Articles for the ‘Research’ category


New research study: Genotype-Phenotype Correlation in Autosomal Recessive Congenital Ichthyosis

The term autosomal recessive congenital ichthyosis (ARCI) currently refers to a rare inherited group of ichthyosis that includes lamellar ichthyosis (LI), congenital ichthyosiform erytheroderma (CIE), harlequin ichthyosis (HI), bathing suit ichthyosis (BSI) and self-healing collodion baby. Affected individuals are often born with a similar collodion membrane or red scaly skin. Many ISG members have recently […]

Lamellar ichthyosis patient survey

A Qualitative Study of Lamellar Ichthyosis In 2013 Galderma, a pharmaceutical company exclusively focused on dermatology, approached the Ichthyosis Support Group, eni – the European Network for Ichthyosis and FIRST to collaborate on a unique project involving online qualitative research with volunteer members affected with Lamellar ichthyosis. The volunteers would be required to fulfill a two […]

Update on Research on Autosomal Recessive Congenital Ichthyosis/Lamellar Ichthyosis

Professor Edel O’Toole, Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, London (ISG MAB) Transglutaminase 1 is an enzyme produced in the upper layers of the skin which is important for formation of the skin barrier.  The skin barrier protects the body from water loss and infection.  Mutations in transglutaminase […]

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Research – Participants Needed

Researchers are looking for mothers/daughters of individuals with X-linked ichthyosis who have suffered mental health problems after giving birth. Work undertaken at Cardiff University has recently suggested that women who have reduced levels of the molecule steroid sulphatase may be at increased risk of developing postnatal mental health problems. In order to see whether this […]


Ichthyosis vulgaris research update April 2012

Ichthyosis vulgaris research update ~ Dermatology & Genetic Medicine, Dundee, April 2012 Filaggrin gene discovery The research group in Dundee, Scotland, led by Professor Irwin McLean first discovered the changes in the filaggrin gene that cause ichthyosis vulgaris in 2006. Since this time we have been working hard to learn more about the filaggrin gene […]


Eradication of K1/K10 in the epidermis – a model for Bullous Congenital Ichthyosiform Erythroderma (BIE/EHK) therapy

Update 2012 We have finished the project and published it recently in the highly renowned international scientific journal Journal of Cell Science (L. Wallace, L. Roberts-Thompson, J. Reichelt. 2012. Deletion of K1/K10 does not impair epidermal stratification but affects desmosomal structure and nuclear integrity. Journal of Cell Science. Epub ahead of print). (Wallace et al., […]

Gene therapy

Gene Therapy for genetic skin disease Netherton syndrome

Update 2012 Gene therapy for inherited skin disease Netherton syndrome We have been developing gene therapy for the inherited skin disease Netherton syndrome. The therapeutic process involves taking skin stem cells from a patient with Netherton syndrome which are cultured in the laboratory and modified by introducing a new gene called SPINK5 (therapeutic gene). These […]

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2011 Ichthyosis Support Group/British Skin Foundation Small Grant

The Ichthyosis Support Group (ISG) was delighted to team up with the British Skin Foundation (BSF) to award a joint grant of £10,000 for 2011 towards research into helping individuals living with ichthyosis. From the applications received the ISG’s Medical Advisory Board, and advvisors from the BSF decided the grant should be given to the […]


Article in The Scientist, Magazine of the Life Sciences about Ichthyosis Vulgaris

An article was published in The Scientist, Magazine of Life Sciences about recent research into Ichthyosis Vulgaris. It is more common than you think! The article titled ‘The Allergy Gene’-How a mutation in a skin protein revealed a link between eczema and asthma. Many patients with Ichthyosis Vulgaris may also have Eczema and asthma. Click […]

2011 Ichthyosis Support Group/British Skin Foundation Small Grant

2011 British Skin Foundation / Ichthyosis Support Group Small Grant The Ichthyosis Support Group is delighted to have teamed up with the British Skin Foundation to award a joint grant of £10,000 for 2011 towards research into ichthyosis. Applications for this award are now closed. More information about the recipient of this award will be […]

Current research projects

X Linked Study Birmingham The University of Birmingham and Birmingham Children’s Hospital have jointly set up a research study in boys and men, aged 6 to 30 years, with X-linked recessive ichthyosis (XLI). People with XLI lack steroid sulfatase, a substance with a role in the skin and also in the production of certain hormones. […]

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ISG Research Grants

The ISG awards funding of £5000 annually to ichthyosis related research. Updates for these projects can be found in individual posts about each of the projects, or alternatively click here. The following explains where these grants have previously been awarded and how they will be used to help research projects. Understanding why ichthyosis skin is […]

Previous research projects

Articles below available to view or download. Vulgaris gene found information sheet

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