MAY 11, 2017 1:30 PM PDT

Pandora's Genome: Making the Revolution Routine

Speaker

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
MAY 11, 2021 10:00 AM PDT
C.E. CREDITS
MAY 11, 2021 10:00 AM PDT
Date: May 11, 2021 Time: 10:00zm PDT Your samples are some of the most valuable assets in the laboratory. After spending countless hours on extraction and preparation, your conclusions could...
JUN 09, 2021 7:00 AM PDT
C.E. CREDITS
JUN 09, 2021 7:00 AM PDT
Date: June 9, 2021 Time: 09 June 2021, 7am PDT, 10am EDT, 4pm CEST cells with dramatic implications on the validity of past cell culture related research. The fact that at least 509 cell lin...
APR 21, 2021 5:00 PM CEST
APR 21, 2021 5:00 PM CEST
Date: April 21, 2021 Time: 8:00am (PDT), 11:00am (EDT), 5:00pm (CEST) Spatial Answers Trilogy - Spatial Answers in Immunology Immunology Researchers share their Spatial Discoveries in SARS-C...
JUN 22, 2021 10:00 AM PDT
Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
C.E. CREDITS
JUN 22, 2021 10:00 AM PDT
Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
Date: June 22, 2021 Time: 10:00am (PDT), 1:00pm (EDT) Antimicrobial resistance (AMR) has emerged as one of the principal public health problems of the 21st century. It threatens the effectiv...
MAR 16, 2021 10:00 AM PDT
C.E. CREDITS
MAR 16, 2021 10:00 AM PDT
Date: March 16, 2021 Time: 10:00am (PST) Scientific progress and breakthroughs today are often too expensive for most institutions to acquire. Each year, the National Institutes of Health (N...
JUL 15, 2021 9:00 AM PDT
Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
JUL 15, 2021 9:00 AM PDT
Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
Date: July 15, 2021 Time: 9:00am (PDT), 12:00pm (EDT) The Pisces workflow robust, easy-to-use, end-to-end multi-omics solution for highly multiplexed targeted Spatial RNA analysis. VeranomeB...
MAY 11, 2017 1:30 PM PDT

Pandora's Genome: Making the Revolution Routine


Specialty

Personalized Medicine

Dna

Big Data

Research And Development

Tumor

Cancer Research

Cancer

Biomarkers

Oncology

Gene Sequencing

Research

Drug Discovery

Mass Cytometry

University

Cell Culture

Geography

Asia50%

Europe50%

Registration Source

Website Visitors100%

Job Title

Student100%

Organization

Academic Institution50%

Other50%


Show Resources
Loading Comments...
Show Resources
Attendees
  • See more