(We welcome David Bradley Science Writer as our guest blogger. Thanks, David!)
Pharmaceutical research and development has improved our quality of life and boosted life expectancy significantly over the last few decades.
We are living longer, healthier lives thanks to medical science. Although there are concerns about drug resistance and so-called superbugs, vaccination, antibiotics and antiviral drugs are incredibly successful at keeping diseases at bay and reducing significantly the risk of death from infection following a surgical operation.
In addition, important medical advances have made cancer treatable and reduced the risk of dying from heart disease significantly. The emergence of diseases of old age, such as Alzheimer’s disease, reflect not a failure on the part of medicine, but the fact that so many people reach old age rather than dying young of the illnesses to which our ancestors succumbed for lack of medicine.
There remain, nevertheless, many lesser-known and rare diseases for which there are no treatments. The US Rare Diseases Act of 2002 defined rare diseases based on prevalence. Any condition afflicting fewer than 200,000 people in the US (about 1 in 1,500) was labeled rare.
The Europeans by contrast defined these diseases based on how much of a threat to life they represent. Whatever the definition, the pharmaceutical industry is beginning to home in on these rare diseases, which is obviously good news for sufferers.
Orphanet, which as the name might suggest is an online portal for information about rare diseases and orphan drugs, suggests that, “There is no disease so rare that it does not deserve attention.”
Moreover, just because a disease is labeled rare does not mean that there are not large numbers of people affected. There might be 10,000 patients with any given “rare” disease in the US alone. The numbers might be in the millions if we consider worldwide incidence.
Orphanet’s Segolene Ayme told me: “The true prevalence of rare diseases is unknown, there is no source of data at population level.” In fact, the data are often skewed towards more conservative estimates of disease incidence, although for some genetic diseases, the numbers may truly amount to a few dozen people rather than tens of thousands.
The list of rare diseases is vast and continues to grow as new health problems are identified for the first time as distinct diseases and disorders. On that growing list are Aarskog syndrome, Gaucher’s disease, tyrosinemia type 1, Kahler’s disease, Q fever, Takayasu arteritis , Waardenburg anophthalmia syndrome and Zygomycosis.
Andreas Zaby of the Berlin School of Economics and Law, in Germany, has analysed the impact of legislation aimed at stimulating R&D into these and other diseases. He says there is a great deal of room for improvement in addressing the problem of rare diseases and suggests that the creation of expert networks could help. He adds that specialist care facilities and reference centers for research and treatment are urgently needed if medicine in these areas is to move forward.
Coordination by the World Health Organization could be the answer to helping medical science tackle a vast range of diseases, each of which afflicts a limited number of people but taken as a whole cause misery and suffering for millions worldwide.
Rare Disease Day is 29 February. Let’s all make some noise for those who are too often ignored.
Image courtesy of rarediseaseday.org
