Researchers have made a breakthrough in understanding how gene editing tools can be used to treat Down syndrome. The condition, caused by an extra copy of chromosome 21, is the most common genetic cause of cognitive dysfunction and has no cure. A new study published in PNAS Nexus explored the use of CRISPR-Cas9 gene editing to remove the duplicate chromosome.
The study successfully demonstrated that it’s possible to eliminate one copy of chromosome 21 from cells, a key step towards developing a treatment for Down syndrome. The researchers used skin fibroblasts and pluripotent stem cells, two types of cells commonly used in scientific research. They found that suppressing a cellular pathway responsible for repairing DNA damage increased the efficiency of the process.
The study’s findings show that removing the duplicate chromosome does not affect gene expression or cell function. This is a crucial step towards developing a treatment for Down syndrome, which affects millions worldwide. However, there are still significant challenges to overcome, including unintended effects on other chromosomes and concerns about applying this technology to human embryos. Further research is needed to bring this potential cure closer to reality.
Source: https://www.labroots.com/trending/genetics-and-genomics/28567/assessing-gene-therapy-approaches-syndrome