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Aila McPhail

Genomics Miracles

Updated: Apr 24, 2021

By Aila (with help from Lihong)





Genome sequencing and gene editing are saving lives. Genome sequencing helps to identify gene related diseases, viruses, and disorders. In this post I share stories about how gene therapy cures people that have rare genetic disorders or protect people from viruses that have recently just come about. The three that I will be sharing with you today will be Sickle Cell, Covid-19, and Spinal muscular atrophy (SMA). These illnesses may seem to be very different but they all use similar tools to treat or cure. To learn more read this article.


Sickle cell is a disease that affects your blood cells. This disease can cause extreme amounts of pain and can often be fatal. It is caused by a mutation that turns blood cells into the shape of a sickle. Blood cells carry oxygen to different places of the body, so when you have sickle cell your body is not able to get enough oxygen. When you have sickle cell you have to get your blood drained out and then you get new blood put back into you every few months. Sometimes if it is too extreme you might have to get a bone marrow transplant that is extremely painful and still does not come close to completely curing this disease. Thanks to gene therapy, there is a potential cure for sickle cell that is less painful and almost completely cures the disease with one treatment. Approximately 100,000 Americans currently have sickle cell. Many patients under the clinical trial of CRISPR gene therapy have shown promising improvement. Recently there was a 35 year old mom named Victoria Gray that was cured from sickle cell by crisper. After a year she felt so much better that she decided to fly on an airplane for the first time to go visit her husband regardless of the pandemic.


In 2020 the Covid-19 pandemic struck, even though people only die from Covid if you are already sick or old. So why are people making such a big deal about this virus? Well, Covid-19 is very contagious and you can go weeks without even knowing you have it. Covid has brought many challenges and millions of people have died, but now we have a way to stop it by mass vaccination. Gene sequencing is used to understand the DNA of the virus, which is then used to develop the vaccine based on mRNA technology. Messenger RNA delivers the coronavirus S protein’s genetic instruction. Our own cells then use the information stored in the mRNA to make the S proteins. Our immune system is then “trained” to recognize these spikes, preparing it for a future attack. While it usually took 5-10 years to develop a new vaccine, the advancement in genomics made it possible for the Covid-19 vaccines to be produced and approved in one year. It actually only took scientists 10 days to sequence the DNA of the virus since the first outbreak was identified in Wuhan, China. Then scientists from Moderna developed the mRNA vaccines in 2 days. A year after the WHO declared Covid-19 pandemic, hundreds of millions of people were fully vaccinated!


Spinal muscular atrophy (SMA) is a genetic disease that is rare and it causes your muscles to get weaker and weaker and eventually stop working. When this happens to babies, most that have SMA do not live past the age of two years old, because they were not able to breath, eat, etc. One girl named Evelyn, she was the second child that had SMA in the family; the first child had died from SMA. But Evelyn got a bit more lucky, when her parents had found out about the cure using gene editing they jumped at the opportunity! She got the treatment and then just two months after, she was showing improvements. When Evelyn turned three you couldn't guess she ever had SMA! Another baby also was born with this disease named Sophie. When she got the treatment she started showing improvements even faster, after three weeks she was lifting up her head, and sitting up on her own. Not too long after that she was able to get out of her own wheelchair so she could roll around and get things that she wanted.


Genomics is already making miracles in people’s lives by curing genetic disorders such as sickle cells and SMA or creating vaccines at warp speed to fight against the COVID-19 pandemic. As gene sequencing becomes cheaper and more precise, more and more therapies will be developed to treat or cure diseases and save lives. In the future, these miracle stories today will become common practice!

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