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Probing the Genetics of PD

Dr. Juliette Harris of Columbia Presbyterian Medical Center in New York has drawn on her experiences as the coordinator of genetic studies of PD to provide to the readers of the PDF News an overview of the genetic aspects of Parkinsonís and of how people and their families can help in the study of this new and enlightening field.

In her article, she reminds us that our health is due to both our genetic make-up and our bodyís environment (for example, external chemicals and hormones). Many of us are born with subtle genetic changes that may predispose us to developing a disease Ė just as they play an important role in determining height.

However, having a genetic predisposition to a disease does not necessarily result in developing that disease. Rather, for most of the common diseases, including P, in most cases of PD, there needs to be a precise combination of factors, both genetic and environmental, for the disease to manifest itself.

Researchers believe that, for most people with PD, the genetic contribution to development of their condition is small even when they have a close family relative (a parent or sibling) who have (or had) PD . Specifically, researchers have shown in a community-based study that the lifetime risk of PD in a parent or a sibling of an individual with PD is approximately 2%. This compares to a life-time risk of PD of 1% in a parent or sibling of an individual who does not have PD Ė a small risk in genetic terms.

How can an individual with PD, along with his or her family, participate in the research that will play such a large role in the identification of the cause and perhaps the approach to treatment of the disease? The answer is simple. If you have or someone you know has PD and would be willing to help these research efforts, contact the PDF office for a copy of our most recent newsletter to review the descriptions of four ongoing PD genetic studies. Participation normally consists of a maximum of two hours and involves the donation of a blood sample, completion of a questionnaire including family history, and a neurologic exam. Some studies also require access to medical information and a telephone interview.

Research studies are not the same as genetic testing. If you decide to participate, you will NOT receive any genetic information about yourself or your family. (editorís note: the aims of these studies are to increase our knowledge about the general cause of PD, rather than discover individual causes of PD). All information about participants in the study remains confidential and neither insurance companies, nor any other person (including other family members) will have access to the information now or in the future. Genetic studies are not considered genetic testing and therefore cannot be used now or in the future by insurance companies to deny coverage to applicants.

For a complete copy of this essay along with the descriptions of the current genetic studies, please contact the PDF office for a copy of the Spring 2001 PDF News.

Our thanks is extended to Dr. Harris for her time and expertise in making this information both understandable and available to our readers.

Source Date: May 14 2001