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More public attention for exotic diseases - Part 1

Some diseases are so rare that only sufferers or specialists know about them. Patients with diseases that affect a significantly smaller percentage of the population than diabetes or Alzheimer’s disease are battling alongside medical doctors and scientists to encourage wider interest in these rare diseases from the public, the pharmaceutical industry and government. An international conference on rare diseases was held in Freiburg (Germany) in February 2012, where BIOPRO Baden-Württemberg talked with Prof. Dr. Bodo Grimbacher, director of the Centre of Chronic Immunodeficiency (CCI) in Freiburg, and Prof. Dr. Maximilian Muenke, paediatrician and human geneticist from the National Human Genome Research Institute (NHGRI) in the USA. Between them, the two experts have a great deal of experience in rare diseases amongst other areas. Read in the first part of the interview what rare diseases are and how research is financed in this field.

Prof. Dr. Bodo Grimbacher © private

Professor Grimbacher, what is the definition of a rare disease?

Grimbacher: There is no single definition for a rare disease. In the United States, the Rare Disease Act of 2002 and the US Orphan Drug Act of 1983 define a rare disease as “any disease or condition that affects less than 200,000 individuals in the United States", or around one in 1,500 people. The European Commission defines rare diseases as “life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them”, and this refers to diseases that affect fewer than one in 2,000 people. In my laboratory, we focus on diseases that affect the human immune system. I am looking for genes that cause immunodeficiency, autoimmunity or dysregulate inflammation. Numerous diseases can arise from genetic disorders in the 23,000 or so known human genes. Around 6,000 diseases are now recognised as a “rare disease”.

In your lecture, you made it clear that the immune system disorders you are investigating can be the result of complex genetic defects.  I got the impression that you are desperately looking for patients in order to be able to investigate the genetic defects underlying a certain disease. I believe that you are specifically interested in families from Algeria, Iran and South America. What problems are scientists working on rare diseases faced with?

Grimbacher: Researchers with a special interest in diabetes can do their research in Germany. Diabetes affects a large number of people in Germany as elsewhere, so sufficient numbers of patients are available for research into different aspects of diabetes. Researchers working on a rare disease need to go beyond their national borders and work with researchers from all over the world. This is rather difficult, as it is not just a case of encouraging sufficient institutes to participate. Researchers also have to deal with ethics commissions.

Let me give you an example: one of my colleagues at the National Institutes of Health (NIH) wanted to involve an Iranian family in our investigations. He was unable to do so for political reasons and required a special permit from the NIH that allowed him to work with Iranian colleagues. Since then, a couple of papers have been jointly published by American and Iranian doctors and scientists, and we are currently working on a paper in which we plan to publish data from Israeli and Iranian families. This is standard practice nowadays, but back in 2005 American scientists were not allowed to travel to Iran to take part in scientific conferences. In addition to problems like these, we also experience logistic problems. It takes at least 72 hours to transport fresh cells from Iran to Germany or London. When the cells arrive, they are too old to be used for certain experiments. Another frequent headache when we try to publish our findings is the fact that nobody recognises that the diseases we are dealing with are so rare. Colleagues who review the papers usually ask why we have only used two people for our experiments rather than all patients who carry a particular mutation.

Professor Muenke, you are a paediatrician and human geneticist working in the US. Your laboratory studies the genetics of normal and abnormal brain development. What is the financial situation regarding this type of research in the States?

Prof. Dr. Maximilian Muenke © private

Muenke: I am working at the National Institutes of Health, and can therefore apply for external project funding as well as for funding through the NIH. This means that I have to apply for NIH funds once every four years, which will then pay for salaries, laboratory material and equipment for a period of four years. When I apply I always decide which projects I want to finance with the NIH funds, and of course this includes deciding whether I want to spend some of the money on research into rare diseases. Researchers from American universities can also apply for NIH funds, but this doesn’t cover the entire budget, which is why researchers in those universities have to apply for funding from third-party investors like the Howard Hughes Medical Institute.

How are things in Germany and Europe?

Grimbacher: Quite a large number of investors, including private sector investors, are willing to fund research into diabetes or coronary heart disease. It is also relatively easy to get a programme on cancer funded by foundations whereas this is not the case for a programme on rare diseases. Acquiring funds for research into rare diseases is a big problem. In order to redress this balance, the EU has decided to focus on frequent diseases, whilst also providing funds for research into rare diseases. Over the last few years, the German Federal Ministry of Education and Research has spent more money on rare disease research than before. And other European countries have similar practices. It goes without saying that we are very grateful for this.

Part 2 of the interview

Further information:

Prof. Dr. Bodo Grimbacher
Scientific Director
Freiburg University Medical Centre
CCI - Centre of Chronic Immunodeficiency
Engesserstr. 4
79108 Freiburg
Tel.: +49 (0)761/ 270 - 77731

Prof. Dr. Maximilian Muenke
National Human Genome Research Institute
National Institutes of Health
35 Convent Drive, Building 35
Bethesda, MD 20892-3717
Tel.: +1-301-402-8167
FAX: +1-301-496-7184
E-mail: mamuenke(at)mail.nih.gov
Web: www.genome.gov/Staff/Muenke

Website address: https://www.gesundheitsindustrie-bw.de/en/article/news/more-public-attention-for-exotic-diseases-part-1