Category Archives: Genetics

Genetics

Planting the milestones of human genetics in Senegal – Nature.com

I remember, after my PharmD graduation, how happy my mother was. She said, Now that you are done with school, you have to set up your own drugstore, find a good husband and settle down. However, my destiny was far from supporting this maternal wish since my aim at that time was to become a medical researcher. I had tremendous support from my eldest brother, Mouhamadou Ndiaye, an eminent professor of cardiac and vascular surgery at the University Cheikh Anta Diop (UCAD). I started with two years training in clinical biochemistry, hematology and immunology at the University of Cocody in the Ivory Coast.

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Planting the milestones of human genetics in Senegal - Nature.com

Genetics

Genetic continuity and change among the Indigenous peoples of … – Nature.com

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Genetics

Flagship Pioneering Unveils Quotient Therapeutics to Create … – PR Newswire

Quotient's Somatic Genomics platform reveals new approaches to treat disease based on the vast genetic variation present in the body's trillions of cells

Company emerges from stealth after two years of platform development with an initial commitment of $50 million from Flagship Pioneering

CAMBRIDGE, Mass., Nov. 21, 2023 /PRNewswire/ -- Flagship Pioneering, thebioplatform innovation company, today unveiled Quotient Therapeutics, a company pioneering somatic genomics, the study of genetic variation at the cellular level, to discover therapeutics informed by new links between genes and disease. Flagship has made an initial commitment of $50 million to advance development of the company's platform following two years of development at Flagship Labs and pursue a pipeline of medicines across a wide range of therapeutic areas and modalities.

"The assumption that we each have a single genome turns out to be off by a trillion-fold," said Geoffrey von Maltzahn, Ph.D., Co-Founder and Chief Executive Officer of Quotient Therapeutics and General Partner, Flagship Pioneering. "All cells accumulate random genetic changes in their DNA, resulting in trillions of unique genomes in the body. Some genetic changes make a cell resistant or vulnerable to disease, while others can cause disease. We started Quotient to study the natural genetics library inside every tissue, discover gene variants that are beneficial, neutral, or disease-causing, and to harness that knowledge to develop the medicines of tomorrow."

Quotient's Somatic Genomics platform utilizes proprietary single molecule, genome sequencing technology to reveal the extensive variation encoded in the somatic genome at unprecedented resolution. Created by Flagship scientists in partnership with leading geneticists at the Wellcome Sanger Institute and the University of Texas Southwestern, this platform is able to study natural selection at the cellular level through four steps: phenotyping of cells from clinical tissue samples, isolation, single cell genotyping, and computation. As a result, naturally selected genes, proteins, and pathways are identified as prospective targets for the development of transformative therapies intended to cure, prevent, or reverse disease. Quotient's approach will enable the development of first-in-class drugs across a broad range of modalities and therapeutic areas, including immune disease, cardiometabolic disease, infectious disease, oncology, neurodegenerative disease, rare disease, and aging.

Jacob Rubens, Ph.D., Co-Founder and President of Quotient Therapeutics and Origination Partner, Flagship Pioneering added, "At Quotient, we're inspired by the maxim that 'Nothing in biology makes sense except in the light of evolution.' Our Somatic Genomics platform measures genetic changes underlying the evolution of cells in the body to make sense of disease, illuminating the path to a wide range of potentially curative medicines. Already, we've created the world's largest somatic genomes dataset, demonstrated the applicability of our platform to multiple therapeutic areas, and translated our genetic discoveries into drug discoveries."

Noubar Afeyan, Ph.D., Founder and CEO, Flagship Pioneering and Co-Founder and Strategic Oversight Board Chairman, Quotient Therapeutics, remarked, "One of the defining characteristics of the modern era of genetics has been the systematic comparison of people's genomes. Today, we stand at the precipice of a new era, enabled by the comparison of the trillions of genomes inside each one of us. Genetics has already created tremendous advances in human health, and Quotient is pioneering the next big leap forward."

Academic co-founders of Quotient include Professor Sir Mike Stratton, MD, PhD, Inigo Martincorena, PhD, and Peter Campbell, PhD, from the Wellcome Sanger Institute, and Hao Zhu, MD, from University of Texas Southwestern. In addition to von Maltzahn and Rubens, Quotient is led by Scott Hayton, Ph.D., Acting Chief Operating Officer, Caroline Fox,M.D., MPH, Senior Vice President, Head of Genetics and Target Discovery, and SimonBrunner, Ph.D., Co-Founder and Head of Platform. Quotient is co-located in Cambridge, MA and Cambridge, UK with research facilities in both cities.

To learn more about Quotient Therapeutics visit http://www.quotient-tx.com.

About Quotient Therapeutics

Quotient Therapeutics is the first company to systematically study the genetic variation and evolution of the trillions of cells inside the human body. The company's Somatic Genomics platform reveals novel links between genes and disease across a broad range of therapeutic areas, enabling the discovery of transformative medicines intended to cure, prevent, or reverse disease. Founded by Flagship Pioneering in 2022, Quotient is backed by experts in the field of somatic genetics.

