The new company has also raised $75 million that will support the development of epigenetic editing therapies for hepatitis B and other disorders.

Indiana University School of Medicine researchers have uncovered compelling evidence that children with primary ciliary dyskinesia (PCD), a rare genetic disorder affecting airway function, are significantly more likely than children without PCD to have asthma. The findings, recently published in a JAMA Network Open research letter, highlight the importance of routine asthma screening for children with PCD and suggest some children with asthma may have undiagnosed PCD.

An estimated 1 in 10,000 to 30,000 people in the United States have PCD. It affects the microscopic, hair-like structures called cilia that line the airways and help clear mucus, leading to an increased risk of serious breathing problems and infections in people with the inherited condition.

“The connection between PCD and asthma has not previously received much attention,” said Benjamin Gaston, MD, the Billie Lou Wood Professor of Pediatrics at the IU School of Medicine, who co-led the study. “Our data analysis revealed an undeniable link, showing children with PCD were 22 times more likely to have asthma compared to children without PCD characteristics.”

The preprint, not yet peer-reviewed, is the latest from a global consortium that hunts down potential new genes. Ever since the Human Genome Project completed its first draft at the turn of the century, scientists have tried to decipher the genetic book of life. Buried within the four genetic letters—A, T, C, and G—and the proteins they encode is a wealth of information that could help tackle our most frustrating medical foes, such as cancer.

The Human Genome Project’s initial findings came as a surprise. Scientists found less than 30,000 genes that build our bodies and keep them running—roughly a third of that previously predicted. Now, roughly 20 years later, as the technologies that sequence our DNA or map proteins have become increasingly sophisticated, scientists are asking: “What have we missed?”

The new study filled the gap by digging into relatively unexplored portions of the genome. Called “non-coding,” these parts haven’t yet been linked to any proteins. Combining several existing datasets, the team zeroed in on thousands of potential new genes that make roughly 3,000 miniproteins.

One year of treatment with the targeted drug olaparib improves long-term survival in women with high-risk, early-stage breast cancer with mutations in BRCA1 or BRCA2 genes, new results from a major clinical trial show.

Ten years since the first patient was recruited, new findings from the phase III OlympiA trial – presented at San Antonio Breast Cancer Symposium (SABCS) 2024 – show that adding olaparib to standard treatment cuts the risk of cancer coming back by 35 per cent, and the risk of women dying by 28 per cent.

After six years, 87.5 per cent of patients who were treated with the drug were still alive compared with 83.2 per cent of those who were given the placebo pills.

Professor Andrew Tutt at The Institute of Cancer Research, London, and King’s College London is the global lead investigator and Chair of the Steering Committee for the OlympiA study, and was also involved in early laboratory research on PARP inhibitors such as olaparib, and their subsequent clinical development. The Breast International Group (BIG) coordinated the international OlympiA study, involving 671 study locations, globally across multiple partners. BIG coordinated the trial’s UK sites through the ICR Clinical Trials and Statistics Unit (ICR-CTSU).