Progress we have made: A Genetic Study of Siblings with Parkinson's Disease, Boston University School of Medicine

GenePD

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Progress of GenePD

Progress Report
The GenePD study was initiated in September of 1997, and was renewed for five years of funding on August 1, 2002. Over the past four years, we have collected 293 PD affected sibling pairs, and 38 affected parent-offspring pairs. Our long-term goal is to collect an additional 400 PD affected sibling pairs over the next five years. There is strong evidence that there may be several different genes that contribute to the risk for Parkinson’s disease. In order to locate these genes a large sample of sibling pairs is needed, so that we can be confident that we have a representation of all the different genes that are involved.

If you should be a member of a sibling pair, your participation in the project is very important and very much appreciated.

Our research has identified several chromosomal regions that appear to carry genes that influence the risk for Parkinson’s disease. One of these on the long arm of chromosome 9 is a region that was confirmed in a study performed by investigators at Duke University. A second region that identified that may influence the age at which a person develops PD is on the short arm of chromosome 2. This region has also been implicated in a study of three German / Dutch families. Our current research focuses on identifying the specific genes located in these regions that may influence the risk for Parkinson’s disease.

In other studies, we have sought to identify risk factors for developing Parkinson’s disease. In these studies, we have identified several factors that influence the age at which the illness is first expressed. These include evidence that head trauma is related to a younger age at onset, while drinking coffee, smoking cigarettes, and taking multivitamins are related to an older age at onset. We are examining whether there may be genetic factors that interact with these risk factors in the risk for PD.

Publications
1. Taylor CA, Saint-Hilaire MH, Cupples LA, Thomas CA, Burchard, AE, Feldman RG, Myers RH. Environmental, Medical and Family History Risk Factors for Parkinson's Disease: A New-England Based Case-control Study. American Journal of Medical Genetics: Neuropsychiatric Genetics 1999; 88:742-749.

2. Joost O, Taylor CA, Thomas CA, Cupples LA, Saint-Hilaire MH, Feldman RG, Baldwin CT, Myers RH. Absence of effect of seven functional mutations in the CYP2D6 gene in Parkinson’s disease. Movement Disorders 1999; 14:590-595.

3. DeStefano AL, Golbe LI, Mark M, Lazzarini AM, Maher NE, Saint-Hilaire MH, Feldman RG, Guttman M, Watts RL, Suchowersky O, Lafontaine AL, Labelle N, Lew MF, Waters CH, Growdon JH, Singer C, Currie LJ, Wooten GF, Vieregge P, Pramstaller PP, Klein C, Hubble JP, Stacy M, Montgomery E, MacDonald ME, Gusella JF, Myers RH. Genome-wide scan for Parkinson’s Disease: The GenePD Study. Neurology 2001; 57:1124-1126.

4. Myers RH, Cupples LA, Taylor CA, Saint-Hilaire MH, Auerbach S, Feldman RG, Farrer LA. The genetic component in Parkinson’s disease is half that of Alzheimer’s disease. Alzheimer’s Reports 2001; 4:9-15.

5. Maher NE, Golbe LI, Lazzarini AM, Mark MH, Currie LJ, Wooten GF, Saint-Hilaire M, Wilk JB, Volcjak J, Maher JE, Feldman RG, Guttman M, Lew M, Schuman S, Suchowersky O, Lafontaine AL, Labelle N, Vieregge P, Pramstaller PP, Klein C, Hubble J, Reider C, Growdon J, Watts R, Montgomery E, Baker K, Singer C, Stacy M, Myers RH. Epidemiologic Study of 203 Sibling Pairs with Parkinson’s Disease: The GenePD Study. Neurology 2002; 58:79-84.

6. DeStefano AL, Lew MF, Golbe LI, Mark MH, Lazzarini AM, Guttman M, Montgomery E, Waters CH, Singer C, Watts RL, Currie LJ, Wooten GF, Maher NE, Wilk JB, Sullivan K, Slater KM, Saint-Hilaire MH, Feldman RG, Suchowersky O, Lafontaine AL, Labelle N, Growdon JH, Vieregge P, Pramstaller PP, Klein C, Stacy M, Hubble JP, Reider C, MacDonald ME, Gusella JF, Myers RH. PARK3 influences Parkinson's disease Onset Age: A Genome Scan in The GenePD Study. American Journal of Human Genetics 2002; 70:1089-1095.

7. Maher NE, Currie LJ, Lazzarini AM, Wilk JB, Taylor CA, Saint-Hilaire MH, Feldman RG, Golbe LI, Wooten GF, Myers RH. A segregation analysis of Parkinson Disease revealing evidence for a major causative gene. American Journal of Medical Genetics 2002; 109:191-197.