SLC6A1 Portal: Genetic Variant Analysis and Educational Resource for SLC6A1-Related Disorders
Abstract number :
2.313
Submission category :
12. Genetics / 12A. Human Studies
Year :
2021
Submission ID :
1826222
Source :
www.aesnet.org
Presentation date :
12/5/2021 12:00:00 PM
Published date :
Nov 22, 2021, 06:53 AM
Authors :
Arthur Stefanski, BA - Genomic Medicine Institute & Epilepsy Center; Eduardo Pérez-Palma - Universidad del Desarrollo; Chiara Klöckner - University of Leipzig Medical Center; Tobias Bruenger - Cologne Center for Genomics (CCG); Marie Macnee - Cologne Center for Genomics (CCG); Patrick May - Luxembourg Centre for Systems Biomedicine; Johannes Lemke - University of Leipzig Medical Center; Kimberly Goodspeed - Children's Health, Medical Center, UT Southwestern; Jing-Qiong Kang - Department of NeurologyVanderbilt University Medical Center; Katrine Johannesen - The Danish Epilepsy Centre; Rikke Møller - The Danish Epilepsy Centre; Amber Freed - Children's Hospital of Philadelphia; Dennis Lal - Genomic Medicine Institute & Epilepsy Center
Rationale: Genetic variants in the SLC6A1 gene, encoding the GABA transporter protein type 1 (GAT1), are among the most frequent causes of complex neurodevelopmental disorders, featuring epilepsy, autism spectrum disorder, and intellectual disability. Currently, clinical, genetic, and molecular data about the SLC6A1 gene is not connected and distributed across registries, databases, and the literature. To facilitate further research, the translation of research findings into improved patient management and overall awareness, we developed the SLC6A1-Portal: A novel online resource containing a unique expert-curated SLC6A1 dataset alongside user-friendly semi-automated data visualizations. In addition, we incorporated extensive educational resources for families, clinicians, and analytical applications to translate current scientific knowledge aiming to improve the quality of genetic counseling and research opportunities for scientists.
Methods: We gathered clinical, genetic, and molecular data from 150 SLC6A1 disorder patients. We also aggregated data from 22 functionally tested variants. In addition, we produced several short educational videos about SLC6A1-related disorders, genetics, precision medicine, and related subjects. These videos were translated in >10 languages to mobilize underreported individuals worldwide and create a comprehensive resource for families, researchers, and clinicians.
Results: We designed the SLC6A1-Portal for three user scenarios: i) Education: We provide a rich information resource for SLC6A1-related disorders for professionals and the general public. ii) Variant interpretation: Access to expert-level variant interpretation through novel expert-curated web applications that enable variant pathogenicity classification and genotype-phenotype correlation. iii) Research resource: Throughout the SLC6A1-Portal, we provide novel research tools to explore related biomedical data resources. Users will be guided by tutorials with illustrative examples and will not require any programming skills.
Conclusions: The SLC6A1-Portal infrastructure is scalable and, with increasing data, will guide variant interpretation, research, and education for SLC6A1. The SLC6A1-Portal will be hosted at http://slc6a1-portal.broadinstitute.org at the time of the meeting. We are actively looking for collaborators contributing to this project.
Funding: Please list any funding that was received in support of this abstract.: No funding to be declared.
Genetics