LABORATORY RESEARCH

The Department of Dermatology at UWCM has a long established research laboratory that has over the years provided various specialist services to both the University research community and the NHS. These laboratories have been recently refurbished to provide a modern cell and molecular biology research environment together with the more established histopathology, immunohistochemistry, immunofluorescence (including CLSM), cell culture and electron microscopy (together with the EM Unit). We conduct a wide range of cell and molecular techniques and can offer a modern molecular genetic screening service.

Basic Laboratory Research

Basic research is divided into two main subject areas: understanding the cellular and molecular pathology of cutaneous diseases including genodermatoses and understanding gene regulation during the hair growth cycle. Both of these areas use overlapping techniques to examine gene expression, gene regulation and signal transduction pathways. We are also developing new are more rapid techniques for screening patients with genetic diseases of the skin.

Recent projects have included:

• Structure and Regulation of Hair Keratin Genes
• Regulation of Hair-specific Keratin Genes in the Hair Growth Cycle
• Characterisation and Regulation of Keratin Gene Expression during Re-epithelialisation of Acute and Chronic Wounds
• Investigation of the Stress Response in Tissues Bearing Keratin Gene Mutations
• Study of Gene Mutations causing various Genodermatoses

In October 2004, Dr Rebecca M. Porter was appointed as Lecturer in Cell and Molecular Biology. Her work centres on the study of the hair follicle. Click here for more information.

Research Collaborations

Integrated Research Groups (IRGs)

We are involved with two IRGs (Genomic Approaches to Health and Disease; Repair, Regeneration and Replacement) and actively seeking collaborative projects in these research areas.

Collaborative Research (UWCM)

• Joint PhD Studentship (TTF2 and Hair Gene Regulation) with Dr. Marian Ludgate (Dept. of Medicine)
• Joint project on MCV and Keratinocyte Biology (Dr. Joachim Bugert, Medical Virology)

• Anatomy and Molecular Structure of the Canine Claw (Joint PhD studentship with Dr. John Reilly, DeMontfort University, Leicester, UK)
• Heat Shock Proteins and Intermediate Filament Structure during Epidermal Stress Responses (Prof. R.A. Quinlan, Biological Sciences, University of Durham, UK)
• Keratin Expression and Gene Therapy in Patients with Genodermatoses (Prof. A. Vahlquist, Dept. of Dermatology, University Hospital, Uppsala, Sweden)
• Keratin Gene Regulation and Expression (Dr. J.A. Rothnagel, Dept. of Biochemistry, University of Brisbane, Australia)

Teaching

We offer laboratory based projects that lead to various postgraduate degrees including MSc, 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.

Testing and Screening Services

We screen for gene mutations in a variety of skin disorders as well as conducting specialist histopathology, immunocytochemistry and electron microscopy diagnostics.

Genetic Screening:

Keratin Gene Mutations in various Genodermatoses:

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)
Monilethrix

Other Genodermatoses: STS Gene Defects in Recessive X-linked Ichthyosis (RXLI) DHCR7 Gene Defects in Smith-Laemli-Opitz Syndrome (SLOS)

Immunocytochemistry Diagnostics:

Cryostat sections of skin are prepared for diagnostic immunofluorescence. This valuable technique is used to diagnose a variety of cutaneous diseases:

• Pemphigus
• Bullous pemphigoid
• Dermatitis herpetiformis
• Bullous dermatoses
• Epidermolysis bullosa
• Pemphigoid gestationis

Histopathology Diagnostics:

We are able to offer a comprehensive service for the preparation and diagnosis of skin specimens at a competitive rate:

• Biopsy specimens of skin are normally received in the laboratory in 10% neutral buffered formalin. However, we can arrange to biopsy patients if necessary.
• Paraffin wax sections of tissue are prepared and routinely stained with haematoxylin and eosin. Other special stains are available on request.
• Experienced dermatopathologists examine, diagnose and photograph histopathology slides.
• We specialise in arranging the collection and preparation of skin specimens for single or multi-centre clinical trials.

Electron Microscopy:

Skin tissue is processed and prepared for both transmission and scanning electron microscopy. This service is available as a research tool and diagnostic aid.

Photobiology and Photodermatology:

The photodermatology unit within the Department of Dermatology at the University of Wales College of Medicine and University Hospital of Wales has over fifteen years experience in this specialised field.

We are able to offer a complete diagnostic service for patients presenting with potential light aggravated disorders in our dedicated clinic. The range of photodermatoses and conditions investigated includes:

Photoaggravated Dermatoses:

• Lupus Erythematosus
• Dermatomyositis
• Pemphigus and Pemphigoid
• Erythema Multiforme
• Viral Exanthems (e.g. Herpes Simplex)
• Cutaneous T-Cell Lymphoma

DNA Repair-Deficient Photodermatoses:

• Xeroderma Pigmentosum
• Smith -Lemli-Opitz Syndrome
• Cockayne's Syndrome
• Bloom's Syndrome

Cutaneous Porphyrias:

• Porphyria Cutanea Tarda
• Variegate Porphyria
• Erythropoietic Protoporphyria

Idiopathic Photodermatoses:

• Polymorphic Light Eruption
• Solar Urticaria
• Chronic Actinic Dermatitis
• Actinic Prurigo
• Hydroa Vacciniforme

Chemical Photosensitivity:

• Photoallergy to systemic and topical agents:

  Tetracyclines
  Sulphonamides
  Diuretics
  Sunscreens
  Non-Steroidal anti-inflammatories
  Psoralens
  Retinoids
  

Monochromator Light Testing:

An important and invaluable component of the service we offer is our ability to carry out monochromator light testing using a xenon arc system, enabling us to distinguish the exact wavelength of UV or visible light responsible for the cutaneous photo-induced reactions.

Patch Testing:

Conventional patch testing and photo-patch testing is also a routine service available within the Dermatology Department at the University of Wales College of Medicine and University Hospital of Wales.

Photodynamic Therapy (PDT):

Topical PDT is a novel, safe and effective treatment for the eradication of non-melanoma skin cancers and pre-cancerous lesions such as Basal Cell Carcinoma, Bowen's Disease and Solar Keratoses. We are able to offer effective treatment to such patients based on topical 5-Aminolaevulinic acid (ALA) as the photosensitizer followed by irradiation with red light centred at 630nm.

This treatment targets the diseased cells and avoids conventional treatments including surgery where multiple, large or cosmetically sensitive lesions are present.

For further information contact:-

Dr Paul E Bowden
Tel: 029 20 742883
e-mail: Bowden@cf.ac.uk

or

Professor Andrew Y Finlay
Tel: 029 20 744721
e-mail: FinlayAY@cf.ac.uk

Website: www.dermatology.org.uk