"Learn from the Rare"
In a letter he wrote on 24 April 1657, William Harvey (1578-1657), the famous English physician who was the first to accurately describe the blood circulation, highlighted the important role rare diseases are playing in medical progress: “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature, by the careful investigation of cases of rarer forms of disease.” (Willis R. The works of William Harvey, M. D..1847;616-617.)
It has since been confirmed many times that there is a lot to be learned from research on rare diseases and rare cancers. For example, research on Fanconi anaemia has provided insights into disease mechanisms of bone marrow failure, cancer, and the resistance to chemotherapy. (N Engl J Med. 2010 May 20;362(20):1909-19.)
Research on Wilms’ tumour, a rare paediatric cancer, has been referred to as a “model” for understanding the genetics, epigenetics, and molecular biology of paediatric cancers and cancers generally. (Methods Mol Biol. 2003;222:239-48.)
The development of imatinib for the treatment of chronic myeloid leukaemia (CML), seminoma, and gastrointestinal stromal tumour (GIST) has set “a new paradigm for the treatment of cancer with molecularly targeted therapies” (Curr Opin Cell Biol. 2009 Apr;21(2):288-95. Epub 2009 Feb 11.) and has prompted a lot of additional research on tyrosine kinase inhibitors. (Curr Pharm Des. 2009;15(2):120-33.)
Another example is the world’s largest release of comprehensive human cancer genome data for free access by the global scientific community, announced on 29 May 2012 by the St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project. The amount of information released more than doubles the volume of high-coverage, whole genome data currently available from all human genome sources combined. This information is valuable not just to cancer researchers, but also to scientists studying almost any disease. For more information, click here.
Researchers at the U.S. National Institutes of Health (NIH), who analysed the tissue of patients affected by paraganglioma, a rare endocrine tumour, recently discovered a genetic mutation that appears to increase the production of red blood cells in tumours. This finding may have an impact on the understanding and treatment of several other cancers. For more information, visit the NIH Website.
It is well understood that most research funding goes into the most common cancers (breast, colon, lung and prostate) and that more patients will be represented in clinical studies in the field of common cancers than in rare cancers. It would therefore be rational to anticipate that the most significant therapeutic advances are made in common cancers. However, a recent study reports that novel cancer treatments have their most striking effects in rare cancers, suggesting that “only by stratifying the common tumours, especially when using targeted agents, into the molecular subsets of diseases that compose them are we likely to achieve a substantial effect in these disorders.” (Mol Cancer Ther 2007;6:1175-1179.)