Improving Disease Diagnosis: Genetics Meets Metabolism
Many diseases have genetic roots, but the effects of different gene variants are not always obvious
The roots of disease
We all know — and have recently been made painfully aware — that viruses can cause disease. As can bacteria and various parasites.
But invasion by those minuscule marauders is not necessarily the only reason for disease to manifest. Many diseases develop due to internal processes that go awry. In many cases, mutations can have either a direct or indirect effect and lead to internal errors. (Genetics, of course, also affects how our bodies deal with external pathogens such as viruses and bacteria.)
Thanks to increasingly better methods to read and analyze DNA, many disease-causing genes have been identified. And, while we sometimes can directly link a mutation to a disease, our improved ability to read DNA has also made us realize that often it’s not that simple.
Whole exome sequencing, which allows scientists to analyze all the genes that encode proteins (the ‘exome’), has shown us that each of us carries a lot of mutations. In other words, we all have many slightly different gene ‘versions’ that may give rise to tweaked proteins. What makes this even…
