Harlequin Ichthyosis: Queen Mary features in ITV1's 'Real Families'

Professor David Kelsell with the Betts family

03 October 2005

Research from Queen Mary’s Institute of Cell and Molecular Science is to feature in an ITV1 Real Families documentary on Tuesday 4 October at 8pm.

The programme follows two sets of siblings who suffer from a disease called Harlequin Ichthyosis; Lucy and Hannah Betts (aged 18 and 15), and Dana and Lara Bowen (aged eight and 18 months).

The skin of babies born with this extremely rare inherited condition forms thick hard diamond shaped plaques with deep fissures due to its inflexibility, which increases their susceptibility to infection. It may also cause the eyes, ears, mouth to contract abnormally. This makes it difficult for them to feed.

Research led by Professor David Kelsell from the Centre for Cutaneous Research, has made a major breakthrough in this disorder. His team have found that a gene called ABCA12, which codes for a protein that is important in lipid transport, skin barrier formation and skin cell development is abnormal in this disease. Mutations within this gene were found to be the major cause of Harlequin Ichythosis.

The survival rate of children born with this disease has improved over the years, but many will die within two days of birth, and treatment will be required for their entire life. Overnight the girls will grow as much skin as a normal body does in 14 days. Both sets of sisters face a daily ritual of scrubbing and creaming their skin every four hours, to prevent their skin from cracking and becoming infected.

While the girls all cope with their condition in different ways, Lucy in particular has thrived, attending a mainstream school and recently passing 10 GCSEs, she now studies childcare, working with special needs children.
 
Initially, Professor Kelsell’s findings will facilitate the prenatal DNA diagnosis of this life-threatening disorder and also pre-implantation genetic testing. However with further research, more effective treatments could also be designed for Harlequin children like the girls.

All four girls provided DNA for the study, and met with Professor Kelsell as part of the programme, to discuss the implications of his research in the hope that a successful treatment may soon be found.

The documentary will be screened on ITV1, on Tuesday 4 October at 8pm, and later this week on ITV2 (6 October, 8pm).

For more information visit the Harlequin Ichthyosis Trust or the Ichthyosis Support Group. You can also donate money directly to fund research and education into Harlequin Ichthyosis through Just Giving.

For further information, please contact:

Siân Wherrett
Communications Officer
Queen Mary, University of London
Tel: +44 (0) 20 7882 7454
email: s.wherrett@qmul.ac.uk

Notes to Editors:

Institute of Cell and Molecular Science

• The Institute of Cell and Molecular Science (ICMS) was established in 2003 and brings together seven research Centres each with focussed programmes which examine the cellular mechanisms of the maintenance of health, the response to injury and repair and the pathogenesis of disease. Major research themes linking multiple centres include adult stem cell biology and host-parasite biology.
• The component Centres are:
• Cutaneous Research
• Diabetes and Metabolic Medicine
• Gastroenterology
• Haematology
• Infectious Disease
• Neurosciences
• Surgery
• The Institute’s major research funders include the MRC, BBSRC, Cancer Research UK, Wellcome Trust, DEBRA, AICR and the Leukaemia Research Fund.

Queen Mary, University of London

• Queen Mary is one of the leading colleges in the federal University of London, with over 11,000 undergraduate and postgraduate students, and an academic and support staff of around 2,600.

• Queen Mary is a research university, with over 80 per cent of research staff working in departments where research is of international or national excellence (RAE 2001).  It has a strong international reputation, with around 20 per cent of students coming from over 100 countries.

• The College has 21 academic departments and institutes organised into three sectors: Science and Engineering; Humanities, Social Sciences and Laws; and the School of Medicine and Dentistry.

• It has an annual turnover of £200 million, research income worth £43 million, and it generates employment and output worth nearly £400 million to the UK economy each year.

• Queen Mary’s roots lie in four historic colleges: Queen Mary College, Westfield College, St Bartholomew’s Hospital Medical College and the London Hospital Medical College.

Top