Medical Research Update
Ellen Burns, Vice President and Medical Liaison
Last year we announced in the DFI Newsletter that the gene causing HSN I (the Deater Disease) had been identified and confirmed by research teams in Australia and Massachusetts. The researchers studied 12 families and identified three different mutations in the gene. Everyone who had one of the mutations in the gene had the disease. This was fantastic news! Armed with this knowledge, scientists can now begin to look for the fundamental reasons for the cause of the nerve damage.
Each cell in the human body contains all the information needed to make a whole person. This information is stored in the nucleus of the cell in material called DNA. Each person inherits half his DNA from his mother and half from his father. There are millions of ways the combinations of DNA can be put together, making each person unique. The DNA is arranged into chromosomes, and organized on the chromosomes into genes. Genes make proteins, and proteins make enzymes.
Genes control how the body looks and functions. The chemical building blocks of a gene can be likened to the letters in a word. Like children’s letter blocks, each