Xeroderma Pigmentosum
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
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
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Reference
Authoritative identity, definition & identifiers.
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.
- 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.