RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Updates are delayed or unverified. Check original sources for the latest information.
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Cockayne Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
The E3-ubiquitin ligase CSA drives AKT activation through K63-linked ubiquitination: implications for cancer and Cockayne syndrome
Luca Proietti‐De‐Santis et al., Research Square (29 September 2026)
https://doi.org/10.21203/rs.3.rs-11033309/v1
- 2.
AAV-mediated gene therapy demonstrates phenotypic rescue in a mouse model of Cockayne syndrome.
Batista Ana Rita et al., The Journal of clinical investigation (15 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42531030/
- 3.
CRISPR/Cas9-mediated editing of ERCC6 in iPSCs: A disease model for Cockayne Syndrome type B.
Hamam-Marawi Gamil et al., Stem cell research (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42349105/
- 4.
Cockayne syndrome: When UV photosensitivity lights the path to diagnosis.
Calandra Cristian R et al., Parkinsonism & related disorders (10 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42580981/
- 5.
Recognition of multimolecular G-quadruplex regulates phase separation of cockayne syndrome B.
Antariksa Naura Fakhira et al., Nucleic acids research (3 July 2026)
https://pubmed.ncbi.nlm.nih.gov/42454371/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Cockayne Syndrome
Cockayne syndrome is a rare inherited condition caused by faults in the genes that repair DNA, most often ERCC6 or ERCC8. It leads to poor growth, progressive problems with the brain and nerves, hearing and vision loss, and skin that burns easily in sunlight. Severity varies widely between people. There is no cure, so care focuses on nutrition, sun protection, hearing and vision support, and therapies to maintain comfort and function.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Common Questions
What is Cockayne Syndrome?
Cockayne syndrome is a rare inherited condition caused by faults in the genes that repair DNA, most often ERCC6 or ERCC8. It leads to poor growth, progressive problems with the brain and nerves, hearing and vision loss, and skin that burns easily in sunlight. Severity varies widely between people. There is no cure, so care focuses on nutrition, sun protection, hearing and vision support, and therapies to maintain comfort and function.
How many clinical trials are available for Cockayne Syndrome?
RareWays currently indexes 3 clinical trials for Cockayne Syndrome. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Cockayne Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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This information is for general awareness only.
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