The Yáñez Advanced Gene and Cell Therapy laboratory (AGCTlab) works on gene and cell therapy for common and rare diseases. The main interest of the AGCTlab is in the development of safer methods relying on either episomal vectors or genome surgery (genome editing or gene repair). Dr Yáñez’s research team is particularly interested in the treatment of spinal muscular dystrophy, spinal injury (both of which are rare diseases) and Parkinson’s disease. Using genome surgery the research team are developing treatments for the rare primary immunodeficiencies Duchenne muscular dystrophy and spinal muscle atrophy.
You can find out more about the methods Dr Yáñez applies on his research profile.
Rare diseases are central to Dr Yáñez’s work. 3,000 people in England alone will be affected by a rare disease in their lifetime. That’s because, even though each rare disease affects fewer than one in 2,000 people, there are 6,000 to 8,000 rare diseases. At least 20 per cent of the health budget will go to look after these patients, mostly providing symptomatic and palliative care, because there are hardly any curative treatments.
There is finally widespread understanding of the importance of rare diseases with countries developing Rare Disease National Plans (see the recently published UK National Strategy for Rare Diseases, which will provide the basis for the National Plans in the UK). International collaboration, always important in research but critical for rare diseases, has created the International Rare Disease Research Consortium (IRDiRC), with declared goals of developing diagnostic methods for most rare diseases and treatments for 200 of them by 2020. Gene and stem cell therapy research has also provided some curative treatments, with many more in the pipeline.
However, it still takes five years for some people to be properly diagnosed, the care for most individuals affected is far from optimal, and in most cases there is no curative treatment. Raising awareness is critical, which is the goal of our annual international Rare Disease Day, held on the last day of February (on a leap year it’s a rare day!) This event is organised by Dr Yáñez.
Rare Disease Day
BBC5 live interview podcast on Genome Editing
Video podcast interview on Gene and Cell Therapy