ALLMedicine™ Cockayne Syndrome Center

Mar 3rd, 2023 - Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination...

Feb 16th, 2023 - Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. We ascertained five individuals with monoalleli...

Jan 4th, 2023 - We present a mild case of Cockayne syndrome that was referred to us with an extreme sunburn at the age of 3. In early teens, although her cutaneous symptoms alleviated without any medications, she developed tremor and dysarthria. Neurological exam...

Nov 27th, 2022 - Cockayne syndrome is a rare DNA repair disorder marked by premature aging, poor growth, and intellectual disability. Neurological complications such as seizures, movement disorder, and stroke have been reported. Hemiplegic migraine has not been re...

Nov 8th, 2022 - This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne sy...

Mar 3rd, 2023 - Three rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination...

Nov 8th, 2022 - This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne sy...

Aug 19th, 2022 - Cockayne syndrome (CS) is related to defective DNA transcription and/or repair and belongs to the family of Nucleotide Excision Repair. It is an autosomal recessive multisystemic disorder characterized by mental retardation, microcephaly, severe g...

Dec 1st, 2021 - Despite the natural progression of Cockayne's syndrome, affected patients also present with variable neurological and gastrointestinal damage (gastroesophageal reflux, recurrent vomiting, swallowing disorders, etc.) with varying repercussions on t...

Jun 23rd, 2011 - This study is to compare the exposure of orally administered Prodarsan to the intravenous dosed Osmitrol (10% solution) in Cockayne Syndrome (CS) patients. Also the pharmacokinetics of single and multiple orally dosed Prodarsan will be evaluated a...

Dec 28th, 2019 - Simon Stevens, head of NHS England becomes a Sir, leading this year's healthcare field in the 2020 New Year Honours List. The recipients in healthcare are alongside stars of sport, entertainment, public service, politics, charity work, and "the ou...

Jul 19th, 2016 - Review the PDF of the fact sheet on pediatric photosensitivity disorders with board-relevant, easy-to-review material. This month's fact sheet will review important disorders in the pediatric population where photosensitivity is a major feature Pr.