SYNGAP1 España Donates €7,500 to Advance Research on This Rare Disease

The SYNGAP1 España Association has donated €7,500 to the Sant Pau Research Institute (IR Sant Pau) to support the research conducted by the Molecular Physiology of the Synapse Research Group on the neurodevelopmental disorder caused by the SYNGAP1 gene.

The funds will support the group’s research line aimed at understanding the molecular and cellular mechanisms that link alterations in this gene to the different clinical manifestations of this genetic condition. The team, led by Dr. Àlex Bayés, studies how these variants affect synaptic function—the communication points between neurons—which factors may influence the different clinical courses experienced by patients, and which processes could become future therapeutic targets.

“This contribution allows us to explore in greater depth how alterations in SYNGAP1 impact synaptic function and to better understand why the condition can manifest differently in each case. This knowledge is essential for identifying processes that could become future therapeutic targets,” explains Dr. Àlex Bayés.

A Rare Genetic Disorder

SYNGAP1-related disorder is a rare genetic neurodevelopmental condition caused by variants that alter the function of the gene of the same name. This gene contains the instructions needed to produce the SynGAP protein, which plays a fundamental role in brain development and function, particularly in regulating the connections between neurons, known as synapses.

Although the disorder has a genetic origin, in the vast majority of cases it is not inherited. The variant arises de novo, meaning that it appears for the first time during the formation of the egg or sperm cell, or during the earliest stages of embryonic development, and therefore was not transmitted by either parent. As a result, affected individuals are usually the first members of their family to have the disorder, with no previous family history.

Alterations in SYNGAP1 can reduce the amount of available SynGAP protein or prevent it from functioning properly. This impacts the maturation, plasticity, and function of synapses and interferes with the way neurons communicate and organize their connections during brain development.

The main manifestations of the disorder are epilepsy, intellectual disability, and autism-related traits. The severity and combination of these manifestations can vary considerably among patients, meaning that the clinical course and support needs differ from person to person.

Families’ Commitment to Research

SYNGAP1 España is an association made up of families of affected individuals that works to raise awareness of the disorder, provide information and guidance, improve patients’ quality of life, and promote scientific research.

“The involvement of patient associations is essential in research on rare diseases. In addition to providing resources, it helps us ensure that scientific work remains connected to the real needs of affected individuals and their families,” Dr. Bayés emphasizes.

Through this donation, the association strengthens its collaboration with the scientific community, particularly with IR Sant Pau, and reaffirms its commitment to advancing knowledge of SYNGAP1 deficiency.