BEGIN:VCALENDAR
VERSION:2.0
PRODID:-//132.216.98.100//NONSGML kigkonsult.se iCalcreator 2.20.4//
BEGIN:VEVENT
UID:20250910T072008EDT-4619CIVguc@132.216.98.100
DTSTAMP:20250910T112008Z
DESCRIPTION: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 diagno
 sis and treatment of neuromuscular diseases and for his research into the 
 causes and possible cures for neuromuscular diseases\, and especially musc
 ular dystrophy. His colleagues at The Neuro organize this lecture on recen
 t developments in neuromuscular disease research and treatment\, as a trib
 ute to a friend\, mentor\, and scientific leader.\n\nRegistration required
  for in-person attendance: link \n\n(once registered\, go to George Karpat
 i Lecture menu item\, click on the 'Register' button to indicate you will 
 attend in person)\n\n\nSpeaker: Henry Houlden\, MD\, PhD \n\nProfessor of 
 Neurology\, Department of Neuromuscular Diseases\, UCL Queen Square Instit
 ute of Neurology\, United Kingdom\n\nAbstract: The 100\,000 Genomes Projec
 t (100K) was a British initiative to sequence and study the role our genes
  play in health and disease. The 100K recruitment and sequencing were comp
 leted in December 2018 and the pipeline and results have been translated i
 nto many rare disease initiatives that has now been adopted by the NHS for
  genome sequencing in clinical practice.\n\nIn the neurogenetics clinic an
 d 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 identificatio
 n 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 w
 ith 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-co
 ding genomic regions.\n\n\n \n
DTSTART:20220412T200000Z
DTEND:20220412T210000Z
LOCATION:CA\, QC\, Montreal\, Jeanne Timmins Amphitheatre\, The Neuro\, 380
 1 University Street
SUMMARY:George Karpati Lecture: How the 100\,000 genomes has transformed re
 search and clinical practice (in-person and virtual) 
URL:/neuro/channels/event/george-karpati-lecture-how-1
 00000-genomes-has-transformed-research-and-clinical-practice-person-and-33
 8058
END:VEVENT
END:VCALENDAR