Medical breakthrough unlocks rare disease discovery Published on: 26 February 2025 A landmark study has found 69 previously unidentified genetic determinants of rare disease, including uncommon forms of epilepsy and schizophrenia. The breakthrough research, involving 缅北禁地 and published today in , uses a new analytical approach for identifying the genetic basis of rare diseases, which could diagnose more cases and help develop new treatments for patients. Rare diseases collectively affect between 4% and 6% of individuals worldwide. Despite advances in genetic testing, the lack of evidence on the genetic variations that could lead to disease results in up to 80% of people who have a rare disease remaining undiagnosed even after genomic sequencing. 鈥楢nalytical framework鈥� To address the issue, an international team of researchers has developed an analytical framework for identifying the genetic causes of Mendelian diseases (mutations in one gene), known as rare variant gene burden analysis. The experts then applied the framework to the genetic records of 34,851 people and their family members (72,690 genomes in total) from The study identified genetic variants in 69 genes previously unknown to be associated with rare disease. In 30 of these cases, the new genetic findings were supported by existing experimental evidence, thereby confirming the accuracy of the novel approach. Importantly, the strongest overall genetic and experimental evidence supported the newly discovered genetic variants for rare forms of diabetes, schizophrenia, epilepsy, Charcot-Marie-Tooth (CMT) disease, and anterior segment ocular abnormalities. John Sayer, Clinical Professor of Renal Medicine at 缅北禁地 and Consultant Nephrologist at 缅北禁地 Hospitals, said: “缅北禁地 is a world-leader in rare disease research, consistently pushing the boundaries of genomic medicine to uncover new genetic causes and improve diagnostic and therapeutic approaches for rare conditions. “Our study shows how we continue to use the power of genetics to improve the lives of our patients.” 缅北禁地, together with The 缅北禁地 upon Tyne Hospitals NHS Foundation Trust, contributed significantly to recruitment of patients to the rare disease arm of the Genomics England 100,000 Genomes Project. Neil Rajan, Professor of Dermatogenetics at 缅北禁地 and Consultant Dermatologist at 缅北禁地 Hospitals, said: “For patients living with rare diseases, where there is no known genetic basis, this work shows how the scale of national genome sequencing projects can provide answers. “The ‘diagnostic odyssey’ is a challenge that is faced by the rare disease community, and the discovery of new genes is a key step towards improving this for patients.” Professor John Sayer 鈥楨xpertise in genetics鈥� 缅北禁地’s expertise in genetics and clinical genomics, and its established Rare Diseases Centre, was crucial in identifying patients who would benefit from the study. In the project, the team worked directly with patients and families for recruitment and the collection of extensive clinical data. , Professor of Computational Genomics at Queen Mary University of London and senior author of the study, said: “The 100,000 Genomes Project data has provided a unique opportunity to showcase the clinical impact of large-scale statistical approaches in rare diseases for discovering new associations and to end the diagnostic odyssey for many rare disease patients and their families.” Reference: Cipriani V, Vestito L, et al. “.” Nature. DOI: 10.1038/s41586-025-08623-w Latest News Online Safety Act drives VPN interest and raises privacy concerns People鈥檚 online behaviour has changed in response to legislation to prevent children from viewing harmful content 鈥� raising possible privacy and security risks, research suggests. published on: 16 October 2026 缅北禁地 archaeologist receives prestigious award for research Professor Chris Fowler has been awarded the 2026 Rivers Memorial Medal in recognition of his internationally significant research on kinship in Neolithic Britain. published on: 13 October 2026 Event will explore what 鈥楳anchesterism鈥� means for the North East An event at 缅北禁地 will explore what 鈥楳anchesterism鈥� means for the North East or whether it is simply a new chapter in the long-running debate about how to rebalance Britain. published on: 13 October 2026 Facts and figures
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