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Rewriting the Code of Life

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Editor's Note: Every day, we encourage and support women in STEM. In this particular blog, we celebrate the accomplishments of two notable women in science, and evaluate how AI/analytics can play a role in supporting their groundbreaking work.

The Nobel Prize in chemistry was recently awarded to Dr. Jennifer Doudna, an American biochemist, and Dr. Emmanuelle Charpentier, a French microbiologist, for their groundbreaking work on the development of a new method for genome editing using the CRISPR/CAS9 genetic scissors.

Both doctors have the distinction of being the very first women to jointly win the Nobel Prize in chemistry, and the sixth and seventh women to win the chemistry prize. In honor of their notable accomplishments, I take a dive into their life-altering innovations and the measurable impact it will have on patients like us.

What exactly are the CRISPR/CAS9 Genetic Scissors?

The CRISPR-Cas9 system consists of two molecules that make an edit in the DNA.

  • Cas9 – An enzyme which functions as a pair of “molecular scissors”. It can cut the two strands (sense and anti-sense) of DNA at a specific location in the genome.

  • GUIDE RNA (gRNA) – A short (20 bases or so) piece of pre-designed RNA sequence located within a longer RNA scaffold. The gRNA guides the Cas9 to the planned part of the genome ensuring the right place is cut and that the gRNA binds only to the desired sequence and not somewhere off-target.

The Cas9 scissor enzyme is guided to the desired location and snips across both strands of the DNA. Once this happens, the cellular mechanism understands that the DNA is damaged so initiates a repair mechanism. Now it is possible to use this opportunity to introduce changes to the genes of their design.

What is the Impact?

The CRISPR/Cas9 gene editing tools have revolutionized the molecular life sciences, brought new opportunities for plant breeding, are contributing to innovative cancer therapies, and may make the dream of curing inherited diseases come true, according to the Nobel committee.

Goran Hansson, secretary general for the Royal Swedish Academy of Sciences, said that this year's prize was about "rewriting the code of life."

Here are real-world applications of this groundbreaking innovation that may impact our lives going forward:

  • Altering the DNA of animals, plants, and microorganisms with extremely high precision to reduce diseases and develop newer breeds with better nutritional value.

  • Innovative cancer treatment protocols which can potentially repair cancer ridden cells at a genomic level, precluding the need for invasive modalities like chemotherapy.

  • Proactively identify defective genomes in newborn infants and repair them to prevent inherited diseases like cancer, Cystic Fibrosis, Alzheimer’s, Parkinson’s, and dementia.

  • Over time, once the technology and platform mature, it is entirely possible to potentially explore applications of this methodology to address chronic diseases like obesity, COPD (Chronic Obstructive Pulmonary Disease), diabetes, cardiovascular disease, or even the debilitating after-effects of COVID-19.

The Value of AI And Analytics in Gene Editing

Artificial Intelligence (AI), Machine Learning, Natural Language Processing (NLP), Deep Learning, and analytics can also complement and support the CRISPR/Cas9 gene editing to enable precision medicine and personalized healthcare going forward:

  • It is indeed possible to envision a future where the genomic profiles of newborn infants are captured at birth, like what was accomplished at the Inova Translational Medicine Institute (ITMI), articulated in my previous blog.

  • Collecting genomic data from the infant’s parents can help clinicians and researchers create a complete genomic profile of a newborn infant as a basis for comparing with the mainstream population.

  • Leveraging self-service analytics platforms like Alteryx and Tableau/ Qlik/ Power BI, researchers can proactively identify variances in genomic profiles that would culminate in chronic diseases like obesity, COPD (Chronic Obstructive Pulmonary Disease), diabetes, and cardiovascular disease, as well as diseases like Cystic Fibrosis, Alzheimer’s, Parkinson’s, and dementia.

  • Once these variances and defects in genes are accurately pinpointed and identified, clinicians have the option of correcting these with platforms like the CRISPR/Cas9 gene editing scissors, if appropriate, to assure superior patient outcomes and a better quality of life for these patients.

The gene editing technology — much like Artificial Intelligence (AI) — has also raised ethical dilemmas and is not without controversy, triggered by socio-political concerns after Chinese scientist He Jiankui was jailed for creating the world’s first “designer gene-edited babies” in China.

Despite the controversy, Dr. Doudna and Dr. Charpentier said that they hoped the win sends a "positive message to the young girls who would like to follow the path of science, and to show them that women in science can also have an impact through the research that they are performing.”

Written By
ANDY DE
Andy Dé
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