Shwachman Diamond Syndrome Essay

Schwachman – Diamond Syndrome (SDS) is a condition inherited that causes problems in the body. It especially affects the bone marrow, the pancreas, and the skeletal system. In the bone marrow, people with this condition do not produce some or all of the types of white blood cells, leading to the person developing more serious health conditions like myelodysplastic syndrome (MDS), aplastic anemia, and acute myeloid leukemia (AML). The disease is autosomal recessive meaning it had to come from both parents and the gene related to this disease that is mutated is the SBDS gene. Gene therapy is an experimental technique that uses genes to treat or prevent disease. There are many approaches to gene therapy one of which requires replacing a mutated gene with a

The purpose of gene therapy is to introduce a new or corrected gene into a human so that the protein synthesized from transcription and translation of the new gene will correct the disease. Although gene therapy is still within the early stages of development, there have been some patients that have gone through a clinical trial using gene therapy and some of the diseases experimented on using this disease include cystic fibrosis, AIDS, and certain cancers (Misra 2013). There are two types of gene therapy; somatic gene therapy and germline therapy. Somatic gene therapy only targets body cells curing the individual rather than alteration of genes of future offspring, which is the aim of germline therapy. In gene therapy, a vector is used to introduce the corrected or new gene to the diseased individual. Some of the most common vectors include adenoviruses, adeno-associated viruses, retroviruses, and herpes simplex virus (Misra 2013). A four-year-old boy in Arlington, Texas, diagnosed with Shwachman-Diamond syndrome at the age of 14 months will be cured through the introduction of a functional SBDS gene by somatic gene