All articles tagged with #human genome project
The Human Genome Project, which aimed to sequence the human genome, used DNA from anonymous volunteers but predominantly relied on one donor, RP11, without his knowledge. This raises ethical questions about consent and transparency in genetic research.
The Human Pangenome Reference Consortium has created a more inclusive human reference genome by assembling genomic sequences of 47 individuals from around the world, revealing almost 120 million DNA base pairs previously unseen. By providing a more accurate representation of human genetic diversity, researchers can refine their understanding of the link between genes and diseases, accelerate clinical research, and ultimately help address health disparities. The pangenome is public and can be used by scientists around the world as a new standard human genome reference. The HPRC’s ultimate goal is to produce high-quality, nearly error-free genomes from at least 350 individuals from diverse populations by mid-2024.
Researchers have published a draft human ‘pangenome’ that captures more of human diversity than has been previously available. The international project aims to map the entirety of human genetic variation, to create a comprehensive reference against which geneticists will be able to compare other sequences. The draft pangenome represents a collection of sequences from a diverse selection of 47 people from around the globe, including individuals from Africa, the Americas, Asia and Europe. However, ethical considerations surrounding the effort to make genome research more inclusive have been highlighted.
The human genome contains 20,000 protein-coding genes, but they account for just 2% of our DNA. The remaining 98% of our DNA became known as dark matter, or the dark genome, a mysterious melee of letters with no obvious meaning or purpose. Now, two decades on, we have the first inklings of the role of the dark genome. Its primary function appears to be regulating the decoding process, or expression, of protein-making genes. It helps to control how our genes behave in response to all the environmental pressures our bodies face throughout our lives, ranging from diet to stress, pollution, exercise, and how much we sleep, a field known as epigenetics.
Richard Gibbs, founder and director of the Baylor College of Medicine Human Genome Sequencing Center, reflects on the Human Genome Project, which was completed 20 years ago. He discusses the early days of studying DNA, the evolution of genetics and genomics, and the future of the field. Gibbs believes that genetics will continue to drive better drugs, better therapy, and better health. He also notes that the movie Gattaca was a profound representation of the issues surrounding genetics and that real-life stories from ancestry testing services are currently compelling people to take an interest in the field.
The Human Genome Project, which sequenced the first nearly complete human genome in 2003, has had a significant impact on genetics research and scientific collaboration. The project ushered in a new era of genetics research, with advancements in speed and efficiency in sequencing technology. However, some of the expectations fueled by the project were too lofty, and our genome often only plays a small or negligible role in why we get sick or experience something in a particular manner. Nevertheless, the potential of genetics is still significant, and personalized medicine is a concept that could be realized in the future.