We used to imagine DNA as the book of life, the code, the Rosetta stone of Homo sapiens. But the repertoire of metaphors needs updating. Today, our species portrait has taken on the appearance of a network of nodes and relationships. Welcome to the age of the pangenome: the collective genome (pan in Greek means everything) that aspires to become more and more complex, plural, cosmopolitan and inclusive.
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He was the first patient to get a CRISPR therapy for muscular dystrophy. The first to receive a CRISPR treatment made specifically for him. And also the first to try a CRISPR approach that did not aim to change a DNA sequence but only its expression (epigenetic editing). Six months after Terry Horgan’s passing, his brother Richard disclosed the first information on the cause of death.
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The third – and perhaps final – act of the Human Genome Editing Initiative ended last week. The first summit (Washington 2015) was held amid enthusiasm for the invention of CRISPR, with the aim of fostering a constructive dialogue between science and society. The second edition (Hong Kong 2018) was dominated by the birth in China of the first edited human beings. The main points in the agenda of geneticists and bioethicists meeting a few days ago (London 2023) was to overcome the shock and focus on the next challenges: broadening the range of treatable diseases, reducing the costs of therapies, simplifying them so they can be administered anywhere in the world, and reach as many sick people as possible.
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The pandemic has accelerated progress in the field of lipid nanoparticles (LNP), and now CRISPR-based treatments are set to reap the benefits.
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The latest challenge is protecting damaged tissue immediately after a heart attack with the help of base editing (see the paper published in Science by Eric Olson’s group at the University of Texas Southwestern Medical Center). But there are hundreds of devastating diseases that affect the heart or other muscles and are caused by mutations that could be fixed by CRISPR-based tools (see this paper in Science Trsnslational Medicine for example). From Duchenne dystrophy to cardiomyopathies, some preliminary results are very encouraging.
Learn more reading the article on the Science paper published by El Pais and watching this video with Olson explaining his studies, especially on Duchenne muscular dystrophy.
Nature suggests a number of science events to watch for in the new year. Among the developments set to shape biomedical research in 2023 we will hopefully welcome next-generation mRNA-based vaccines, the updated list of WHO priority pathogens and promising candidate drugs for Alzheimer’s. Gene editing is also not missing, with the the first approval of a CRISPR-based therapy a mere 10 years after the Doudna-Charpentier invention (more about exa-cel here).
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Nutritional improvement of crops is one of the fields set to gain from the advent of genome editing. Let’s take vitamin D3. People suffering from its deficiency in the world number about one billion. Plants do not contain it naturally, but some of them (solanaceae) are able to produce its precursor (cholesterol) within a biosynthetic pathway that leads to the synthesis of certain secondary metabolites (glycoalkaloids). Luckily, they can be induced to accumulate provitamin D3 by switching off the gene responsible for this reaction.
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Hopes are high for an experimental immunotherapy recently described in Nature, possibly the most complex treatment ever developed and tested on humans. The results of the small trial carried out by the California-based PACT Pharma look promising, even if the success is more technical and conceptual than clinical.
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The road from clinical trials to regulatory green light now appears to be downhill for the treatment for sickle cell anemia developed by CRISPR Therapeutics, the company co-founded by Emmanuelle Charpentier. We knew it as CTX001 but it has changed its name to exa-cel (which stands for exagamglogene autotemcel). It was one of the first CRISPR-based gene therapies to enter clinical trials, in 2019. It changed the lives of Victoria Gray and dozens of sickle cell anemia and thalassemia patients enrolled in several countries. Now it also leads the way in the late stage of the regulatory process, both in Europe and the United States, and could come to market first, in 2023. For more information see the press-release by Vertex, that collaborates at exa-cel manufacturing, regulatory and commercialization.
The scientific renaissance is still there, but the commercial abandonnement is already going on. Patients affected by rare diseases and their families are worried they won’t be able to get treatments that are safe and effective but unprofitable for drugmakers. Take a look at the story of Jakob Kamil Guziak, recently told by Business Insider.
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CRISPeR FRENZY 