Challenges in the Biomedical Treatment of Down Syndrome

The chapter examines the viability of treating persons with Down syndrome (DS) physiologically rather than only via laboratory investigations. Human chromosomal or gene treatment is loaded with logistical and moral challenges. In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. To prevent DS, genome editing would have to be performed early on embryos. In vitro findings point toward the possibility of silencing extra chromosome 21 (C21) in later embryonic or foetal life, or even postnatally for some aspects of neurogenesis. These possibilities are beyond what is allowed today. Another approach is through regulating the overexpression of noxious genes on C21. Research with mouse models of DS is yielding promising results. Human applications have barely begun and are questioned on ethical grounds.