Cracking the code of one of the world’s most mysterious diseases

In 2006, it was estimated that nearly 27 million people worldwide suffered from Alzheimer's disease. The rising life expectancy of the worldwide population means that these statistics will only grow in future years as predictions indicate that by the year 2050, one in every 85 people will suffer from the disease.

Inventor Christine van Broeckhoven's work has been instrumental in understanding neurodegenerative diseases like Alzheimer's. For her extensive work in the field of neuropathological medicine, she has been nominated in the Research category of the 2011 European Inventor Award. The award will be presented on 19 May at a ceremony in Budapest.

The Belgian inventor is being honoured for her work, which has not only opened insights into why Alzheimer's may develop in some individuals and not others, but has also shaped overall R&D activities in the field. Her research has specifically generated ten patents on different genes and protein products now being used in the development of new treatments for neurodegenerative brain diseases like Alzheimer's, Parkinson's and bipolar disorder.

With the market for drugs to combat Alzheimer's predicted to be worth $13.3 billion in 2019 in the United States, France, Germany, Italy, Spain, the United Kingdom and Japan, her research not only has a benefit to all those suffering from the disease, but it also potentially translates into promising business.

Unravelling a "complex" disease

Starting in the 1980s, the genetics field began to shift its focus toward so-called "complex" diseases. Previously researchers and geneticists had worked primarily in the area of "simple diseases," or diseases that are believed to be caused by one single gene. In contrast, diseases like Alzheimer's are multi-factorial with several genes and chromosomes involved.

At the same time that scientists began to research more complex diseases, van Broeckhoven was finishing her thesis on the genetics of metabolic disorders. Her career path took a very different turn after she visited the "brain room" at the provincial Institute for Hygiene in Antwerp. After seeing this room, which contained preserved brains in jars, she decided to work specifically with Alzheimer's disease research: 

"The first time I entered that room, I had this feeling that all these people were still in that room, "she said. "It made me realise that the brain really is what human beings are. I made the decision. I was going to work on Alzheimer's disease, and I'm going to work on the brain."

Breaking new ground

In the late 1980s and early 1990s, van Broeckhoven and her team found a small number of families in Flanders and in Austria all with increased occurrences of an early onset of dementia. They began working with these families, tracing family members and studying their DNA to try and discover reasons for a possible predisposition for the disease. This experience led to her development of a research methodology based on finding specific "disease genes" in samples.

Using this technique, van Broeckhoven noticed that people with Down's syndrome developed similar amyloid plaques as those in Alzheimer's patients.

In her next endeavour, she focused her research on chromosome 21 and discovered a mutation in the Flemish and Austrian amyloid precursor genes on that chromosome  in Alzheimer's patients. This mutation causes the proteins to aggregate in the brain.

Besides these advances, van Broeckhoven and her team were also able to identify progranulin as another common gene for frontal temporal lobar degeneration, a disease in which the dominant loss-of-function mutations result in neurodegeneration. Additionally, they were able to show that genetic and clinical heterogeneity with progranulin contributes not only to frontal temporal lobar degeneration, but Alzheimer's, Parkinson's and amyotrophic lateral sclerosis as well.

Each of the genes and proteins that van Broeckhoven has identified acts as potential "target" for researchers developing treatments for these neurodegenerative diseases.

Implementing the research into the market 

Broeckhoven conducts research at the Vlaams Institut voor Biotechnologie (VIB), where 1 200 scientists from over 60 countries research the molecular foundations of life.

Her team's research has opened up possibilities in three different markets: the global therapeutics market for Alzheimer's, the market for Alzheimer's disease drugs and the neurodegenerative market. 

The therapeutics market for Alzheimer's worldwide was an estimated $7.1 billion in 2009. It is expected to drop to $5.2 billion by 2017 while maintaining a 4% Compound Annual Growth Rate. In 2009, the market for Alzheimer's disease drugs was approximately $4.3 billion. Meanwhile, the market value for the neurodegenerative market reached over $16 billion in 2006 and is expected to surpass $18 billion in 2017. Specifically regarding drugs, the world market for neurodegenerative drugs is predicted to exceed $43.4 billion by 2015.

Throughout all of these markets, there are currently more than 300 different compounds at various stages of development for the treatment of Alzheimer's.

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