SMA Research Links

Official gene entry for Survival Motor Neuron 1 — gene structure, transcripts, expression, orthologs, and literature references.

Gene entry for SMN2 — the primary therapeutic target and severity modifier in SMA. Copy number determines disease severity.

Online Mendelian Inheritance in Man — comprehensive clinical and genetic description of SMN1 and its role in SMA.

Clinically significant variants in SMN1 with pathogenicity classifications and supporting evidence.

Repository for functional genomics data. Key SMA datasets: GSE69175 (iPSC motor neurons), GSE108094 (mouse spinal cord), GSE208629 (patient muscle biopsies).

Reviewed entry for human SMN protein — function, interactions, domains, post-translational modifications, and disease annotations.

Single Nucleotide Polymorphism database — all cataloged variants in the SMN1 locus with population frequencies.

European rare disease database — epidemiology, clinical description, diagnosis, management, and expert center network for SMA.

US National Library of Medicine registry. 449+ SMA trials including nusinersen, risdiplam, onasemnogene, and next-generation therapies.

European Medicines Agency registry for clinical trials conducted in the EU/EEA. Includes EudraCT-registered SMA studies.

World Health Organization International Clinical Trials Registry Platform — aggregates trials from 17+ national registries worldwide.

Patient-friendly clinical trial information from Cure SMA, including trial readiness resources and finding nearby trial sites.

International network coordinating neuromuscular disease registries. Global SMA patient registry with natural history data for trial readiness.

Comprehensive target-disease associations for SMA — integrates genetics, expression, pathways, drugs, and literature evidence.

Bioactivity data from medicinal chemistry literature for SMN2-targeting compounds. Includes splicing modifiers and ASOs.

Comprehensive drug entry — pharmacology, mechanism, targets, interactions, dosage, and regulatory information for Spinraza.

Visual overview of all SMA therapies in development — from basic research through FDA approval. Updated quarterly.

Molecular pathway map for Spinal Muscular Atrophy — SMN complex assembly, snRNP biogenesis, and downstream effects on motor neurons.

International Union of Pharmacology — expert-curated pharmacological data including receptor targets and clinical information.

Protein-protein interaction network for core SMA targets. Visualizes known and predicted interactions with confidence scores.

AI-predicted 3D structure of the human SMN protein. Essential for understanding protein-protein interactions and drug binding sites.

Experimentally determined crystal and cryo-EM structures of SMN protein complex components from the Protein Data Bank.

Detailed pathway visualization of pre-mRNA splicing — the core biological process disrupted in SMA due to SMN protein deficiency.

Tissue and cell-type expression data for SMN1 — immunohistochemistry, RNA-seq, single-cell expression across human tissues.

All PubMed-indexed SMA publications sorted by most recent. ~15,000+ papers covering genetics, therapeutics, and clinical outcomes.

Authoritative clinical review — genetics, diagnosis, clinical management, genetic counseling, and molecular pathogenesis of SMA.

Literature on the primary therapeutic strategy — compounds and approaches that modify SMN2 exon 7 splicing to increase full-length SMN protein.

Publications on AAV-based gene replacement therapy for SMA — including Zolgensma outcomes, novel capsids, and next-generation vectors.

Emerging research on stathmin-2 (STMN2) as a neuroprotective target in motor neuron diseases including SMA and ALS.

Research on universal newborn screening for SMA — implementation, outcomes, and impact on presymptomatic treatment initiation.

Growing field exploring synergistic combinations — SMN-dependent + SMN-independent approaches for improved therapeutic outcomes.

Largest SMA patient advocacy organization. Funds research, maintains drug pipeline tracker, and coordinates the annual SMA Research & Clinical Care Meeting.

Research-focused foundation driving translational science. Funded early nusinersen and risdiplam development. Invests in next-generation therapies.

European umbrella organization for national SMA groups. Coordinates advocacy, access to treatment, and research priorities across Europe.

International network for neuromuscular diseases. Provides care guidelines, trial readiness infrastructure, and global patient registries.

MDA SMA resources — care centers, research grants, support services, and educational materials for families and clinicians.

National Institute of Neurological Disorders and Stroke — disease overview, current research, and NIH-funded SMA programs.

National Organization for Rare Disorders — comprehensive disease guide, clinical trials, and patient assistance programs.

Patient community platform with real-world treatment experiences, clinical trial awareness, and peer support resources.

Python library for molecular descriptor calculation, fingerprinting, substructure search, and ADMET prediction. Core tool for small molecule drug design.

Open-source framework for molecular machine learning — molecular property prediction, generative models, and protein-ligand binding.

Meta AI protein language models — predict protein structure, function, and evolutionary relationships. Useful for SMN protein analysis.

Automated protein structure modeling server. Generate 3D models of SMA-related proteins for docking and interaction studies.

Framework for analyzing single-cell RNA-seq data. Used for motor neuron subtype identification and SMA transcriptomic profiling.

Open REST API with 21 targets, 16 drugs, 849 sources, 5,116 claims, 449 trials, and 63 prioritized hypotheses. Free access, no auth required for reads.

Daily news coverage of SMA research, clinical trials, treatment access, and patient stories. Columns, podcast, and community forums.

Neuromuscular disease community platform — news, research updates, patient voices, and advocacy for SMA and related conditions.

Annual awareness campaign (Feb 28/29) for rare diseases including SMA. Resources for advocacy, policy change, and public awareness.

This platform — open-source evidence graph with 849 sources, 5,116 claims, 21 targets, 16 drugs, 449 trials, and 63 prioritized hypotheses.

Official FDA prescribing information — indications, dosage, warnings, clinical trial data, and pharmacology for the first approved SMA therapy.

Official prescribing information for the first oral SMA therapy — including FIREFISH and SUNFISH trial results.

European Medicines Agency public assessment report — EU regulatory basis, risk-benefit analysis, and post-marketing requirements.

FDA biologics page for onasemnogene abeparvovec — safety communications, REMS program, and post-marketing surveillance data.