ISSN: ISSN: 2157-7412
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TriStem Corp Ltd, UK
Scientific Tracks Abstracts: J Genet Syndr Gene Ther
Mutation in type VII collagen coded by COL7A1 gene causes mechanical stress-induced skin blistering in the rare disease dystrophica epidermolysis. Dysfunctional collagen VII causes blistering below the lamina densa causing intractable ulcers , scarring malnutrition and cancer due to mucocutaneous fragility. For example scarring in the mouth and oesophagus can make it difficult to eat leading to slow growth . Individual with this condition have a high risk of developing fatal skin cancer called squamous cell carcinoma. DEB is generally classified according to inheritance mode and level of expression of collagen VII . The severest form is generalised recessive DEB (RDEB, generalised severe) due to absence or marked decrease in collagen VII expression. There is no cure for this condition and treatment involves prevention of blister and managing symptoms. Allogeneic stem cell transplant from a fully matched healthy donor or a sibling is an attractive option, however, immunosuppression and myeloabalation remain a risk factors. Herein the treatment of one patient with RDEB using retrodifferentiated stem cells obtained from a healthy sibling is discussed without the use of any conditioning regimen.
Ilham Saleh Abuljadayel: discovered the process of retrodifferentiation in the early nineties. This direct reprogramming of differentiated somatic cells is achieved through cell surface receptor contact of more mature adult human cells such as leucocytes. She was awarded worldwide patents on the methodology and device, enabling the production of unprecedented levels of pluripotent stem cells from differentiated cells. Based on her research, Dr. Abuljadayel co-founded the TriStem Group. During the period 1990 to 1995, Dr Abuljadayel worked as a consultant immunologist at the King Fahd Armed Forces Hospital in Jeddah, and from 1996- 2000 headed the TriStem Research on retrodifferentiation at the London Hospital, Kings College, Downing College University of Cambridge and Addenbrooke Hospital. In 2000 Dr Abuljadayel performed the first preclinical study on the functional utility of the autologous retrodifferentiated stem cells in collaboration with the George Washington Medical centre, USA, in two animal models of human diseases. From 2003 to 2005 Dr Abuljadayel in a clinical human trial, applied the autologous retrodifferentiated stem cell therapy in aplastic anemia and beta thalassemia-major in collaboration with the Indian Council of Medical Research and the Pakistan Medical Research Council, respectively. She currently resides in the UK and remains the head of research for clinical application of the autologous retrodifferentiated stem cell therapy in haematological and degenerative diseases.