The Department of Dermatology (School of Medicine, Cardiff University [UWCM pre 2004]) has a long established research laboratory that has over the years also provided various specialist services to both the University research community and the NHS. These laboratories have been refurbished to provide a modern cell and molecular biology research environment together with the more established histopathology, immunohistochemistry and immunofluorescence. We are able to conduct a wide range of cell and molecular techniques and can offer a modern specialist molecular genetic screening service. We also have access to the Central Biotechnology Services (CBS) within the School of Medicine for advanced Genomics and Proteomics as well as Automated Sequencing, FACS analysis, CLSM and LCM.
The research laboratory currently has two Principal Investigators (Dr. Paul E. Bowden, Senior Lecturer and Dr. Rebecca M. Porter, Lecturer). Basic research is divided into two main subject areas: understanding epidermal differentiation at the cell and molecular level including cell signalling pathways that determine epidermal stem cell fate and the commitment to terminal differentiation. This subject area also includes the pathology of cutaneous diseases, such as genodermatoses, psoriasis and acne. The second subject area revolves around skin appendages particularly understanding gene regulation and cell signalling during the hair growth cycle and sebum production in the sebaceous gland.
Both of these areas use overlapping techniques to examine gene expression, gene regulation and signal transduction pathways. Experiments are conducted in vivo, in vitro and in cell culture. More details can be found on the individual research pages of the two principal investigators (link to PEB and RMP pages).
We are involved with two IRGs (MR2 [Metabolism, Regeneration and Repair] and Cancer) and actively seeking collaborative projects in these research areas.
We offer laboratory based projects that lead to various postgraduate degrees including MPhil, MD and PhD. There is a teaching element in all three degrees but they are based to a large extent on laboratory research in the subject areas listed above.
We screen for gene mutations in a variety of skin disorders as well as conducting specialist immunofluorescence (as well as cryostat and paraffin embedded sectioning together with immunohistochemistry via CBS).
Keratin Gene Mutations in various Genodermatoses (Keratinopathies):
Epidermolysis Bullosa Simplex (EBS), Epidermolytic Hyperkeratosis (EHK), Linear Epidermal Naevus (LEN) [Mosaic EHK], Ichthyosis Bullosa of Siemens (IBS), Epidermolytic Palmoplantar Keratoderma (EPPK), Pachyonychia Congenita (PC1, PC2), Steatocystoma Multiplex (SM), Focal Palmoplantar Keratoderma (FPPK) and Monilethrix
Other Genodermatoses:
STS Gene Defects in Recessive X-linked Ichthyosis (RXLI)
DHCR7 Gene Defects in Smith-Laemli-Opitz Syndrome (SLOS)
Cryostat sections of skin are prepared for diagnostic immunofluorescence. This is a complete service that includes diagnosis by experienced clinical staff.
This valuable technique is used to diagnose a variety of cutaneous diseases:
Pemphigus
Bullous pemphigoid
Dermatitis herpetiformis
Bullous dermatoses
Epidermolysis bullosa
Pemphigoid gestationis
Lupus erythematosus
For further information contact: Dr Paul E Bowden