To find these driver mutations, scientists look for the ones that occur frequently. Until recently, this was very difficult to do. However, new sequencing technologies now let scientists look for mutations in genes at an incredible rate. The cost of sequencing is dropping dramatically; to the point where in the near future sequencing the DNA from a cancer may be sequenced as a diagnostic. Soon, it may be the cost of computing that limits our sequencing efforts.

Improvements in technology allow scientists to look at the genomes of many tumors, and there is an international effort to look at 25000 cancer genomes. This will provide the data that will let them find the mutations that lead to cancer, even if they occur in a small proportion of tumors of a particular kind. Already, hundreds of tumors have been studied in detail, which is giving scientists a good feel for the patterns of mutations that happen in cancer cells. So far, over 400 genes directly linked to cancer have been identified in this and other studies. Figuring out how these many genes contribute to cancer is likely to lead to huge advances in diagnosis and treatment, although the task remains gargantuan.

Typically, Alzheimer’s is diagnosed through cognitive testing.  Family members or health care professionals may realize that a person is experiencing forgetfulness, disorientation, or other symptoms. Unfortunately, by the time these symptoms are apparent and a diagnosis is made, the patient may have already experience a great deal of brain damage.

A new method to test for Alzheimer’s at a much earlier stage of the disease has been described in a paper in the journal Neurobiology of Aging, (10.1016/j.neurobiolaging.2010.04.025) where Laurel Beckett et.al. describe  a method of diagnosis based on a combination of imaging and sampling of cerebrospinal fluids to categorize individuals into at-risk groups before clinical signs of Alzheimer’s appear.

This important work could have a two-fold impact on the fight against Alzheimer’s. By identifying at-risk patients early, medical intervention may be able to at least delay the onset of the disease. The early identification of at-risk individual also would accelerate the development of clinical interventions because you have now isolated a population that can participate in clinical investigation and broaden the horizon of time investigators have to work with, increasing the rate at which further discovery can proceed.

Obviously, the earlier individuals have access to information about their health, the longer they have to make appropriate choices. When it comes to mental-health, a properly responsive school environment may be the first place problems can be identified and, if possible mitigated or corrected. The discovery that there are possible early and characteristic differences in scoring on standardized testing, may give crucial warning signs that would allow proper intervention on behalf of affected students, especially those already at higher risk because of a family history of schizophrenia.

The study conducted by Duke University followed 1000 New Zealanders over the course of 30 years, and administered routine standardized testing at age 3, 5, 7, 9, 11, and 13 years of age. By the time study participants had reached 32 years of age, around 1 percent of participants were being treated for schizophrenia, and another 1.5 were diagnosed but untreated. The testing results from those suffering from schizophrenia had characteristic differences by the age of 7; so at least within the first year of schooling, there are already differences that could raise concern.

Doing poorly on certain standardized tests is certainly not in itself an indication of schizophrenia, but it’s the ways in which the children who later suffered from schizophrenia fell behind their peers that is revealing. According to study author Richard Keefe, these children lag behind their peers initially, and then continue to deteriorate. They tended to have more problems with verbal skills and memory; both obvious impediments to successful learning.

Naturally, the question to ask now is can anything be done to improve our early identification of these at-risk children, and intervene? It is already common to treat early identified autistic children with lots of interactive therapy to help them develop and improved social skills. Can we identify potential schizophrenics and stop whatever process that allows the 3-year old “symptomless” child into the 7-year old “high-risk” individual?

The study can be found at:

http://ajp.psychiatryonline.org/cgi/reprint/appi.ajp.2009.09040574v1

Schizophrenia in childhood from G2C Online:

http://www.g2conline.org/819