on the way to LP 4

Fenix II ARC
Liz/Steve Rakoczy
Wed 10 Nov 2010 13:50

06/10/2010      Distance: ~100 NM   “29:21N 13:17W”


We are making very slow progress, in spite of our huge spinnaker and good size main. It is so frustrating! With not much fuel left, like all sailors before the discovery of the combustion engine, we had to rely exclusively on wind. Except that there was none. In the light of all this I now understand the addiction of  seafaring nations to galley slaves up to modern times. The only mean to get out of a windless location was the strength of the human muscle. Believe it or not Roman galleys could reach 12knts of speed! By now we should have reached the windy zone according to all forecasts, Grib files and Commander’s reports. So sitting in the middle of nowhere and going nowhere it is time for a little grumbling about science.


Take the reliability of weather forecasts. It is all about probabilities. The meteorologists are pretty good at predicting a storm and its course but they are much less precise about the occurrence of a weather occurring at a certain point of time at a certain location. It is the same problem that I face in my profession as a geneticist. We can tell with high accuracy what percentage of the population will develop a certain disease. But when the logical questions are asked - “Am I going to be sick? When? How bad?” - with the exception of family history of diseases where there is a case-cause relationship between a genetic mutation and a disease - the good doctor’s answer is usually evasive.  As for the majority of diseases the relationship between mutations and disease is not case-cause. The problems are similar to those of the weathermen. People want to have precise answers not probabilities.


With the availability of full genome sequencing, $ 15,000/person, more and more people will have a big file in their computers containing their genetic make up. It is all good. But, what does it all mean? After 50 years of toiling, geneticists could only put together a miniscule amount of data, far from covering all diseases suffered by humans. Companies offering genetic counseling on the basis of full genome sequence have been strongly discouraged not to make unrealistic claims about telling whether their clients will get cancer, diabetes, Parkinson’s disease etc. or not. Thus, all their clients get are more or less meaningless percentages, probabilities.


Some of us working in the field suspect that the redundancy in the genetic system is much bigger than we originally thought and that the number of mutations in the human genome is much larger than originally believed. We predict that up to 10% of mutations found in humans (pls note I am talking about real mutations ie. aminoacid changes not polymorphisms) will not cause any disease. My project in Barcelona was to use computational modeling based on 3D structures and complex formation and make calculations to predict whether a previously unseen mutation will cause a disease or not. We hope to set up a website first for eye diseases and later perhaps for other conditions too. Still a long way to go, though.