MAY 11, 2017 01:30 PM PDT

Pandora's Genome: Making the Revolution Routine

C.E. CREDITS: P.A.C.E. CE | Florida CE
Speakers
  • Clinical Director, Belfatrust
    Biography
      Dr Shane McKee is a Consultant in Genetic Medicine at Belfast Health & Social Care Trust in Northern Ireland. He has a long-standing clinical and research interest in the diagnosis and management of ultra-rare genetic syndromes and neurodevelopmental conditions. He has been heavily involved in the DDD (Deciphering Developmental Disorders) Study, which sequenced the exomes of almost 14,000 patients in the UK to determine the genetic architecture of birth defects and intellectual disability presenting in UK clinics. He is currently Principal Investigator for the Northern Ireland contribution to the UK 100,000 Genomes Initiative, and is working with colleagues to advance genomic testing in NI, making it more accessible as a diagnostic tool. His other main interest is in the use of digital technology to improve healthcare, and he is the Chief Clinical Information Officer for the Belfast Trust.

    Abstract:

    Much has been said about the promise of Next Generation Sequencing (NGS) to revolutionise diagnosis of rare diseases, and there are many examples of success in this arena. However, the majority of NGS is still being carried out either via recruitment to specific research studies, or as an add-on for very complex cases being seen in large units with strong academic links. Often, genome sequencing comes at the end of a long and expensive diagnostic odyssey. The challenge we face is this: how do we "left-shift" genomics to the more routine clinical scenarios that most of us work in, and turn it into a (phenomenally rich) component of the background clinical information we have at hand when assessing a patient? Drawing on lessons from the UK 100,000 Genomes Inititative and the UK Deciphering Developmental Disorders (DDD) Study, I will apply a UK perspective to this challenge, and try to paint a picture of a world where patients with rare diseases can rapidly avail of management strategies informed by, and tailored to, their genomes.


    Show Resources
    You May Also Like
    SEP 05, 2019 04:00 PM CEST
    C.E. CREDITS
    SEP 05, 2019 04:00 PM CEST
    DATE: September 5, 2019TIME: 7:00am PT, 10:00am ET, 4:00pm CEST PCR (Polymerase Chain Reaction) has gone through a massive evolution since its development in 1983. Besides it...
    MAY 16, 2019 04:00 PM CEST
    C.E. CREDITS
    MAY 16, 2019 04:00 PM CEST
    DATE: May 16, 2019TIME: 7:00am PDT, 10:00am EDT, 4:00pm CEST The emergence of NGS is revolutionizing the microbiological sciences and transforming medicine. Deep sequencing has...
    JUN 05, 2019 05:00 PM CEST
    C.E. CREDITS
    JUN 05, 2019 05:00 PM CEST
    DATE: June 5, 2019TIME: 8:00am PDT, 11:00am EDT, 5:00pm CEST Eukaryotic cell cultures respond to the most subtle influence. Apart from the risk of contamination, minimal chan...
    NOV 18, 2019 07:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    NOV 18, 2019 07:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: November 18, 2019TIME: 7:00am PST, 11:00am EST, 4:00pm CEWT How often do you pipette in your cell culture lab every day? Usually, we do it so often that we tend stop th...
    OCT 02, 2019 11:00 AM PDT
    OCT 02, 2019 11:00 AM PDT
    DATE: October 2, 2019TIME: 11:00am PDT, 2:00pm EDT Ditch the Excel spreadsheets and manage your molecular workflows entirely in your LIMS Achieve configuration of molecular workf...
    AUG 27, 2019 09:00 AM PDT
    C.E. CREDITS
    AUG 27, 2019 09:00 AM PDT
    DATE: August 27, 2019 TIME: 9:00am PDT, 12:00pm EDT Immunotherapies targeting PD-1 or PD-L1 have proven remarkably effective for treating cancer in some patients, with considerabl...
    Loading Comments...
    Show Resources