A new study helps explain the role of genetic variation in shaping gene regulation in the Indonesian archipelago, one of the most diverse regions in the world. “This study is the only study of splicing from Southeast Asian populations. There is basically no data from this part of the world,” study author Irene Gallego Romero told BioWorld. For drug discovery, most of the people that have historically participated in clinical trials are of European ancestry, and scientists are just beginning to study African populations to better understand genetic differences in these populations, said Romero, a population geneticist and biological anthropologist at the University of Melbourne.
Scientists from the PsychENCODE Consortium have analyzed the brain transcriptome in a coordinated series of studies to map all the cell types, genes, epigenetic factors, and molecular pathways involved in different psychiatric disorders. After a first set of projects based on bulk analysis, the second phase of this project included 14 simultaneous publications that revealed the cellular atlas of post-traumatic stress disorder and major depressive disorder, among others.
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?
The vast variety of tumors makes each cancer a world. For researchers, understanding the commonalities and divergences in their molecular underpinnings could help find successful treatments. Scientists from the Clinical Proteomic Tumor Analysis Consortium (CPTAC) have addressed these similarities and differences in 10 different types of cancer with two proteogenomic studies to unravel the genes that lead to cancer and the galaxy of interactions that regulate them.
Francis Collins, director of the U.S. NIH, said in a public forum that the agency is "really bullish" about precision medicine. However, while precision medicine requires mounds of data, which soon may be available, Collins said the NIH All of Us research program has drawn the interest of more than 300,000 willing participants to date, adding that the target enrollment of 1 million should be accomplished before the end of 2022.