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SCIENCE NEWS
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February 12, 2022
TETIANA LAZUNO
V
A/IST
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GETTY IMA
GES PLUS
FEATURE
How the Human Genome
Project revolutionized our
understanding of our DNA
To celebrate our 100th
anniversary, we’re highlighting some of
the biggest advances in science over the last century.
To see more from the series, visit the Century of Science site
at
www.sciencenews.org/century
I
n October 1990, biologists officially embarked on one of
the century’s most ambitious scientific efforts: reading the
3 billion pairs of genetic subunits — the A’s, T’s, C’s and
G’s — that make up the human instruction book. The
project promised to blow open our understanding of basic
biology, reveal relationships between the myriad forms of
life on the planet and transform medicine through insights
into genetic diseases and potential cures.
When the project
was completed in 2003, the scientists having read essentially
every letter, President Bill Clinton called it a “stunning and
humbling achievement” and predicted it would “revolution-
ize the diagnosis, prevention and treatment of most, if not all,
human diseases.”
Even dreaming up such an endeavor depended on decades
of previous discoveries. In 1905, English biologist William
Bateson, who championed the work of Austrian monk Gregor
Mendel, suggested the term genetics
for a new field of study
focused on heredity and variation. Early the next decade,
American biologist Thomas Hunt Morgan and his colleagues
showed that genes are carried on chromosomes. Biochem-
ists had been studying DNA for nearly three-quarters of a
century when Oswald Avery and his team at the Rockefeller
Institute in New York City helped establish in the 1940s
that DNA is the genetic material. And perhaps most notable,
and famous today, is the 1953 discovery of the double-helix
structure of DNA, by James Watson and Francis Crick of
the University of Cambridge
and Rosalind Franklin and
Maurice Wilkins of King’s College London.
But when the draft of the genetic instruction book was first
published, independently by an international collective of
academic and government labs called the Human Genome
Project and the private company Celera Genomics, led by
J. Craig Venter, the text was “as striking for what we don’t see
as for what we do,”
Science News reported (
SN: 2/17/01, p. 100).
There were many fewer genes than expected,
leaving a puzzle
about what all the remaining DNA was for.
In the decades since, scientists have filled in some of that
puzzle — identifying a host of genes, for example, that don’t make
proteins but are still essential in the body. Other researchers
have searched the instruction book to find new treatments for
diseases and to figure out how we’re all related — not just people,
but all life on planet Earth, past and present.
To explore how far our understanding
of our DNA has
come,
Science News senior writer and molecular biology
reporter Tina Hesman Saey talked with Eric Green, director
of the National Human Genome Research Institute at the
National Institutes of Health in Bethesda, Md. Green got his
start in genomics in the lab of Maynard Olson at Washington
University in St. Louis, a pioneer in the field. At the same
time, Saey was a graduate
student in molecular genetics,
working down the hall. She remembers as an undergraduate
student sequencing the genes of bacteria 50 to 100 chemical
subunits, or bases, at a time. “My mind was completely blown
by the idea that you could put together 3 billion bases.” The
conversation that follows, which has been edited for length
and clarity, looks back on the project and ahead to all that’s
left to learn.
— Elizabeth Quill
Reading Our Genes
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