DNAConsulta.com

GENE THERAPY
A Treatment where previously there was none: Hunter Syndrome

Hunter syndrome: Boy with rare condition amazes doctors after world-first gene therapy Oliver has an inherited condition called Hunter syndrome, which causes progressive damage to the body and brain.

Scientists just took a big step toward treating Down syndrome

In a major advance for gene editing, scientists in Japan have used CRISPR-Cas9 to remove the extra copy of chromosome 21 in lab-grown cells from individuals with Down syndrome. This condition, known as trisomy 21, results from having three copies of the chromosome instead of two – affecting about 1 in 700 live births.

The technique, called trisomic rescue, works by using CRISPR to target and cut the extra chromosome multiple times. By suppressing the cells’ natural DNA repair processes, researchers increased the chance that the damaged chromosome would be completely removed – rather than repaired. Remarkably, the edited cells retained one copy of chromosome 21 from each parent, avoiding harmful duplication.

The results? The rescued cells showed normalized gene expression, improved growth, and reduced cellular stress – key indicators that cellular function had been restored. Even more impressively, the method worked in both pluripotent stem cells and fibroblasts (skin cells), showing promise for broad application.

Though this is still early-stage research and not ready for clinical use – due to risks of unintended changes to remaining chromosomes – the study proves it’s possible to delete an entire human chromosome with precision.

It’s a foundational step toward treating not only Down syndrome, but potentially other chromosomal disorders like trisomy 13 and trisomy 18.

Learn more: https://academic.oup.com/pnasnexus/article/4/2/pgaf022/8016019?login=false&fbclid=IwY2xjawLPtJ9leHRuA2FlbQIxMAABHkQGzBRcOmtTpJH1hWbox-PJsTtIzQlDRsGDYr5eOVHZ0a5I8PuGvyjXW7zD_aem_TzOyNigeeCMTlOlb1xdinA