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Disease
Xeroderma Pigmentosum
Clinical development underwayEmerging research
1
Publications
1
Clinical trials
2023
Latest publication
Latest activity
betaRecent clinical, regulatory, research and industry developments relating to this disease.
Research2023-12-01Brain : a journal of neurology
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
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Clinical trials
The current development programme across all trial phases.
Clinical programme
1
0
0
0
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Most influential
Major themes2
- Central Nervous System Diseases1
- Xeroderma Pigmentosum1
Leading journals1
- Brain : a journal of neurology1
Leading researchers8
- Abiona A1
- Bodi I1
- Craythorne E1
- Fassihi H1
- Fleszar Z1
- Garcia-Moreno H1
- Garrood I1
- Giunti P1
Affiliations (unnormalised)5
- Ataxia Centre1
- Clinical Neuropathology1
- Genome Damage and Stability Centre1
- Guy's and St Thomas' NHS Foundation Trust1
- University of Iowa Carver College of Medicine1
Reference
Authoritative identity, definition & identifiers.
Defined in MeSH
A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.
Identifiers
References & data sources
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.