This is the first of a series of articles about forward thinkers who are helping to solve some of the world’s greatest challenges. These remarkable people are helping to define the future direction of their community, country, and even our global society. Vote for your favorites to win the Pilot Fish Trailblazer Award and suggest new nominees in the comments section below.
Imagine trying to solve the world’s largest jigsaw puzzle with billions of pieces. What’s more this is no ordinary puzzle. Solving it is a matter of life and death for millions of people with incurable genetic diseases. In fact, the solution could change the future of medicine and could usher in huge advances in identifying, treating, and curing disease. Not simply one disease, but all genetically-based diseases. Needless to say, the task is daunting and requires tenacity and perseverance to forge ahead for years despite tremendous odds.
But this challenge defined the career of Dr. Frederick Sanger, winner of two Nobel Prizes in Chemistry in 1958 and 1977 for his groundbreaking work in genetics. Born in Rendcombe, England, he was encouraged to enter medicine by his father, a medical doctor. Fred, however, chose a career in science, because he wanted to solve problems. He studied and later worked at Cambridge University at the Medical Research Council and the Laboratory of Molecular Biology, where Francis Crick, John Kendrew, Aaron Klug and others were tackling a DNA-related problem. This spurred his determination to unravel the sequence of adenine (A), Thymine (T), guanine (G), and cytosine (C)—the 4 chemical letters in DNA that make up the genetic code of all living things.
At times, his determination faltered. The task was enormously complex. Each strand of DNA contains thousands of chemical letters (A, T, G, C) in different combinations. But he persisted and developed a faster and more efficient technique of reading a sequence of 500 to 800 letters at a time and sped up the process a thousand-fold. He decoded the complete genome of a virus with more than 5,000 letters in 1977 and then tacked the 16,000 letters of mitochondria.
His technique, called the Sanger Method, gave scientists the confidence to tackle one of science’s greatest quests—to sequence all 3 billion letters in the human genome and provide a map of the complete set of DNA in the human body. This evolved into a global collaborative effort–the Human Genome Project--launched in 1990.
The mission of the Human Genome Project sounds like a script from Mission Impossible. Sequence 3 billion letters in 12 years? And its goal was equally astounding: “to provide researchers with the powerful tools to understand the genetic factors in human disease, paving the way for new strategies for their diagnosis, treatment and prevention.” (Human Genome Fact Sheet)
Using high-speed computers and shared data on the Internet, scientists worked for 10 years to solve pieces of the genetic puzzle. This massive global undertaking succeeded in record time in unlocking the human genetic code in 2003. At the same time it “spurred a revolution in biotechnology innovation.” (Human Genome Fact Sheet )
Here’s a short video (6 minutes 49 seconds) on how the genome was sequenced:
But what does this discovery mean to us–personally and as a society? Francis Collins, the current director of the National Institutes of Health and the former director of National Human Genome Research Institute (NHGRI), noted that the genome could be thought of in terms of a book with multiple uses: “It’s a history book – a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.” (National Genome Research Institute)
A dozen or so years later, the impact of this discovery is already astounding. Here are a few developments:
- Discovering more than 1,800 disease genes
- Developing more than 2,000 genetic tests for human conditions, which enable patients to learn about their genetic risks for disease and help healthcare professionals diagnose disease
- Identifying the causes of rare genetic diseases such as the Miller syndrome
- Changing the evolution of pharmacogenomics—a field that looks at how genetic variation effects an individual’s response to a drug. Now pharmacogenomic tests can determine which drug will be the most effective to treat a disease and what dose is effective.
As with any breakthrough, there are benefits and risks both on a personal and societal level. In this uncharted territory of biotechnology, we are faced with new ethical dilemmas, which require a thoughtful response and open public debate. For example, we may want to mutate genes to eliminate certain genetic traits, such as baldness, as well as diseases like breast cancer, but how do we feel about altering the genes responsible for intelligence and personality? There are no clear answers.
Despite these ethical conundrums, the impact of the pioneering work by Dr. Sanger and The Human Genome Project will last through this century and beyond. Already the success of the project has spurred other initiatives, such as the Cancer Genome Atlas, which has set out to identify the genetic abnormalities in 50 types of cancer.
Fortunately, Dr. Fred Sanger lived to see the fruit of his groundbreaking genetic work. He died in 2013 in Cambridge, England at the age 95 .
So, what do you think? Do Fred Sanger and the Human Genome Project get your vote for the Pilot Fish Trailblazer Award? I’m curious to hear what you think!
To learn more about the Human Genome Project and Dr. Fred Sanger, click on the links below:
Dr. Fred Sanger:
Timeline: Unlocking the Genetic Code: https://unlockinglifescode.org/timeline
Categories: Pilot Fish Trailblazer Awards