Japanese Scientists Claim to Have Found a Way To Delete Extra Chromosome Linked to Down Syndrome

Every year, 5,700 babies are born with Down syndrome in the United States, My Modern Met reports. But what exactly is Down syndrome? Well, WebMD says it's a genetic disorder influenced by an abnormal cell division, causing individuals to have an extra copy of chromosome 21. So, as people with Down syndrome grow, the additional chromosome substantially affects their physical and mental growth. Recently, Japanese scientists from Mie University delivered some good news to patients and their caregivers — an antidote to Down syndrome might finally have been achieved.

The groundbreaking research, published in PNAS Nexus, claims that the scientists have come up with an effective technique to eliminate a copy of chromosome 21. They said CRISPR/Cas9, a gene editing technique, can cut out the extra chromosome in affected cells. So, basically, the DNA-modifying technology depends on enzymes to identify particular DNA sequences, and once it finds a match, it eliminates the entire DNA strand. First, the scientists designed CRISPR, a special gene-editing tool, to target and then remove the chromosome copy causing Down syndrome. This whole process of identifying and eliminating the extra chromosome is called "allele-specific editing." Now, after they removed the faulty chromosome in lab-grown cells, the scientists found that the gene expression returned to its normal state. 

The scientists, reportedly, found that the genes associated with the nervous system became more active and those tied to metabolism slowed down. Moreover, My Modern Met cited that the corrected cells not only grew faster but also had a shorter multiplying time as compared to untreated cells. The skilled scientists then tested their tool on skin fibroblasts extracted from people with Down syndrome, and the technique worked again. Does this gene editing technique have any limitations? Well, yes, in fact, it entails a major risk. The study discovered that CRISPR can also attack healthy cells; hence, it's not ready for medical use. As of now, the team of scientists is working to refine their technique.

Meanwhile, an anonymous individual (u/rafaywaqar) on Reddit shared the incredible news online, and the response was just wholesome. For example, u/mnl_cntn commented, "It's actually uplifting news. Life in this world is hard enough; if we can identify issues like this before a person is born, then who knows what we’ll be able to do in the future?" Similarly, a user who goes by u/steelydan_dot_exe said, "Honestly, I loved someone very close to me with Down syndrome, and there was so much I would never want to change about him. But he died at 27 from congestive heart failure, and if there had been a treatment like this that could have extended his life, I would have been all for it."

Echoing the sentiments, u/mrhaftbar wondered, "Maybe at some point in the future, there will be the last person with Down syndrome. It makes me feel proud of what humanity can achieve. But at the same time, I'm somewhat sad in a weird way, as it should not make me sad. It just feels weird telling someone with Down syndrome, 'You will be the last one, thank god.' Maybe I am overthinking!" Another user, u/paradox711, wrote, "This might actually be one of the best pieces of news I've heard in a very long time. Usually it’s all vaguely hopeful nonsense that will take a very, very long time to realize, but this feels tangible."