We are excited we could verify results from our Proof-of-Concept study conducted in 2015 (Witting et al.
Pure edge protein skin#
For our tests we used artificial 3D skin model system, as this replaces all animal tests and minimises the use of animals in our research. We have recently been able to show that replacing this missing or faulty protein by Protein-Replacement-Therapy” restores the skin condition fully. New treatment ideas for ARCI - Protein Replacement Therapy (PRT)
Depending on skin colour of skin sample donor, we can adapt the skin colour of the 3D skin model accordingly. Patient skin is different, depending on the underlying genetic cause of the disease – we can simulate these differences in our 3D skin models. We believe in the reduction of use of animals in research and have established an alternative drug test method replacing animals: We generated full-thickness 3D skin models which mimic the skin of ARCI patients both, genetically and functionally. Our research would not be possible without skin samples donated by healthy volunteer and all the many ichthyosis patients - We are extremely grateful for these skin sample donations and the support we receive from patients for our research. The skin is the largest organ of the human body – how does it work?Īn introduction to the biology of the skin, rare genetic skin diseases and their current treatment options is summarised in the document “The Biology of the Skin”, which can be found here This results in a missing or faulty protein (Tgase-1) in the outmost layer of the skin (epidermis), thus explaining the scaly skin phenotype of these patients. Interestingly, more than 30% of all patients show mutations in the gene TGM1. ARCI is a clinically and genetically heterogeneous condition and mutations in 14 different genes are known to cause this disease. It is life-long condition with currently only limited and not sufficient therapy options. One of our main interests is topical drug development for autosomal recessive congenital ichthyosis (ARCI), a very are condition which affects roughly 800 persons in the UK. Our most recent project focuses on plant suspension cell culture bioprocessing using bench-size bioreactors.Īutosomal Recessive Congenital Ichthyosis (ARCI) Furthermore, we are interested in new pipelines to generate human recombinant proteins required for protein replacement therapy. In collaboration with clinical partners we seek to unravel and functionally understand new genes for congenital ichthyosis. We seek to understand the cause of these diseases, study differences in skin function and develop new patient-specific therapeutics. My research group is interested in rare, genetic diseases which affect the epidermis. I have been appointed Senior Lecturer at Edge Hill University in November 2015.ĭermatogenetics Research Group - Understanding the Biology of the Skin I have awarded various travel grants to visit (intnernational) research laboratories in Tel Aviv, London, Vienna, Berlin and Münster in the past years. I concluded this work in 2006 (papers published in 20) and was awarded a PhD in genetics.įrom 2006 to 2011 I held postdoc, senior postdoc and research fellow posts in Germany, before I have been appointed Senior Resarch Fellow at the Medical University in Innsbruck, Austria (Dept for Human Genetics) from 2012 to 2015. I conducted my PhD research in Berlin (Max Delbrück Centre) and later at the University of Cologne (Cologne Center for Genomics), focusing on the molecular and functional characterisation of Congenital Ichthyosis. My final year project (thesis) was conducted at the Max Delbrück Centre for Molecular Medicine - I studied the very rare genetic skin condition Mal de Meleda (published 20). It does not store any personal data.I have graduated in Biochemistry (Dipl.-Biochem - MSc) from the Freie Universtät Berlin (Germany). The cookie is set by the GDPR Cookie Consent plugin and is used to store whether or not user has consented to the use of cookies. The cookie is used to store the user consent for the cookies in the category "Performance". This cookie is set by GDPR Cookie Consent plugin. The cookie is used to store the user consent for the cookies in the category "Other. The cookies is used to store the user consent for the cookies in the category "Necessary". The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional". The cookie is used to store the user consent for the cookies in the category "Analytics". These cookies ensure basic functionalities and security features of the website, anonymously.
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