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Common - SCN2A is one of most common determinants of neurological disease - with relations to broader diseases such as diabetes, schizophrenia, autism spectrum disorder, and various epilepsies (Dravet & Lennox Gastaut)
Established Networks - SCN2A is one of the most broadly researched rare diseases with biomarkers, natural history studies, and engaged networks of patients, scientists, and clinicians.
A current Clinical Trial is open to US residents for Gain of Function SCN2A. Praxis is developing an antisense oligonucleotide (ASO) for the treatment of early-onset SCN2A Developmental and Epileptic Encephalopathy (DEE), currently referred to as PRAX-222. An ASO is a synthetic, short segment of genetic sequence that can be designed to selectively modulate a target gene expression to help restore its normal function.
Discover the latest advancements in the field of autism genetics and connect with individuals who have gained insights into the genetic variations associated with their autism.
Simons Searchlight is an ambitious research program that is creating an ever-growing database and resource network. Families like yours are the key to making meaningful progress
SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility.
SFARI Gene is an evolving database for the autism research community that is centered on genes implicated in autism susceptibility.
PubMed® comprises more than 35 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites.
ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation
GeneCards is a searchable, integrative database that provides comprehensive, user-friendly information on all annotated and predicted human genes. The knowledgebase automatically integrates gene-centric data from ~150 web sources, including genomic, transcriptomic, proteomic, genetic, clinical and functional information.
The Jackson Lab’s mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health.
The Human Protein Atlas is a Swedish-based program initiated in 2003 with the aim to map all the human proteins in cells, tissues, and organs using an integration of various omics technologies, including antibody-based imaging, mass spectrometry-based proteomics, transcriptomics, and systems biology.
There has been considerable efforts over the last several years to broadly understand the mechanisms of SCN2A - with the primary focus of treatment related research towards the Benign familial neonatal-infantile seizures and the Early infantile epileptic encephalopathy - both concerning the most severely impacted, seizure related disorders.
This focus has amazingly brought forth a therapeutic pipeline for this audience.
Our current focus is targeting the autistic, and autistic + epileptic related audiences to further advance these therapies, as we feel they've been underserved.
Additionally, we plan to work collaboratively with all audiences to unite the SCN2A data across silos to accelerate therapeutic development, in an open, and transparent manner - with this being one of the main challenges that our disease faces at this current time.
