The Johns Hopkins Study For Schizophrenia
I joined the Johns Hopkins University Epidemiology-Genetics program study through an advertisement they posted on www.centerwatch.com. As I joined the study I knew that they were testing for the genetic causes of schizophrenia, and that the lead researcher Dr. Ann Pulver had written or co-written many articles on the genetics of schizophrenia. I did not know that they would publish a very informative newsletter to keep the study participants up to date with their work, and they are also studying the biological basis for bipolar disorder. Their stated goal for their genetic family study from their fifth newsletter is "To determine the biological basis for schizophrenia and bipolar disorder, so that improved treatments can be developed."
It seems that since 1983 they have enrolled over 6,000 individuals into this study. The focus of their current study comprises of Ashkenazi Jewish individuals who have schizophrenia, bipolar disorder, or schizoaffective disorder. The reason that Dr. Pulver has selected the Ashkenazi Jewish population is "... because the population has a more homogeneous (or similar) bloodline than the general population." This makes genetic analysis a bit easier. They will continue to enroll Ashkenazi Jewish families for the next 2-3 years. They currently have a total of 375 Ashkenazi Jewish families.
The Human Genome Project';s completion will only aid this study in giving it another tool to work with. The completion of the Human Genome Project, the effort to map human DNA, the basic building block that determines our inherited traits, is likened to the completion of a book. Dr. Pulver's group is only interested in the pages that might make a difference to helping to find treatments for mental illness. They say "We are only interested in the very small portions of the genome book that describe mental illness. Our group is attempting to flip through the genome book to find the portions that describe mental illness, and then to read just those small sections."
The newsletter went through a few important questions that were asked of them regarding their study. Although the Johns Hopkins study is not pursuing a genetic test for mental illness, the good news is they indicate this may occur. The exciting thing about genetic testing is that it could tell you what your risk is and quiet the storm before it strikes. The test raises all sorts of ethical issues, and it probably will never be a simple yes or no test, but it could be used as a tool to prevent even a first break from occurring!
The next question the newsletter answered was, "If risk gene(s) are located, will it be possible to do gene therapy and cure the disorders?" The answer to this question surprised and saddened me because it was a qualified "no." Gene therapy is generally used to turn on or off single genes to cure simple genetic diseases. Mental illnesses are multigenic traits, so finding the genes that cause the mental illness and then turning them off is much more difficult than treating the simple genetic disorders. It is not impossible, but any gene therapy cure for schizophrenia probably will not occur in our lifetimes.
The next question that the newsletter answered was "How will the location of a risk gene allow researchers to develop better treatments?" It seems that currently no one knows the causes of mental illness, so the treatments can only reduce the symptoms of the illness. A more precise knowledge of the causes of mental illness will allow a treatment to be more closely tailored to the disease; hence, fewer side effects and more solid control of the disease. Also, with better understanding of the genetics behind the mental illnesses, doctors will know which medicines work better for which patients and why. Finally, locating risk genes would help because it would help locate what environmental influences may contribute to the expression of the mental illness.
The last important question that the article deals with asks for more information about the role of genes and environment in the causation of schizophrenia and bipolar disorder. It is widely held that genes and environment play a crucial role in the expression of mental illness. It is thought that an individual that expresses mental illness is born with several "risk" genes, and then they may experience some environmental trigger that causes the disorder to develop. It is not known what environmental influences definitely contribute to the expression of mental illness, but it has been hypothesized that birth trauma, head injury, viral infections, drug use, and stress may be pieces in the jigsaw puzzle. Preventing mental illness is likened to preventing heart disease, except the environmental triggers have only been hypothesized and are not known for sure.
To learn more about the Johns Hopkins study, see their website at www.med.jhu.edu/epigen or call their toll-free number 888-289-4095 for more information.