About Flagship Pioneering

Flagship Pioneering is a biotechnology company that invents and builds platform companies, each with the potential for multiple products that transform human health or sustainability. Since its launch in 2000, Flagship has originated and fostered more than 100 scientific ventures, resulting in more than $90 billion in aggregate value. To date, Flagship has deployed over $3.4 billion in capital toward the founding and growth of its pioneering companies alongside more than $26 billion of follow-on investments from other institutions. The current Flagship ecosystem comprises 41 companies, including Denali Therapeutics(NASDAQ: DNLI),Foghorn Therapeutics(NASDAQ: FHTX),Generate:Biomedicines,Inari,Indigo Agriculture,Moderna(NASDAQ: MRNA),Omega Therapeutics(NASDAQ: OMGA),Sana Biotechnology(NASDAQ: SANA),Seres Therapeutics(NASDAQ: MCRB) andTessera Therapeutics.

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Flagship Pioneering Unveils Quotient Therapeutics to Create ... - PR Newswire

Genetics

Weaponized genomics: potential threats to international and human … – Nature.com

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Genetics

New insights into genetic risk factors for early breast cancer in … – News-Medical.Net

A new research paper was published in Oncotarget's Volume 14 on October 4, 2023, entitled, "Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity."

Breast cancer (BC) is the most common type of cancer among women in Kazakhstan. To date, little data are available on the spectrum of genetic variation in Kazakh women with BC.

In this new study, researchers Gulnur Zhunussova, Nazgul Omarbayeva, Dilyara Kaidarova, Saltanat Abdikerim, Natalya Mit, Ilya Kisselev, Kanagat Yergali, Aigul Zhunussova, Tatyana Goncharova, Aliya Abdrakhmanova, and Leyla Djansugurova from the Institute of Genetics and Physiology, Kazakh Institute of Oncology and Radiology, Al-Farabi Kazakh National University, and Asfendiyarov Kazakh National Medical University aimed to identify population-specific genetic markers associated with the risk of developing early-onset BC and test their association with clinical and prognostic factors.

"To our knowledge, this is the first study using NGS [next-generation sequencing] technology to study the genetic predisposition to early-onset BC women from Kazakhstan and assess their impact on the patients' clinical outcomes."

The study included 224 Kazakh women diagnosed with BC (40 age). Entire coding regions (>1700 exons) and the flanking noncoding regions of 94 cancer-associated genes were sequenced from blood DNA using MiSeq platform. The researchers identified 38 unique pathogenic variants (PVs) in 13 different cancer-predisposing genes among 57 patients (25.4%), of which 6 variants were novel. In total, 12 of the 38 distinct PVs were detected recurrently, including BRCA1 c.5266dup, c.5278-2del, and c.2T>C, and BRCA2 c.9409dup and c.9253del that may be founder in this population. BRCA1 carriers were significantly more likely to develop triple-negative BC (OR = 6.61, 95% CI 2.4417.91, p = 0.0002) and have family history of BC (OR = 3.17, 95% CI 1.148.76, p = 0.03) compared to non-carriers.

"This study allowed the identification of PVs specific to early-onset BC, which may be used as a foundation to develop regional expertise and diagnostic tools for early detection of BC in young Kazakh women."

Source:

Journal reference:

Zhunussova, G., et al. (2023). Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity. Oncotarget. doi.org/10.18632/oncotarget.28518.

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New insights into genetic risk factors for early breast cancer in ... - News-Medical.Net

Genetics

Wow: Geneticists Created an Organism Immune to All Viruses – Popular Mechanics

Viruses are often incredibly hard to treat. Were certainly not strangers to that fact after the last few years. Theyre extremely adaptable and very hard to destroy, making them very dangerous to human health. Antivirals can sometimes help a little, but usuallyyou get a virus, youre stuck with it.

But what if instead of trying to treat these sneaky little beasts, we could stop them in their tracks before they even enter our cells? Create an organism thats basically immune to viruses right off the bat? Well, geneticists at Harvard claim theyve done just that.

In a recent study, a team of researchers announced that they had made an E. coli bacterium immune to all viruses. Well, all they could test in the lab, anyway.

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We cant say its fully virus-resistant, Akos Nyerges, genetics researcher and one of the authors of the study, said in a press release, but so far, based on extensive laboratory experiments and computational analysis, we havent found a virus that can break it.

The researchers decided to take a delete and trick approach in the creation of their super-organism. They first went in and stripped the bacterium of three of its codons, which are little chunks of genetic code. And they didnt just pick at randomthey carefully deleted the codons that viruses latch onto to begin replicating themselves.

So, problem solved, right? Wrong.

It turns out that viruses can bring their own versions of these codons into the cell and bypass the deletions altogether, kind of like bringing a power adapter on an international trip so you can plug your devices into wrong-shaped outlets.

So, in step two, the scientists got a little tricky with RNA. Specifically with tRNA, or transfer RNA. When a virus is trying, to begin the replication process, it basically plugs a strand of tRNA into a codon, and the codon prints out an amino acid. That process creates proteins.

