Human protein-coding genes number from 20,000 up to 25,000. If just one of these genes gets altered or a code gets missing, it can be fatal to an individual. In fact, approximately 30 per cent of infant mortality at birth in developed countries are caused by genetic disease. Almost 50 per cent of all miscarriages worldwide are due to chromosomally defective fetus. Furthermore, according to the World Health Organization, over 10,000 human diseases are linked to single gene mutation alone. Among these monogenic diseases are thalassaemia, sickle cell anemia, haemophilia, Fragile-X syndrome, cystic fibrosis, and Huntingtons disease. The other two major types of genetic disorders are chromosomal and complex disorder, where theres mutation in two or more genes. Genetic disease is not also simply inherited, our environment is another factor that can trigger mutation. Cancer, diabetes, and heart disease are classified as multifactorial inheritance genetic disorders. Considering all these, one would expect that the world will be welcoming the revolutionary gene therapy with wide-open arms. Yet, UniQures Glybera has been recently withdrawn from the European market in spite of its promising one-time cure for lipoprotein lipase deficiency (LPLD). LPLD is a rare genetic disorder characterized by the bodys lack of … Continue reading →

Researchers from the University of Chicago have successfully completed a proof-of-concept studywhere they managed to treat obesity in mice using a new type of gene therapy that utilized skin transplants. Human skin transplantation is a well-established clinical approach that has been used for the treatment of burns. However, using it as a vehicle to deliver genetic treatments for non-skin diseases could be revolutionary. There are several reasons why skin stem cell therapy can be applicable to a broad type of diseases. The skin is the largest human organ, providing an easy access to cells needed for genetic treatments. The skin enables easy monitoring for potential off-target mutations resulting from the CRISPR intervention, as well as easy removal of such mutations, should they occur. Most importantly, proteins that are secreted by epidermal cells can reach the blood circulation and achieve desired therapeutic effects for the entire body. In the study published this month, titledEngineered Epidermal Progenitor Cells Can Correct Diet-Induced Obesity and Diabetes,the scientists genetically engineered skin cells to be able to deliver GLP1 (glucagon-like peptide 1) - a hormone which regulates blood glucose. Then they developed a surgical procedure which allowed them to successfully engraft the new skin onto a … Continue reading →

LONDON, Aug 8 (Reuters) - Gene therapy, which aims to patch faulty genes with working DNA, has been a long time in development. The following are major milestones: 1972 - Researchers first suggest gene therapy as a treatment for genetic diseases but oppose its use in humans "for the foreseeable future", pending greater understanding of the technology. 1990 - A four-year-old girl with severe immunodeficiency became the first patient to undergo gene therapy in the United States. 1999 - American patient Jesse Gelsinger dies following a gene therapy experiment, setting the field back several years as U.S. regulators put some experiments on hold. 2002-03 - Cases of leukaemia are diagnosed in French children undergoing gene therapy in a further blow to the field. 2003 - The world's first gene therapy is approved in China for the treatment of head and neck cancer. 2007 - Doctors carry out the world's first operation using gene therapy to treat a serious sight disorder caused by a genetic defect. 2012 - Europe approves Glybera, the first gene therapy in a Western market, for an ultra-rare blood disorder. 2016 - Europe approves Strimvelis for a very rare type of immunodeficiency. 2017 or 2018 - The … Continue reading →