A U.K. study has uncovered distinctive genetic drivers of type 2 diabetes in South Asians that lead to faster development of complications, the need for earlier insulin replacement therapy and a weaker response to some widely prescribed drugs. That points to the need to refine care pathways. But in addition, the research provides a potent illustration of how the under-representation in genomics databases of people who are not of white European origin can skew results and be a source of discrimination.

Humans love to think of our species as unique. But on a genetic level, such uniqueness is surprisingly hard to find. And while that may be a blow to the ego, it also means that an evolutionary lens is one way to search for insights into human diseases. Animals are “adapted to use the same genes that you and I have, but in very different ways,” Ashley Zehnder told BioWorld. Zehnder is co-founder and CEO of Fauna Bio Inc., which uses comparative genomics to identify gene networks that underlie disease resistance in different animal species.

If we unraveled the DNA of the 46 chromosomes of a single human cell, it would barely measure 2 meters. If we did the same with the rest of the body, if we aligned the 3 billion base pairs of its 5 trillion cells, we could travel the distance from the Earth to the Sun more than 100 times. It seems unreachable. However, that is the unit of knowledge of the large sequencing projects achieved in 2023.

If we unraveled the DNA of the 46 chromosomes of a single human cell, it would barely measure 2 meters. If we did the same with the rest of the body, if we aligned the 3 billion base pairs of its 5 trillion cells, we could travel the distance from the Earth to the Sun more than 100 times. It seems unreachable. However, that is the unit of knowledge of the large sequencing projects achieved in 2023. From the generation of the human pangenome to cell-by-cell maps of the brain and kidneys, scientists this year have completed several omics collaborative projects stored in large international databases. Now, what’s the plan?

If we unraveled the DNA of the 46 chromosomes of a single human cell, it would barely measure 2 meters. If we did the same with the rest of the body, if we aligned the 3 billion base pairs of its 5 trillion cells, we could travel the distance from the Earth to the Sun more than 100 times. It seems unreachable. However, that is the unit of knowledge of the large sequencing projects achieved in 2023. From the generation of the human pangenome to cell-by-cell maps of the brain and kidneys, scientists this year have completed several omics collaborative projects stored in large international databases. Now, what’s the plan?

Launching a company based on knowledge that “the fundamental principle that most people hold to be true is off by a trillion” is a rare opportunity, said Jake Rubens, co-founder and president of Quotient Therapeutics Inc., a company that emerged from stealth this week, backed by two years of platform development and a $50 million investment from Flagship Pioneering.

Launching a company based on knowledge that “the fundamental principle that most people hold to be true is off by a trillion” is a rare opportunity, said Jake Rubens, co-founder and president of Quotient Therapeutics Inc., a company that emerged from stealth this week, backed by two years of platform development and a $50 million investment from Flagship Pioneering.

The human genome, the sequence that represents the DNA of our species, was built with a single individual as a model. This all-in-one standard didn’t include the gene variations that make us different or explain why some people develop certain diseases. Four simultaneous studies from the Human Pangenome Reference Consortium have published a sequence based on 47 individuals, beginning to capture the genetic diversity that defines humans.

A method for parallel sequencing of single-cell extrachromosomal circular DNA (ecDNA) and full-length mRNA transcriptomes has enabled new insights into the roles of ecDNA in cancer progression, researchers from Charité hospital and the Max Delbrück Center for Molecular Medicine reported in Nature Genetics on May 8, 2023. Circular DNAs are present in at least a third of cancer cells, and their presence correlates with poor prognosis in many cases. They can carry driver genes that have separated themselves from their chromosome of origin, and some research suggests that they serve as “reserve copies” of driver genes. Boundless Bio Inc. is in phase I trials targeting ecDNAs.