Scientists have long suspected connections between heredity and disease, dating back to Hippocrates, who observed certain diseases “ran in families.” However, through the years, scientists have kept getting better at finding ways to also understand the source of those genetic links in the human genome.

EMBL scientists and collaborators have now developed a tool that goes beyond current single-cell technology by capturing genomic variations and RNA together in the same cell, increasing precision and scalability compared to previous technologies. Able to determine variations in non-coding regions of the genome, this tool transforms how scientists can study the parts of DNA where variations linked to disease are most likely to occur. This single-cell tool, with its high precision and throughput, represents an important advance in drawing correlations between genetic variants and disease.

“This has been a long-standing problem, as current single-cell methods to study DNA and RNA in the same cell have had limited throughput, lacked sensitivity, and are complicated,” said Dominik Lindenhofer, the lead author on a new paper about SDR-Seq published in Nature Methods and a postdoctoral fellow in EMBL’s Steinmetz Group.

The advent of genetically edited porcine-to-human xenotransplantation has predominantly focused on cardiac and renal applications, with no reported cases of porcine-to-human liver xenotransplantation. This study presents the world’s first successful genetically modified pig auxiliary liver xenotransplantation in a living human, achieving an unprecedented survival of 171 days, and provides valuable insights into the critical factors influencing the procedure’s success.

New treatment targeting CLIC5 gene shows promise in preserving sensory cells in the inner ear, offering hope for millions affected by genetic hearing and balance disorders.