It’s All In Your Genes
You have six billion pairs of nucleotides in each of your cells, and amongst these six billion nucleotide pairs are roughly 23,000 genes. A gene is made up of a distinct stretch of DNA that determines something about who you are. Genes are often called the blueprint for life, because they tell each of your cells what to do and when to do it. Genes do this by producing proteins. In fact, each gene is really just a recipe for a making a certain protein.
DNA is constantly subject to mutations, accidental changes in its code. Mutations can lead to missing or malformed proteins, and that can lead to disease. We all start out our lives with some mutations. Few mutations are bad for you. In fact, some mutations can be beneficial. Over time, genetic mutations create genetic diversity, which keeps populations healthy. Many mutations have no effect at all. These are called silent mutations.
The mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include Tay-Sachs disease, cystic fibrosis, , Fanconi Anemia Type C, Canavan Disease and Niemann Pick, among many others. All of these disorders are caused by the mutation of a single gene.