are no FDA-approved treatments of GRIN disorders.