Get to Know Bridge the Gap - SYNGAP Education and Research Foundation

About SYNGAP1 - Non-Syndromic Intellectual Disability (NSID)

SYNGAP1 was initially discovered in 2009 and has become a prominent gene associated with intellectual disability, autism, and generalized epilepsy. Since initially described, an increasing number of children with SYNGAP1-related NSID have been identified, suggesting that it may represent one of the most common causes of ID. 1 - 4/ 10,000 individuals with Intellectual Disability have a SYNGAP1 mutation. In addition to mild-to-moderate intellectual disability, this condition commonly features other neurological problems, including recurrent seizures (epilepsy)and autism spectrum disorder, affecting communication and social interaction. Gene mutations involved in SYNGAP1-related intellectual disability prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity in cells. Studies show that a reduction of SynGAP activity can have multiple effects in nerve cells, including pushing synapses to develop (mature) too early. The changes triggered by a reduction of SynGAP activity disrupt the synaptic adaptations in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems characteristic of SYNGAP1-related intellectual disability. SYNGAP1 is one of the top mono-genetic genes linked to Autism and one of the top 10 gene proteins linked to schizophrenia.

SYNGAP1 Clinical Features

Intellectual disability (ID) is a common disorder defined by significant limitations in both cognitive and adaptive behaviors with onset before the age of 18. ID is subdivided into syndromic intellectual disability, in which intellectual deficits and distinguishing morphologic, radiologic, or metabolic features are present, and non-syndromic intellectual disability (NSID), in which intellectual deficits appear without these physical abnormalities. Mutations in the SYNGAP1 gene are thought to be a relatively common cause of NSID. NSID patients, including those associated with SYNGAP1 mutation, typically exhibit moderate to severe ID with varying degrees of epilepsy and/or autism spectrum disorders (ASD) and may also have attention deficits, impulsivity, and/or mood disorders. SYNGAP1-related NSID patients with epilepsy usually respond well to medications, yet some are refractory (difficult to control even with multiple drugs). SYNGAP1-related NSID is a sporadic condition that is caused by de novo (spontaneous, non-inherited)mutations. The use of genomic sequencing has dramatically increased the capacity of physicians to identify these gene variants and mutations.

Get to Know Bridge the Gap - SYNGAP Education and Research Foundation

We are the leading SYNGAP1 patient advocacy organization worldwide dedicated to improving the lives of children, adults, and families affected by SYNGAP1.

VISION From the start, we envisioned a comprehensive mission and business strategy that encompassed multiple program goals. This included a plan to raise public awareness and provide resource information about the disorder to SYNGAP1 families, physicians, researchers, academic institutions, the rare disease community, industry, local and federal government/agency officials.

MISSION While our programs and initiatives have expanded globally since 2014, our mission to provide SYNGAP1 awareness, advocacy, education, and research support, has remained focused and consistent. Our organization's commitment to those affected by SYNGAP1, their families and caregivers, remains at the forefront of all we do. Our mission wholeheartedly embraces a collaborative approach to help accelerate research and improved outcomes.

BUILDING STRONG RELATIONSHIPS & COLLABORATIONS Since its inception in September of 2014, the organization has grown rapidly because of the volunteer board of trustees and parents' tireless efforts. BTG's first step was to seek out other SYNGAP1 families. Building relationships, gaining valuable input regarding shared goals helped shape our program priorities. Concurrently, we began engaging with SYNGAP1 clinicians and researchers to build diverse collaborations within the SYNGAP1 community.

ADVOCACY, AWARENESS, EDUCATION & RESEARCH From there, we expanded our collaborations to include other rare disease patient advocacy groups with similar interests and goals. The relationships and collaborations we initially fostered have helped us build a solid organizational foundation, from which our programs and initiatives continue to grow and flourish.

I am especially proud of ...

SYNGAP1 - FROM DIAGNOSIS TO TAKING ACTION Discovering a lack of SYNGAP1 information and resources, Monica became determined to make a difference. In 2014, Monica Weldon became the Founder, President, and Chief Executive Officer of Bridge the Gap – Syngap Education and Research Foundation (BTG). The foundation was established by Monica and a small group of families with children who were also affected by SYNGAP1. This was one of the first organizations established in the world based on a single-gene mutation and not a named disease. Our focus is not just on the disorder alone, but how the protein functions and encompasses the overlapping in other related neurological disorders. Our strategy and business model is unique and unlike any other neuroscience, organizations established today. We have had many firsts, the first International SYNGAP1 Conference. We steward the largest SYNGAP1 (MRD5) Registry and Natural History Study, that has provided the data to find the Sensory Processing Mechanism in SYNGAP1, the data helped identify the first biomarker for SYNGAP1 and has helped provide preliminary data to support over $35M dollars in grants for SYNGAP1 research since 2014.

Excited to REN because...

Bridge the Gap - SYNGAP Education and Research Foundation has been a member of REN since it's beginning. Our mission and strategy aligns with the mission of REN that will help move forward the strategy we have to not only help our own population, but learning and understanding our connection to other rare epilepsies.

My journey and motivation...

I noticed early on that my son Beckett was not meeting his developmental milestones. As an experienced Mom of 3 older children and now twins Pyper and Beckett, I observed noticeable differences in their development and emerging abilities. My son Beckett was the 6th patient in the world identified with an SYNGAP1 mutation. Concerned about Beckett's developmental delays, I began searching to gain answers and find help for her son. I established the first research organization in the world for SYNGAP1 research and now the parent organization of other organizations around the world.

By Monica Weldon, President/CEO/Founder