Imagine having a child with an extremely rare disease caused by a genetic mutation. You go to every doctor in the city with the hopes of at least identifying her condition. None of them seem to have the answers you seek. Until you come across one who gives you some unfortunate news: your daughter has an extremely rare illness that has no known cure. Even worse, because it’s so rare, there may never be a cure!
This would be a parent’s worst nightmare. Surprisingly, it happens more often than you would think. There are numerous diseases in our world that haven’t even been identified yet, let alone cured. Whether it’s due to limited resources, a lack of studies, or unavailable technology, numerous people die every year from genetics-related diseases.
You might be surprised to learn that recent breakthroughs in medicine may soon be able to solve this problem.
The Case of Mila Makovec
In early 2017, a little girl named Mila Makovec was suffering from a genetic disease called Batten disease, which “progressively damages brain cells and leads to death by adolescence“. As the disease wasn’t very common, little research had been initiated in finding a cure. A team of neurologists offered to help the girl and managed to create a strand of RNA which would potentially mask the deadly mutation in the girl’s DNA.
Within a year, the team was able to synthesize the drug and get it approved for trials by the FDA. Keep in mind that this process regularly can take up to twelve years, including trials and distribution time, of course. It wasn’t long after testing the drug that the neurologists noticed dramatic improvements to Mila: she was suffering from less seizures, she could stand and walk with assistance, and her condition had mostly seemed to stabilize.
While Mila still isn’t cured, the fact that these scientists were successfully able to prevent her symptoms from worsening by slightly altering her DNA is an incredible feat. It’s only a matter of time before a cure will be available for this disease that few have heard of.
Altering Your DNA
So what does this mean for the future of incredibly rare genetic diseases, then? With the recent success of the drug used to treat Mila, we may start seeing other rare mutations being treated to save lives. More clinical trials and a rapid production in the speed of treatment, for instance, can save lives before these diseases have a chance to progress too far.
With gene replacement, gene editing, and antisense on the horizon, we may soon start seeing treatments that “can be programmed, in digital fashion and with digital speed, to correct or compensate for inherited diseases, letter for DNA letter“.
What might be problematic with this notion is the fact that most genetic mutatuions are induced by nature, either hereditarily or over the course of one’s lifetime. Ethically, how can we alter someone’s genes if nature chooses them for a rare disease? Who are we to mess with natural selection? Should we not merely be observers?
The argument against this idea is that we have already messed with nature in irreparable ways. We’ve destroyed forests and animal ecosystems for the sake of human comfort, driven numerous species to extinction, and developed medicines to help us live much longer.
We’ve also seen restoration projects with trees being planted, endangered species being monitored and protected, and humanitarian aid delivered worldwide thanks to the wonderful work of non-profits. With this in mind, adding curable genetic diseases to that list doesn’t seem like such a bad idea after all.
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