A Snip in Time

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“Excellence is never an accident.  It is always the result of high intention, sincere efforts, and intelligent execution; it represents the wise choice of many alternatives—choice not chance determines your destiny.”

–Aristotle

For those or those whose near and dear ones suffer from genetic disorders, life is a continuous challenge. Most of the time medical science finds itself reduced to a helpless spectator, unable to offer a definite cure, and has to limit itself to merely alleviating symptoms or watching mutely from the sidelines. This is where genetic research comes into its own so that several problems can be nipped in the bud.

The mind boggles on imagining a world controlled by nearly invisible chemical clusters which can make or mar a life. But this is precisely what genes do. It is further mind-boggling to imagine these blobs can be cut and pruned at will for the betterment of thousands of lives. For years, a struggle was on to develop tiny scissors for this task which has now been accomplished by a dauntless duo who snip away precisely at diseased life and help it grow better.

2020 has been a first of sorts, for this pair of scientists have been honoured with the Nobel Prize in chemistry, the first time a pair of women have been thus recognized and honoured. They are Emmanuelle Charpentier, a French microbiologist, and Jennifer A Doudna, an American biochemist.

 

THE WHAT AND HOW OF GENE EDITING SCISSORS

It has been long observed that certain bacterial communities have some repetitive sequences in their genome called CRISPR (Clustered Regularly Interspersed Short Palindromic Repeats) which they use to protect themselves from viral infection. There is another enzyme Cas 9 associated with this sequence which helps further. It has now been discovered that CRISPR is activated by the interaction between two RNA molecules which guide the Cas 9 to snip out pieces of any foreign DNA at precise points in the genome. This mechanism can be re-engineered in a laboratory to provide a tool for gene editing in all kinds of cells.

Simple as it now seems, this technique which had baffled scientists for decades was researched by Emmanuelle Charpentier and Jennifer Doudna, leading to the development of gene editing scissors which work at half the cost and time required of the other techniques available today.

While Emmanuelle Charpentier’s work led to the discovery of a previously unknown molecule called TRACR RNA involved in the CRISPR system, Jennifer Doudna helped recreate the setup in a test tube. Reprogramming these genetic scissors in an epoch-making experiment they proved that the system could be controlled to cut any DNA molecule at any predetermined site.

GREAT MINDS THINK ALIKE

Literally and figuratively poles apart with oceans separating them, they have nonetheless managed to collaborate on working with bacterial proteins and RNA. An unlikely looking pair, they however share a deep passion for science and the intention to harness it for the benefit of humanity at large.

THE EUROPEAN CONNECTION

Emmanuelle Charpentier, described as a quiet revolutionary by ‘Nature Journal of Science’ was born in Juvisy-Sur-Orge near Paris. As a young girl growing up in the environs of Paris, her love for nature and later science was encouraged by her father who worked as a park manager, and her mother who worked in psychiatry. A serious student by her own admission, she always wanted to ‘advance medicine’ from a young age and a visit to a missionary aunt sealed the deal.

Pioneers of revolutionary CRISPR gene editing win chemistry Nobel

Image Source: https://www.nature.com/articles/d41586-020-02765-9

After attending the Pierre and Marie Curie University for her undergraduate and graduate studies, she did her graduate research at the Pasteur Institute which felt like a second home since she wanted to work there since the age of twelve and was awarded a PhD in microbiology in 1995. Thereafter, following a circuitous in the USA where she held various research positions, she ultimately ended up in Vienna in 2002 to establish her own research group. A short stint in Sweden was followed by a chance meeting with her partner in crime for the Nobel prize while at a conference in Puerto Rico in 2011. Since 2018, she has been the founding and acting director of the Max Planck unit for the science of pathogens in Berlin, Germany.

Described as intense and driven by her colleagues, she has been lauded for her resourcefulness by her PhD supervisor who says that she could set up a lab on a desert island.

Has winning the Nobel prize changed all this? A firm no is the answer. According to her own admission “The scientist that I am got me here and that is the scientist that I want to remain”. On hearing the news of being awarded the Nobel prize she says “My wish is that this will provide a positive message to the young girls who would like to follow the path of science and to show that women in science can also have an impact through the research they are performing”

ACROSS THE POND

Born in Washington DC and brought up in Hilo, Hawaii by a father who was a professor of English literature and a mother who taught history, retreating into books and exploring the wilds in search of exotic flora and fauna were a way of life leading to a deep appreciation of science for Jennifer Doudna. Reading James Watson’s personal account on the discovery of the double helix of the DNA at the age of 12 and attending a lecture on cancer cells by visiting faculty at the Honolulu Cancer Center were the events that made her realize that she wanted a career that allowed her to explore the mysteries of life.

After obtaining a degree from Pomona College in California, she joined Harvard University to pursue a doctorate in biochemistry, which she finished in 1989, following which she developed an interest in RNA structure and went on to decipher the atomic 3D structure of RNA. After a short stint at Yale University, she moved to the University of California, Berkeley where she was appointed professor of Biochemistry and Microbiology. Developing an interest in the human style immune system of certain bacteria and a chance meeting with Emmanuelle Charpentier led to the collaboration which created history.

In addition to this, she spearheads the public debate to consider the ethical implications of genetically editing human embryos. The much-acclaimed author of “A crack in creation” a first-person account of her research and the cofounder of five biotech firms that are commercializing gene-editing biotechnology, winning the Nobel has not changed the fundamental scientist in her.

“I love science”, she says. “When I wake up in the morning, that is the first thing I am thinking about and when I go to bed at night, it’s the last thing I think of. Go for your biggest and most exciting ideas and don’t let anyone tell you it won’t work”.

MESSAGE

Inspiration for the coming generations of female scientists, Emmanuelle Charpentier and Jennifer Doudna have yet again proved the glass ceilings exist only to be broken. Not all superheroes wear capes, some revolutionize the world!

Featured Image Source: https://www.drugtargetreview.com/news/74031/crispr-used-to-eliminate-cancers-caused-by-fusion-genes/
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About the author

Describing herself as a 'surgeon who would rather wield a pen', Dr Sumedha Rege is an ENT specialist by profession but a writer by choice. After completing post-graduation in ENT in 2003, she has also worked as a post-graduate trainer in a popular institute in Mumbai. Obtaining an advanced diploma in creative writing with distinction in 2010, she has written on myriad topics for quite a few online publications. She currently has a private practice in Thane and is specially interested in nasal allergies.

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