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Förslaget inkom 2003-04-29

Modern Approaches to Finding Genes that Cause Alzheimer´s Disease and Parkinson´s Disease

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This project entails working with the latest in genomics technologies, particularly systems for genome variation analysis, to explore the genetic etiology underlying Alzheimer´s Disease and Parkinson´s Disease.

Alzheimer´s Disease (AD) and Parkinson´s Disease (PD) are horrific illnesses that rob a sufferer of all intellectual capacity, movement control, and self-dignity. A few genes are known that cause or contribute to these pathologies (e.g. Amyloid Precursor Protein, presenilin-1, presenilin-2, and ApoE4), but the primary etiologies are mostly unknown. Many more AD/PD-causing genes therefore remain to be discovered. By using forefront molecular genetic techniques, we are searching for ´normal´ gene variations that are noticeably enriched in AD and PD individuals, indicating a role in disease causation. The ultimate goal is treatment and prevention of these diseases. Candidate genes we are testing include
i) controlling factors for apoptosis (genetically programmed cell death as found in dementia),
ii) genes for metabolic and oxidative stress,
iii) factors related to tissue inflammation, and iv) genes in chromosomal regions previously linked to the disorders. To study so many candidate genes we are using state-of-the-art robotic devices and large-scale polymorphism screening procedures.
Bioinformatics and genome databases play a large part in this activity. Two major AD risk genes have recently been discovered and reported by our ongoing analyses, and two further genes of likely relevance are now being studied in detail. The project will entail contributing to these research endeavors, thereby learning about the latest technologies, strategies, and problems associated with the analysis of complex disease genetics.


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