A rare disease is defined by the European Union as one that affects fewer than 5 in 10,000 of the general population. There are between 6,000 and 8,000 known rare diseases, and around five new rare diseases are described in medical literature each week. This event provided an excellent opportunity for the A-Level Biology students to gain an insight into cutting edge research in the fields of gene therapy and stem cell research- from the scientists and clinicians investigating and treating these rare genetic diseases.
It was fascinating to discover the potential societal impact of this research, as human stem cells can be used to: treat heart disease and other degenerative diseases that cause blindness; develop immune-therapeutics for childhood tumours; develop gene therapy for severe childhood genetic disorders, such as Duchene Muscular Dystrophy. However, this potentially monumental research into gene therapy has not been without risk. For example, in the treatment of Severe Combined Immunodeficiency (SCID), twenty boys received treatment, with fifteen surviving a disease that would have caused their death before the age of two years old, but five developed leukemia as a result of treatment, and one boy died.
In between talks, students had the unique chance to discuss and debate topics directly with the researchers. This even included assembling origami viruses which modeled those that are hijacked to deliver therapeutic genes to treat rare conditions.
Overall, it was an incredibly interesting day, with many students excited by the speed at which the field is progressing, and how it has the capacity to change so many lives.