BREAKING NEWS IN HEALTHCARE
Mapping the Human Genome
The human genome has been a mystery to scientists ever since the discovery of DNA and genetic information. The Nobel prize-worthy discovery of Watson and Crick in 1952 — which taught us all about the twisted ladder-like structure of DNA — has given rise to thousands of different research experiments and models all for the purpose of one goal: to sequence the human genome.
You have probably heard and learned plenty about DNA, the history of its discovery, its role in our bodies, and the fundamental role it has in the existence of life on Earth. In the past, scientists have been successful in mapping some species’ entire genomes, however, it has been yet that scientists have been able to successfully sequence the entire human genome.
Even with all of the advanced levels of biotechnology available for scientists to use, it is quite reasonable to understand the level of difficulty in sequencing the human genome, which you must remember, consists of approximately 3 BILLION base pairs! In this blog, I hope to feature the contribution of scientists all over the world who have dedicated their entire careers to working towards this goal because if you have not guessed it already, THEY DID IT! It has now been confirmed that scientists have achieved the impossible; they have sequenced 100% of the human genome!
What is the Human Genome Project?
The Human Genome Project was science’s first attempt at trying to sequence the entire human genome. It was one of the most ambitious projects taken on in history, and its discoveries continue to open up a whole new world of genomics and research in molecular biology.
It began in 1990 and scientists achieved several different milestones along the way. Some of these include publishing a physical map of the human genome in 1995, decoding the DNA sequence of the first human chromosome in 1999, and finally, the project concluded in 2003 when the International Human Genome Sequence Consortium published their finished human genome sequence. However, it is important to realize that the genome sequence published at the end of the project was truly only 92% of the total human genome sequence. This amazing discovery was the first of its kind and scientific research has been transformed ever since. It provided researchers with the ability to decode the genetic instructions that our bodies use to grow and become living and breathing human beings!
Recent Milestones
Although the Human Genome Project concluded in 2003, there was still an entire 8% of the genome left unknown and in terms of base pairs, that means there were 240 million base pairs that scientists had not sequenced. Therefore, there was still work to be done.
Scientists continued, independently of the project, working towards uncovering the entire genome and developing more efficient tools in the lab to assist them with their experiments. The work to complete the genome was done by the Telomere to Telomere Consortium which is led by researchers at the National Human Genome Research Institute.
Some of the most useful and effective new strategies that scientists developed to help them in their research included the PacBio HiFi DNA sequence method. This method is one of a kind since it can read about 20,000 letters with almost no error. After over 25 years of research and groundbreaking discoveries, the final and complete human genome sequence was published in a set of not one, not two, but six papers in the April 2022 issue of Science. It has been a long journey for thousands of scientists internationally who have committed to making this once impossible goal come true, and with all amazing discoveries come great rewards!
The Future of the Human Genome
Not only is this project the work of brilliant minds showing everyone the amazing way in which our brains can operate, but it also serves as one of the pivotal moments in research across all fields of biological sciences as the application of this successful project is limitless.
The main area of research that the sequenced human genome will serve in science is clinical research. With the advancement of screening technologies for fetuses, infants, children and adults, knowing more about the human genome can help people learn more about genetic predisposition and health risks that may contribute to early mortality or medical issues later in their life. Some of the most common genetic conditions that physicians now can screen for include myotonic dystrophy, familial breast cancer, Alzheimer’s disease, and many others.
In addition to uncovering health risks, having access to a complete set of the human genome can help researchers develop drug designs and individualized treatment plans for patients. With the ability to sequence the genome, we can enter a new era of molecular medicine where physicians and researchers can use individual diagnoses and symptoms to come up with an individualized treatment plan that is targeted toward the person’s genome rather than the disease they are diagnosed with.
As you can see, the future of genomics is limitless, and it is without a doubt one of the most groundbreaking accomplishments in the history of science. If you are a high school or undergraduate student, the next time you enter your biology class, you will now be able to tell your classmates and your professors about the amazing work of scientists in advancing medicine and molecular biology research. Be sure to stay tuned for the upcoming blogs that will touch on some other amazing recent discoveries in the field of science and healthcare.
About the Writer
Wynter Sutchy is a soon-to-be second-year undergraduate student at McMaster University studying Life Sciences and is from King City, ON. She is very passionate about the healthcare field and enjoys sharing her volunteering experiences through writing. She plans to pursue a career in medicine in the future and plans to explore the field of healthcare through research and volunteering throughout her undergraduate career. In her free time, you can expect her to be watching her favourite show, Greys Anatomy, teaching children how to swim, or baking some delicious desserts!
Sources
https://www.genome.gov/human-genome-project
https://www.pbs.org/wgbh/evolution/library/06/3/l_063_01.html#:~:text=Watson and Crick realized that,information for all living things.
https://www.genome.gov/human-genome-project/Completion-FAQ#:~:text=The human genome contains approximately,nucleus of all our cells.
https://www.nih.gov/news-events/nih-research-matters/first-complete-sequence-human-genome
https://www.aacc.org/cln/articles/2017/december/the-future-of-genomic-sequencing#:~:text=The future will likely see,coverage is expensive%2C he noted.
https://web.ornl.gov/sci/techresources/Human_Genome/project/benefits.shtml
