In part due to this web site I receive numerous inquiries about cartilage repair in unique circumstances- for example, various genetic diseases. The end result of many of these diseases emulates osteoarthritis in terms of the X-ray appearance, but it is obvious that the causal factors may be different. Recently this was the case with a patient who had a disorder affecting the growth plates of the bones, hence the cartilage. It is always difficult to advise someone looking for treatment under such circumstances, because the sum total of medical experience for such patients may be zero.
Nevertheless, a method for going forward may be evolving. We have done some work on gene and protein expression (see the curriculum vitae section of this web site) sufficient to make clear that cartilage abnormalities in disease are numerous and not simple. Very soon, we will be able at modest cost to obtain genomic information on any person (see www.pacificbiosciences.com ) and hopefully to analyze that information. When I say hopefully, the concern is that so much information is produced it becomes very difficult to sort through it all and make legitimate conclusions. This information may make possible the era of personalized medicine, where treatments are actually based upon the specific person and not just the patient as a member of a group- say, the group with “diabetes” or “breast cancer”. The hope is- as yet unproven- that specific treatment will provide better outcomes.
A recent effort at cancer treatment using similar methods has not worked out at all, so this is not a slam dunk. But for genetic diseases, suppose we know the mutation(s), then what? The technology to correct mistakes in DNA has been worked out (see www.sangamo.com) and is presently being used in a trial for HIV treatment. It is not unrealistic to believe that this technology could be used to repair all sorts of DNA mistakes, including those that produce abnormal cartilage.
Application may be decades away. But the first step- that of finding out the abnormalities in DNA- is far closer. So before we hype the era of personalized medicine, lets get some more information, lets find out our own gene sequences. The price should be around $1000 pretty soon. The task of interpreting this information is left to another post.