At the University of California in San Francisco, one of the biggest ever studies into the nature of epilepsy and the management of the condition is about to take place, with 4,000 subjects involved in a major planned study.
Focused entirely on the United Sates initially, the DNA codes and medical histories of patients will be carefully scrutinized, in an effort to understand how the condition works and how it can be best managed for both patients and families. The condition is now so widespread; it affects people worldwide in their millions, with two million sufferers in the United States alone.
The University has long been respected as a major center for research and treatment for epilepsy, and is lucky to have some innovative technology at its disposal, with departments in neurology and neurosurgery to rival the best on the planet.
The national Institute of Neurological Disorders and Stroke has funded the new study with a generous grant of $25 million. The study will come soon after the development of another similar undertaking, known simply as the Epilepsy Phenome/Genome Project. Daniel Lowenstein directs work at the university and the Phenome/Genome project is something he is heavily involved in. The Phenome/Genome project is extensive, collecting data and information from families of sufferers as well as the sufferers themselves. Over 5000 people are involved in the project.
The new project will use DNA from a large group of people too, and will also use cutting edge techniques to help move the research forward. One of the main aims is to find out why epilepsy treatments work well with one person and perhaps not so well with another.
Epilepsy is a huge problem worldwide, and while it may not be a fatal problem it is still something that can be extremely challenging.
The originator of modern medicine, Hippocrates, described it in detail in his own writings around 2,500 years ago, and ever since then the condition has gradually come to be better understood. The word ‘epilepsy’ itself means ‘seizure’ in Greek, and while it is true that some of the symptoms, such as convulsions, are common to other conditions, epilepsy sufferers are unfortunate enough to have these conditions on a recurring basis.
Lowenstein and his team have one main concern, and that is that epilepsy does not seem to arise from one single mutant gene. This means that the answer must lie with a combination of factors, and his research is aimed at delving deeper into this phenomenon.
There are two sectors the team are interested in. The first is where the epilepsy generates in early childhood, and is the one often associated with developmental disorders as the child grows. Because this is not inherited, the comparison between the genes of the child and the parent should yield results that help identify problem genetic code.
The second group is much more complex. Here the genes are inherited, but they are still, obviously, unique to the person. Going through all of the thousands of different permutations in this sector is going to be a challenge that Lowenstein and his team are looking forward to.
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