But critically, if the codons print the wrong amino acid, nothing gets made. You just get a string of gibberish instructions that halt the viral duplication process in its tracks. So, the researcher team inserted strands of tRNA into the E. coli that would tell the codons brought in by the viruses to produce the wrong amino acids. Theoretically, the virus could bring in its own tRNA too, but the researchers seem convinced that their tRNA strands win that fight.

With the codons now printing out completely wrong amino acids and the viruss replication instructions being turned into nonsense, the infection was stopped before it even got started. With that success under their belt, the team eventually wants to use their new gene tech to create strands of virus-resistant bacteria that can be used to produce things like insulin.

And who knows? Maybe someday, well be able to extend that tech to ourselves.

Associate News Editor

Jackie is a writer and editor from Pennsylvania. She's especially fond of writing about space and physics, and loves sharing the weird wonders of the universe with anyone who wants to listen. She is supervised in her home office by her two cats.

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Wow: Geneticists Created an Organism Immune to All Viruses - Popular Mechanics

Genetics

Zoonomia: Genetic research reveals all we share with animals … – Sentinel-Tribune

Gunnar Kaasen and with his dog Balto, the heroic dogsled team leader, sit for a portrait in the early 1920s. As a part of the Zoonomia Project, with 11 papers published Thursday, April 27, 2023, in the journal Science, by comparing Baltos genes to those of other dogs, researchers found he was more genetically diverse than modern breeds and may have carried genetic variants that helped him survive harsh conditions. The Zoonomia Project is an international effort comparing the genetic blueprints of an array of animals, including this species, and some of the discoveries were shared in 11 papers published Thursday, April 27, 2023, in the journal Science. (AP Photo, File)

By comparing the genetic blueprints of an array of animals, scientists are gaining new insights into our own species and all we share with other creatures.

One of the most striking revelations is that certain passages in the instructions for life have persisted across evolutionary time, representing a through line that binds all mammals including us.

The findings come from the Zoonomia Project, an international effort that offers clues about human traits and diseases, animal abilities like hibernation and even the genetics behind a sled dog named Balto who helped save lives a century ago.

Researchers shared some of their discoveries in 11 papers published Thursday in the journal Science.

David OConnor, who studies primate genetics at the University of Wisconsin-Madison, said the studies tackle deep questions.

Its just the wonder of biology, how we are so similar and dissimilar to all the things around us, said OConnor, who wasnt involved in the research. Its the sort of thing that reminds me why its cool to be a biologist.

The Zoonomia team, led by Elinor Karlsson and Kerstin Lindblad-Toh at the Broad Institute of MIT and Harvard, looked at 240 species of mammals, from bats to bison. They sequenced and compared their genomes the instructions organisms need to develop and grow.

They found that certain regions of these genomes have stayed the same across all mammal species over millions of years of evolution.

One study found that at least 10% of the human genome is largely unchanged across species. Many of these regions occur outside the 1% of genes that give rise to proteins that control the activity of cells, the main purpose of DNA.

Researchers theorized that long-preserved regions probably serve a purpose and are likely what they call regulatory elements containing instructions about where, when and how much protein is produced. Scientists identified more than 3 million of these in the human genome, about half of which were previously unknown.

Scientists also focused on change within the animal kingdom. When they aligned genetic sequences for species and compared them with their ancestors, Karlsson said, they discovered that some species saw a lot of changes in relatively short periods of time. This showed how they were adapting to their environments.

One of the really cool things about mammals is that at this point in time, theyve basically adapted to survive in nearly every single ecosystem on Earth, Karlsson said.

One group of scientists looked for genes that humans dont have but other mammals do.

Instead of focusing on new genes that might create uniquely human traits, we kind of flipped that on its head, said Steven Reilly, a genetics researcher at Yale University.

Losing pieces of DNA can actually generate new features, Reilly said.

For example, he said, a tiny DNA deletion between chimps and humans caused a cascade of changes in gene expression that may be one of the causes of prolonged brain development in humans.

Another study focused on the fitness of one well-known animal: Balto.

Scientists sequenced the genome of the sled dog, who led a team of dogs carrying a lifesaving diphtheria serum to Nome, Alaska, in 1925. His story was made into a 1995 animated feature film and a statue of the pup stands in New Yorks Central Park.

By comparing Baltos genes to those of other dogs, researchers found he was more genetically diverse than modern breeds and may have carried genetic variants that helped him survive harsh conditions. One of the authors, researcher Katherine Moon of the University of California, Santa Cruz, said Balto gives us this guide through comparative genomics, showing how genetics can shape individuals.

OConnor said he expects Zoonomia to yield even more insights in the future.

To have these tools and to have the sort of audacity to ask these big questions helps scientists and others learn more about life around us, he said.

___

The Associated Press Health and Science Department receives support from the Howard Hughes Medical Institutes Science and Educational Media Group. The AP is solely responsible for all content.

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