Cockayne Syndrome — Research Summary
Printed from RareWays (rareways.com.au) on 11 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
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/
- 2.
UV damage mapping reveals different impacts of yeast XPD mutations on global genomic and transcription-coupled DNA repair.
Hoag Allyson et al. — The Journal of biological chemistry (25 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42641885/
- 3.
Collaborations with Miral Dizdaroglu: expanding on connections between oxidative DNA damage and aging and disease.
Bohr Vilhelm A — International journal of radiation biology (10 August 2026)
https://pubmed.ncbi.nlm.nih.gov/42573227/
- 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.
Genetic insights into syndromic anophthalmia/microphthalmia: novel molecular findings in a prenatal context.
El-Dessouky Sara H et al. — Ophthalmic genetics (1 August 2026)
https://pubmed.ncbi.nlm.nih.gov/41795876/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Recruiting — Sanford Health
https://clinicaltrials.gov/study/NCT01793168
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.
Most Recent Research
Cockayne Syndrome type B (CSB) is caused by mutations in the ERCC6 gene, which encodes a key protein involved in transcription-coupled nucleotide excision repair (TC-NER) and chromatin remodeling. Deficiency in CSB leads to defective transcriptional recovery after DNA damage, oxidative stress accumulation, and progressive neurodegeneration. In this work, we generated a CRISPR/Cas9-engineered human induced pluripotent stem cell (iPSC) line, IUFi004-A-12, carrying a homozygous mutation in ERCC6 causing a premature stop codon in its 10th exon. The modified iPSCs displayed normal morphology, expressed pluripotency markers, and differentiated into all three germ layers. This model enables mechanistic studies of CSB dysfunction and facilitates therapeutic development for Cockayne Syndrome.
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 8 clinical trials for Cockayne Syndrome, of which 3 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Cockayne Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.