🧠NeurodegenResearchLive ✉ Suggest a correction
Demonstration and educational project by Danielle Boyce. Not medical, legal, or regulatory advice. Sample and template language is provided for illustration and must be reviewed and adapted before any real use. Not affiliated with, endorsed by, or representing any advocacy group, registry, company, or institution named.

NeurodegenResearchLive guide

A plain-language orientation to the rest of the site: what each page is for, where the data come from, and what the project is — and is not. Everything here is a research-awareness and education project, not medical advice.

Start hereWhat NeurodegenResearchLive is

NeurodegenResearchLive is a zero-build, no-server research monitor, registry toolkit, and advocacy directory for the neurodegeneration community. It runs entirely in your browser from open, keyless data sources; nothing is stored on a server. Several pages sit under one umbrella, switchable from the bar at the top of every page.

It is an independent research-awareness project. It is not medical advice, it does not represent or speak for any organization, and listing a group or gene is not an endorsement. Information is compiled from public sources, ages quickly, and may be incomplete.

PageLive Monitor

The front door. A live feed of publications, preprints, and clinical trials across neurodegeneration genes and disease families, with an identity card per gene.

Where the data come from

It queries Europe PMC (publications, preprints, full text), ClinicalTrials.gov (trials), Open Targets (known drugs and target evidence on the gene cards), and Crossref (the Funders panel) live from the browser. No API keys. If a source is briefly unavailable, that panel degrades to a link-out or a symbol-based search rather than failing the page.

How genes are organised

Genes are grouped by disease family and inheritance. Numeric identifiers left blank in the seed are resolved live from mygene.info at load, so the identity-card links and Open Targets populate without hand-curation. The list refreshes from neurodegen_genes.tsv in the repository when reachable — editing that file is how you extend or correct the panel.

PageRegistry Toolkit demo

A demonstration registry and planning toolkit. It shows what standing up a registry can look like and gives orientation and downloadable resources for communities evaluating one.

What it includes

  • A searchable, harmonized data dictionary (survey and health-record modules).
  • A research-readiness maturity model and self-assessment tools.
  • Implementation-science guides, and a downloadable vendor comparison worksheet.

All participants and records shown are fictional. The dictionary is a cross-disease template; populating a neurodegeneration-specific instrument set is a separate content task.

PagePAG Directory

A searchable directory of advocacy, support, and research-advocacy organizations across the neurodegeneration disease families, US and global, filterable by the same families as the genes, with a verified-link badge.

The url_status field distinguishes links confirmed against a live source during assembly (verified) from those still to revalidate (confirm); the directory shows this as a verified or check-link badge. The page accepts URL parameters so any link can deep-link into a filtered view, for example pag.html?family=ALS or pag.html?q=ataxia.

PageConditions

An explorer of the genes and disease families and the relationships among them. The gene backbone and the advocacy directory share one family taxonomy so they cross-link — pick a family in one and follow it into the other. A companion knowledge-graph view renders genes, conditions, and organizations as a connected network.

PageLearn

The how-to shelf beside the live feeds: longer-form courses, book companions, ready-to-adapt templates, and the OMOP/OHDSI foundations.

Everything in Learn is educational and template material: review and adapt it with your own IRB, legal, and governance teams before any real use.

ReferenceDisease families

The gene backbone and the advocacy directory share one family taxonomy so they cross-link: ALS/MND, FTD, Parkinson and parkinsonism, PSP/CBD, MSA, Lewy body, Alzheimer and dementias, Huntington, ataxias, hereditary spastic paraplegia, prion, SBMA, SMA, Charcot-Marie-Tooth, NBIA, and neuronal ceroid lipofuscinoses (Batten). The directory adds a cross-disease umbrella grouping.

The backbone is monogenic by design, with a small set of established risk genes (APOE, TREM2, SORL1, ABCA7, PLD3, GBA1) carried under a Risk tag rather than treated as monogenic gene–disease relationships. Genes that span families (for example C9orf72, TARDBP, FUS, VCP, TBK1, MAPT) carry comma-separated family tags on a single row.

ProvenanceData and provenance

Genes

A curated seed of the principal genes across each family, in the shape the Live Monitor expects (symbol, HGNC, Ensembl, Entrez, OMIM, families, inheritance, and a class marking mono versus risk). It is meant to be maintained from Genomics England PanelApp (adult-onset neurodegenerative superpanel) and GenCC filtered to the MONDO neurodegenerative subtree. This is a seed, not a definitive panel — give it a scientific once-over before publicising the site.

Advocacy groups

The advocacy CSV carries organization, acronym, disease family, primary conditions, scope, country, website, url_status, and notes. Links confirmed during assembly are marked verified; the rest are flagged to revalidate.

Registry dictionary

A harmonized, largely disease-agnostic registry dictionary combining GenomeConnect, Simons/SFARI, and CoRDS instruments with a harmonized registry core. It is a cross-disease template read from the repository root, with a device-upload fallback if the file cannot be reached.

Every source in the Live Monitor is open and keyless and is queried directly from the visitor's browser. If you build on the underlying resources, cite Genomics England PanelApp, GenCC (CC0), and Orphanet (CC BY 4.0) as appropriate.

ScopePrivacy and scope

There is no server and no account. Queries run from your browser to public APIs; nothing you do here is stored or sent to this project. The Crossref Funders panel identifies itself to Crossref's polite pool using a contact email so that requests are well-behaved.

The registry demonstration shows only fictional participants and records. The gene panel is a first-pass seed and the advocacy directory ages quickly; treat both as starting points to verify, not as authoritative reference.

ReferenceGlossary

OMOP CDM
The Observational Medical Outcomes Partnership Common Data Model — a shared structure for health data so the same analysis can run at many sites.
OHDSI
Observational Health Data Sciences and Informatics — the open-science community that maintains the OMOP CDM, its vocabularies, and an open-source analytics stack.
Advocacy group
A patient-, family-, or research-advocacy organization for a condition or family of conditions. The directory here lists them; listing is not endorsement.
Monogenic
A gene–disease relationship where variants in a single gene are sufficient to cause the condition, as opposed to a risk gene that shifts probability.
Risk gene
A gene where variants raise the likelihood of a condition without being sufficient to cause it on their own (for example APOE in Alzheimer disease).
Inheritance
How a condition is transmitted in families — for example autosomal dominant, autosomal recessive, or X-linked.
Registry
A structured, ongoing collection of information about people living with a condition, used for research, natural-history study, and trial-readiness.
Data dictionary
A field-by-field description of what a dataset holds — the name, meaning, and format of each variable.
Phenotype
A computable definition that identifies people with a condition or trait in health data, using codes and logic rather than a single flag.

Help improve itFeedback

Spot something wrong, out of date, or unclear — a mis-tagged gene, a dead advocacy link, a family assignment at the edges? Send a note. Running a PanelApp or GenCC pull against the MONDO neurodegeneration subtree and reconciling the gene backbone is the recommended next step before a wider launch.

Something look wrong or unclear? Suggest a correction or send a note. NeurodegenResearchLive is a demonstration project by Danielle Boyce, boycedatascience.com.