IMPORTANT DRUG INFORMATION

Metronidazole (also known as Flagyl® or Metrolyl®) may cause acute liver failure in children with Cockayne syndrome and should be avoided. Please alert your doctors to this.

Health professionals can obtain further information from
Dr. Brian Wilson

Any further drug reactions in this patient group should be reported to the regulatory authorities in your own country.
 
Jayne Hughes   My name is Jayne Hughes and I am Mum to Amy who had CS/XRCC4 and I founded Amy and Friends.

It is a pleasure meeting and helping families. I am so grateful to have had Amy and so many wonderful children/young people in my life.
 
Molecular biologist working at the Institute of Molecular Genetics CNR in Pavia, Italy.

Her research activity is focused on the identification of novel disease genes responsible for trichothiodistrophy (TTD), Cockayne Syndrome (CS) and xeroderma pigmentosum (XP).

She is involved in several research projects aimed at identifying the molecular pathways whose alteration may explain the premature aging, neurodegeneration and carcinogenesis events that differentially characterize patients affected by TTD, CS or XP.
  Molecular Biologist
 
Dr. Arjan F. Theil   Dr. Arjan F. Theil received his Ph.D. in 2014 from the Erasmus University Medical Centre in Rotterdam, The Netherlands, where he studied mammalian nucleotide excision repair (NER) and biological function of a several key NER proteins. Currently, he works as a scientist in the group of Prof.Dr. Wim Vermeulen at the Department of Molecular Genetics & Oncode Institute, Erasmus University Medical Centre, Rotterdam, The Netherlands.

His research focuses on the molecular mechanism and regulation of nucleotide excision repair. He makes use of mammalian cells to study pathogenic mutations in NER genes and their impact on health and disease.

Dr. Arjan F. Theil is also consultant scientist for the multi-disciplinary clinic for DNA repair syndromes at the Erasmus Medical Centre, Rotterdam, The Netherlands. Our service includes next to certified diagnostic tests also research-based genetic analysis and functional studies for syndromes with inherited defects in DNA repair processes, offered to clinicians and researchers around the world.

For more information please visit our website:
http://www.vermeulenlab.com/diagnostics/
 
Nadège Calmels, PharmD, PhD

Affiliations:

Laboratories of Genetic Diagnosis, Strasbourg University Hospital, France

Medical Genetic Laboratory, Faculty of medicine, Strasbourg, France

Topics:

Molecular diagnosis of Cockayne syndrome and other DNA repair disorders

Translational research on DNA repair and transcription diseases.
  Nadège Calmels
 
Alan Lehmann   Alan Lehmann: Cockayne Syndrome

I started doing laboratory research on cells from patients with CS in the late 1970’s. From that work I was able to devise a cellular diagnostic test to either definitively confirm or exclude a diagnosis of CS.

This is the “Recovery of RNA synthesis” or RRS test, that we and others are still using today.

I am now semi-retired, and although I no longer run a research lab, we still do diagnostic testing for CS and related disorders.

I am consultant scientist for the CS/TTD clinic in London.
 
Martijn S. Luijsterburg

Leiden University Medical Center (LUMC)

Department of Human Genetics

We are a basic research laboratory and we aim to understanding the role of the human Cockayne syndrome (CS) proteins in DNA repair and beyond. We employ genome-wide proteomic and genetic screens to identify modifiers of CS-mediated pathways with the goal to understand the molecular origin of Cockayne syndrome, which will ultimately enable the first steps toward possible intervention.

We also, through our clinical genetics department, provide possibilities for molecular CS testing through exome sequencing, and we work together with clinicians to better understand specific cases-of-interest by performing in-depth functional studies on patient-derived fibroblasts.
  Martijn S. Luijsterburg
 

 


 
Privacy Policy - Cookie Policy - Terms & Conditions