Five thousand scattered points of light.
One map to see the constellations.
Follow a diagnosis to a shared mechanism, a community already moving, and a next question worth asking.
Map a clinical story.
Paste a de-identified symptom description or clinical note. Recognized features appear on the atlas as an exploratory overlay.
Look beyond the map.
Check public registry links, current studies and sites, and federally funded researchers. Each record shows where it came from.
Where the evidence disagrees.
Conflicting variant calls, disputed trial endpoints, and preprints that contradict published work, alongside the open questions where a new experiment matters most. Contested links appear amber on the map.
Evidence conflicts 5
Gain- and loss-of-function SCN2A variants may call for opposite treatment strategies.
- A · Early-onset cases often show increased channel activity; sodium-channel blockers may help some.
- B · Later-onset or autism-predominant cases often show reduced activity; blockers may worsen symptoms.
Needed: Patch-clamp classification of registry variants paired with treatment-response records.
PMID:30000101 (demo) · PMID:30000102 (demo)
Some SCN1A missense variants carry conflicting pathogenicity calls across submitters.
- A · Several labs classify selected missense variants as likely pathogenic.
- B · Other submitters list the same variants as uncertain significance.
Needed: Functional assay panel for variants with conflicting ClinVar submissions.
ClinVar conflicting interpretations (demo)
A preprint reports autophagy restoration reduces storage; peer-reviewed work finds it is secondary.
- A · Preprint (not peer-reviewed): restoring autophagy lowered lipid storage in cell models.
- B · Peer-reviewed study: autophagy changes follow storage and do not drive it.
Needed: Time-course study in NPC1 and GBA1 cell models to order storage vs autophagy events.
bioRxiv 2025.01.0001 (demo, preprint) · PMID:30000103 (demo)
Studies disagree on whether seizure frequency alone captures meaningful benefit.
- A · Primary endpoint: convulsive seizure frequency reduction.
- B · Families and some investigators prioritise cognition, sleep, and behaviour outcomes.
Needed: Co-design a caregiver-reported outcome measure and validate it against seizure diaries.
NCT00000003 (demo) · PMID:30000104 (demo)
Whether Fabry belongs in the same lipid-clearance cluster is debated.
- A · Shared lysosomal lipid storage supports grouping.
- B · Different substrate and organ involvement argue for a separate cluster.
Needed: Compare lysosomal proteomic signatures across GLA, GBA1, and NPC1 models.
PMID:30000105 (demo)
Consensus gaps, ranked by urgency
Can variant direction be predicted before treatment choices are made?
0.93Wrong-direction therapy may cause harm.
Proposed: Build a validated gain/loss classifier from functional data.
Do NPC and Gaucher share a measurable biomarker of lysosomal stress?
0.86A shared marker would let both communities pool outcome data.
Proposed: Pool registry plasma samples and test a common lipid biomarker panel.
Does potassium-channel dysfunction converge with sodium-channel disease at the circuit level?
0.70Convergence would open shared therapeutic hypotheses.
Proposed: Compare network excitability in KCNQ2 and SCN8A neuron models.
Disputes and gaps are illustrative demo entries; references marked (demo) are placeholders.
Follow the threads.
The map is a starting point. Every object below opens into its relationships and supporting context.
Showing 18 of 46. Use the search above to find more.