Any further drug reactions in this patient group should be
reported to the regulatory authorities in your own country.
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
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.
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.
Laboratories of Genetic Diagnosis, Strasbourg University
Medical Genetic Laboratory, Faculty of medicine,
Molecular diagnosis of Cockayne syndrome and other DNA
Translational research on DNA repair and transcription
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
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
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