The Annual George Karpati Lecture commemorates a world-renowned neurologist and clinician-scientist who spent his extraordinary career at The Neuro. George was respected for his great contributions to the diagnosis and treatment of neuromuscular diseases and for his research into the causes and possible cures for neuromuscular diseases, and especially muscular dystrophy. His colleagues at The Neuro organize this lecture on recent developments in neuromuscular disease research and treatment, as a tribute to a friend, mentor, and scientific leader.
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Speaker: Henry Houlden, MD, PhD
Professor of Neurology, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, United Kingdom
Abstract: The 100,000 Genomes Project (100K) was a British initiative to sequence and study the role our genes play in health and disease. The 100K recruitment and sequencing were completed in December 2018 and the pipeline and results have been translated into many rare disease initiatives that has now been adopted by the NHS for genome sequencing in clinical practice.
In the neurogenetics clinic and research lab the 100K has been a gift to many projects and when combined with a number of rare disease collaborations has led to the identification of many rare disease genes which I will give examples. Genome sequencing in many patients has also revealed previously camouflaged genomic regions such as the repeat expansion disorders in known and novel repeats. Even with these advanced we have still explained only 70% of the patients in the 100K, therefore the next step is to combined advanced techniques such as long-read sequencing and optical genome mapping to investigate the non-coding genomic regions.