Rare Disease Report

Rare Disease Report Strategic Alliance Partner Publishes Syngap-1 Paper

MARCH 07, 2018
Mathew Shanley
Monica Weldon, CEO, President and Founder of Bridge the Gap: SYNGAP Education and Research Foundation – one of Rare Disease Report’s Strategic Alliance Partners (SAP) – has made her debut as the lead author on a scientific paper.

Weldon and her team of researchers – Muray Kilinic and Gavin Rumbaugh of the Graduate School of Chemical and Biological Sciences at The Scripps Research Institute; and J. Lloyd Holder Jr. of the Jan and Dan Duncan Neurological Research Institute and Department of Pediatrics, Division of Neurology and Developmental Neuroscience at the Baylor College of Medicine – teamed up to organize an inaugural meeting and write a scientific paper to cultivate a consensus among clinicians and scientists in the Syngap1 community.

The reasoning behind both the meeting and the corresponding paper was to discover ways to best to achieve a more fundamental and profound understanding of disease biology.

The paper, titled “The first international conference on Syngap1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators,” concluded that – at the inaugural meeting –the prevalence of epilepsy and sensory processing impairments in SYNGAP1-related brain disorders were confirmed.

Pathologic mutations in Syngap1 result in intellectual disability (ID), speech delay, hypotonia, and the disease is linked to a spectrum of epilepsies and autism. It was recently discovered that the pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with frequently occurring comorbidities.

The 2-day meeting was held at the Texas Children’s Hospital Pavilion for Women Conference Center in Houston, and all activities were designed to address four priorities/objectives:
  • To bring together internationally recognized basic scientists and clinicians interested in the function of SynGAP protein, the disease substrates underlying the disorder, and the development of novel therapies for rare genetic disorders
  • To further the understanding of Syngap1 in normal brain function and to develop a consensus on the most effective avenues toward novel treatments
  • To expand the SYNGAP1 research and clinical community, including the introduction of junior scientists and clinicians, postdoctoral and clinical fellows, and graduate students to the importance of studying this and related rare diseases
  • To grow the emerging internationalSYNGAP1research and clinical network to foster fully collaborative multi-laboratory basic research, to accelerate a patient registry, and to catalyze a natural history study for the advancement of patient care and treatment
Eight science-related panel sessions were held to address each of the 4 objectives, and in between, meeting attendees were encouraged to network with others from similar professions, as well as individuals affected by Syngap1.

“Without the collaboration of everyone finding ways to work strategically to get to treatments, we would not be moving at the rate we are," said Weldon in an exclusive interview with Rare Disease Report. "My hope is that the business model will help other advocacy organizations in the same way it has helped ours.”

From the clinical perspective, there was a valuable discussion suggesting that the current literature describing clinical manifestations of MRD5 likely underestimates the accurate incidence of epilepsy in the disease. It was established that seizure types are varied across the full spectrum of known patients, and some may be difficult to detect or diagnose.

From the patient advocacy perspective, the meeting emphasized the need to form a robust patient registry as a first step toward a prospective natural history study of Syngap1. In response to this discussion, Weldon and Bridge-the-GAP pledged to re-conceptualize their 5-year strategic plan to stress patient engagement and the growth of the patient registry as quickly as possible.

Post-meeting questionnaires from attendees suggested that all stakeholders were pleased with the substance and results of the meeting. The questionnaires also implied that there was a strong motivation to hold additional Syngap1-focused meetings in the future.

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