Have you ever wondered why the human genome project is such a big deal? One amazing aspect of the human genome project is the ability to identify genes associated with diseases. In fact, the genes of many diseases are now known. For example a gene on Chromosome 3, called SCN5A, was shown to have several mutations in a family which had a high frequency of heart failure.
While studying people with Laron syndrome in Ecuador, scientist Valter Longo observed that the mutation in this gene seemed to protect the people from diseases like cancer and diabetes. Laron syndrome is caused by a mutation in the gene for the human growth hormone receptor leading to short stature (under 4 feet).
Image Courtesy of Valter Longo
Finally, while mapping and cataloging genes in cancers, scientists detected over 1000 mutations in 188 lung cancer patients. Within this group, cigarette smokers consistently had the same 26 mutations! Medical researchers are continuing to identify the genetic influences of many diseases and work out how genetics interact with other factors such as diet and lifestyle.