SMA Research Platform

Official gene entry — structure, transcripts, expression, orthologs, literature.

Primary therapeutic target and severity modifier. Copy number determines disease severity.

Clinical and genetic description of SMN1 and its role in SMA.

Clinically significant variants with pathogenicity classifications.

Functional genomics. Key SMA datasets: GSE69175, GSE108094, GSE208629.

SMN protein — function, interactions, domains, PTMs, disease annotations.

All cataloged variants in the SMN1 locus with population frequencies.

Rare disease database — epidemiology, diagnosis, management, expert centers.

Hundreds of SMA trials including nusinersen, risdiplam, onasemnogene, next-gen therapies.

European Medicines Agency registry for EU/EEA clinical trials.

Aggregates trials from 17+ national registries worldwide.

Patient-friendly trial info, readiness resources, nearby trial sites.

Global SMA patient registry with natural history data for trial readiness.

Target-disease associations — genetics, expression, pathways, drugs, literature.

Bioactivity data for SMN2-targeting compounds — splicing modifiers, ASOs.

Pharmacology, mechanism, targets, interactions, dosage, regulatory info.

Visual overview of all SMA therapies from basic research to FDA approval.

Molecular pathway map — SMN complex, snRNP biogenesis, motor neuron effects.

Expert-curated pharmacological data — receptor targets, clinical information.

Protein-protein interaction network for core SMA targets with confidence scores.

AI-predicted 3D structure for drug binding and interaction analysis.

Crystal and cryo-EM structures of SMN protein complex components.

Splicing pathway visualization — core process disrupted in SMA.

Tissue/cell expression — IHC, RNA-seq, single-cell across human tissues.

All SMA publications, most recent first. ~15,000+ papers.

Authoritative clinical review — genetics, diagnosis, management, counseling.

Compounds modifying SMN2 exon 7 splicing to increase FL-SMN protein.

AAV-based gene replacement — Zolgensma outcomes, novel capsids, next-gen vectors.

Stathmin-2 as neuroprotective target in motor neuron diseases.

Universal NBS for SMA — implementation, outcomes, presymptomatic treatment.

SMN-dependent + SMN-independent synergistic therapeutic approaches.

Largest SMA advocacy org. Research funding, drug pipeline tracker, annual meeting.

Research-focused. Funded early nusinersen/risdiplam development.

European umbrella org for national SMA groups. Advocacy and treatment access.

International NMD network. Care guidelines, trial readiness, global registries.

Care centers, research grants, support services, educational materials.

Disease overview, current research, NIH-funded SMA programs.

Disease guide, clinical trials, patient assistance programs.

Patient community — real-world treatment experiences, peer support.

Open-source cheminformatics — molecular descriptors, fingerprinting, ADMET.

Deep learning for drug discovery — property prediction, generative models.

Protein language models — structure, function, evolutionary relationships.

Protein homology modeling for docking and interaction studies.

Single-cell RNA-seq analysis — motor neuron subtype identification.

Open REST API — targets, drugs, sources, claims, trials, hypotheses.

Daily SMA news — research, trials, treatment access, patient stories.

Neuromuscular disease community — news, research, patient voices.

Annual awareness campaign for rare diseases including SMA.

This platform — open evidence graph for SMA research.

Official prescribing info — indications, dosage, warnings, clinical data.

First oral SMA therapy — FIREFISH and SUNFISH trial results.

EU regulatory basis, risk-benefit analysis, post-marketing requirements.

Biologics page — safety communications, REMS, post-marketing surveillance.