Dataset Information

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

ABSTRACT: BACKGROUND:Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY:A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments. The meeting focused on developing a consensus among all stakeholders as to how best to achieve a more fundamental and profound understanding of SYNGAP1 biology and its role in human disease. SHORT CONCLUSION:From all of these proceedings, several areas of consensus emerged. The clinicians and geneticists agreed that the prevalence of epilepsy and sensory processing impairments in SYNGAP1-related brain disorders approached 100%. The neurobiologists agreed that more basic research is needed to better understand the molecular and cellular functions of the Syngap1 gene, which will lead to targets for therapeutic intervention. Finally, everyone agreed that there is a pressing need to form a robust patient registry as an initial step toward a prospective natural history study of patients with pathogenic SYNGAP1 variants.

SUBMITTER: Weldon M

PROVIDER: S-EPMC5800089 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

Weldon Monica M Kilinc Murat M Lloyd Holder J J Rumbaugh Gavin G

Journal of neurodevelopmental disorders 20180205 1

<h4>Background</h4>Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities.<h4>Main body</h4>A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this ...[more]

PMID: 29402231

Similar Datasets

Project description:ObjectivesDue to the coronavirus disease 2019 (Covid-19) pandemic, all scientific conferences in the year 2020 had to be adapted in their form of presence to accommodate for safety regulations, postponed, or canceled entirely. As organizers of the annual Computer Assisted Radiology & Surgery International Conference & Exhibition (CARS)-Conference 2020, we decided to hold a "hybrid" conference, i.e., a virtual conference with partial presence to mitigate the drawbacks of a purely virtual conference. It is the purpose of this paper to describe the results and experience gained by our first hybrid conference.MethodsBesides technical necessities like an online conferencing tool, we introduced additional personal namely the technical chairs and communication officers ensuring a smooth flow of presentations. To measure the success of the hybrid conference, we assessed various parameters during the conference (e.g., counting of adverse events, delays, and no-shows) and sent a questionnaire to participants for evaluation after the conference.ResultsWe offered four types of presentation formats, whereas the majority of speakers presented their pre-produced videos including live discussions. Significant delays in sessions occurred during the morning sessions, which could be reduced during lunch breaks. The analysis of the influence of the distribution of the audience's location/time zone toward the attendance rate showed a high relevance for the American zone and only little influence for the Asian-Pacific region. Based on the questionnaire, 60% of responders considered the hybrid approach as superior and 12% as inferior to purely virtual conferences.ConclusionsMost scientific associations in 2020 had to struggle with a dramatic change: Regular, traditional meetings with personal communication and exchange, networking, and creation of new visions became obsolete almost instantly. As an alternative, virtual conferences became increasingly popular, and are offering additional advantages (e.g., reduction of cost for travel, lodging, and time on transit). To overcome the drawbacks of purely virtual conferences, we introduced a hybrid concept for the CARS-Congress. While certainly, those with the privilege to take part personally on-site did benefit most from the hybrid format. Facing upcoming waves of the Covid-19 Pandemic, with ongoing changes to the regulations on meetings and transit, hybrid conferences are a viable option for scientific conferences for the future.

Dataset Information

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

Publications

The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets