Genedx LLC partnered with Illumina Inc. to test whether Illumina's constellation map read technology could shed light on hard-to-detect variants that appear in rare diseases. Constellation met or exceeded the ability of other sequencing methods to detect variants implicated in multiple disorders and worked across a range of sample types, a study presented at the American Society for Human Genetics (ASHG) Annual Meeting in Boston on Oct. 15 found.
The largest genome-wide association study to date of myalgic encephalomyelitis/chronic fatigue syndrome has identified eight genetic loci that are significantly associated with the chronic debilitating condition. Onset of ME/CFS often is traced back to an infection and four of the loci involve genes that are expressed in response to viral or bacterial infections.
The human genome has yielded another round of secrets with the publication of two back-to-back papers in Nature on July 23, 2025. Both studies re-sequenced probands from the open-access 1000 Genomes Project, which was one of the first projects to sequence individuals from diverse populations.
The human genome has yielded another round of secrets with the publication of two back-to-back papers in Nature on July 23, 2025. Both studies re-sequenced probands from the open-access 1000 Genomes Project, which was one of the first projects to sequence individuals from diverse populations. While one paper “goes very deep and tries to reconstruct a few genomes to basically near completion,” the other specifically looked at structural variants in a larger number of genomes. Together, they give new insights into genome variation.
Regeneron Pharmaceuticals Inc. was the successful bidder for 23andme Holding Co.’s personal genome service, total health and research services business lines, including its biobank and associated assets, in the bankruptcy auction to sell 23andme's assets.
Cellecta Inc. made remote diagnostics and decentralized clinical trials significantly easier with the launch of its Drivermap Exp assay. The microsampling kit provides a “molecular snapshot” of 19,000 human protein-encoding genes from just 30 microliters of dried whole blood.
Icelandic genomics company Arctic Therapeutics has closed a €26.5 million (US$27.6 million) series A, enabling it to assess if its lead drug AT-001, designed to treat a rare inherited amyloid disease, also could be used to treat more common forms of dementia, including Alzheimer’s disease. The program is currently in a phase IIb/III European trial in cystatin C amyloid angiopathy, an ultra-rare disease found only in Iceland that is caused by the L68Q mutation in the cystatin C gene.
Fourteen global pharma companies are getting together to conduct the largest proteomics study to date, analyzing 600,000 blood samples held in the UK Biobank to assess the levels of 5,400 different proteins.
Fourteen global pharma companies are getting together to conduct the largest proteomics study to date, analyzing 600,000 blood samples held in the UK Biobank to assess the levels of 5,400 different proteins.
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.
