2026 Haldane Lecture: скачать в хорошем качестве

2026 Haldane Lecture:

The 2026 Haldane Lecture will be delivered by Professor Dame Kay Davies. Title: Genomics and rare diseases: from gene to clinic Abstract: It is becoming increasingly clear that genomics is beginning to have a major impact in guiding diagnoses and treatment of many disorders. As the cost of DNA sequencing continues to drop and more patient genomes are sequenced, the challenge is to deliver this knowledge to the clinic. Sequencing of DNA from patients with rare disease is revealing novel druggable pathways. More genetic tools for treating disease are being developed. Some genetic approaches, once thought to be pipedreams for rare diseases such as Duchenne muscular dystrophy, are now in the clinic or showing promise in clinical trials. Many of these methodologies are being applied more widely for more common diseases. The era of genomic medicine has arrived. The challenge for the future will be to not only develop more treatments, but also to ensure equal access for patients across the globe. The pace of change in human genetics research over the last few decades has been rapid and major scientific discoveries have proceeded in tandem with breakthroughs in the development of enabling technologies, particularly genome sequencing. Together, these advances are transforming our understanding of how genes underpin biological processes in health and disease and have the potential to generate major health benefits in the coming decades. The challenge will be to use personal genomic information to provide care plans at every stage of disease. The first draft of the human genome sequence was completed in 2000 and current sequencing projects are rapidly becoming tools in the diagnosis of rare mendelian disorders. Sequencing the human genome took a decade to complete and cost $3bn. Since then, the price of sequencing has dropped rapidly to where it stands now at less than $1000 per genome and whole genomes can be sequenced in day. Even before the human genome sequence was complete, it was declared to be a landmark in medical research. Many people feel that the genomics revolution is long overdue and has not lived up to its promise. The pace of technological change and its impact on the treatment of genetic disorders through personalised medicine is dramatically illustrated by looking at progress in the treatment of Duchenne muscular dystrophy (DMD). Ten years ago, patient groups and parents were told that effective treatments might be on the horizon. Today, there are treatments are having a major impact in the clinic. More importantly, the genetic approaches are also applicable to many other rare genetic disorders. However, many of the therapies are expensive. The challenge for the future will be to not only develop more treatments, but also to ensure equal access for patients across the globe. PLEASE NOTE: Every effort is made to credit copyright in these events, but we would always be delighted to hear from copyright owners to include any credits due in future.