Semelhante a ELIXIR and the Grand Challenges presentation given by Dame Prof Janet Thornton, EMBL-EBI Director at ELIXIR launch event 18th December 2013
Mark Caulfield (Genomics England) - Understanding how genomics will transform...NHShcs
Semelhante a ELIXIR and the Grand Challenges presentation given by Dame Prof Janet Thornton, EMBL-EBI Director at ELIXIR launch event 18th December 2013 (20)
10. ELIXIR
ELIXIR and Health Challenges
Janet Thornton
European Life Sciences Infrastructure for Biological Information
www.elixir-europe.org
11. Current Human Variation Projects
•
•
•
•
•
•
Many disease cohorts
100,ooo whole genomes in UK
Finnish Project - to sequence 8000 Finns
Faroe Islands – to sequence all population (50K)
German and Spanish large scale cohorts
International Cancer Genome Consortium - 20,000 high
coverage genomes in 5 years for research
• Many others…….
13. Molecular Basis of Disease
Consequences of mutations
p53 tumour suppressor
core domain - cancers of many types
Cu-Zn Superoxide
Dismutase - Autosomal dominant
Amyotrophic lateral sclerosis
14. Heart disease: finding people at risk
• By
, almost
0.5% of our population
is at high risk for
developing heart
disease.
• If they knew their risk
by
, they’d
have a chance to beat
it.
15. MRSA
• We can use DNA
sequencing to clearly
identify infectious bacteria
• Same technology can
sequence the hospital
environment
• Powerful information for
containment response
• “Immune systems for
hospitals”.
• Reference resources
provided by ELIXIR
16. Tracking food-borne pathogens
• 2011 outbreak of E-coli O104:H4
infection
•
responsible for more than 4000 cases
and 50 deaths
• Origin initially linked to cucumbers
• Collaborative genome sequencing
to identify pathogen and cause of
virulence.
• Origin traced to bean sprouts
17. Designing Novel Alzheimer’s Drugs
Discovery
Target
Discovery &
Validation
Drug
Discovery
Development
Drug
Validation
Clinical
Testing
ELIXIR will be involved at every stage – taking care of the data
18.
19. ELIXIR
ELIXIR and Agricultural Challenges
Janet Thornton
European Life Sciences Infrastructure for Biological Information
www.elixir-europe.org
20. Impact of genomics on Agriculture & Environment
1
Provision
of reference
genomes
2
Understanding the
genetics
responsible for
agronomic traits
Accelerated crop
improvement:
- quality
- yield
- disease resistance
- changing conditions
3
Future fuels
4
Ecosystem
genomics
New strategies
for pest and
disease control
Maximising the
efficiency of
biomass
processing
Biodiversity
management and
conservation
21. Developing Drought resistant varieties
• Drought resistance is a complex
trait, controlled by several genes.
• Identify genomic regions
associated with drought
tolerance in wheat – useful in
marker-assisted breeding.
• Re-introducing genes from wild
wheat relatives from the Middle
East into modern varieties.
23. Sequencing the tomato genome
• Identification of the parts of the
genome responsible for desirable
features and characteristics
responsible for evolutionary success.
• This understanding will lower costs and
accelerate efforts to improve global
tomato production.
• Lead to varieties better equipped to
combat pests, droughts and diseases.
25. Sustainable bioenergy: genomics and biofuels
development
• Genomics provides a better
understanding of how to harness
various renewable energy sources,
• Sequencing of potential biofuels:
miscanthus, poplar and willow
• Genetic engineering of enzymes
for optimising the development of
sustainable biofuels.
26.
27.
28. ELIXIR
ELIXIR and Data Challenges
Janet Thornton
European Life Sciences Infrastructure for Biological Information
www.elixir-europe.org
29. Future Scale of Genomic Data
1 Human Genome is 109 bases
Human genome for all UK citizens - 65m x 109 = 6x1016
SNPs for all UK citizens - 65m x 106 = 6x1013
1 petabyte = 1015
EBI currently has ~30 petabytes of storage
30. Sequencing every child born in the EU?
5 million
births per
year
3 petabytes
of raw data
every day
9
petabases
of DNA
every week
Storing only
variants: much
more feasible
34. Data Challenges
Format, Ontologies, Security, Links to clinical records, Data Flow
Infrastructure will be needed to deliver the benefit to the
patients and also to the academic research and commercial
communities will include:
•
•
•
Infrastructure re samples – collection of samples; delivery from hospital to sequencing
centre; delivery of data from sequencing centre to NHS database
Database to store the genomic data and deliver to users
Tools to annotate the data
• Generic annotation – by comparison to public reference databases
• Disease specific clinically actionable annotation
•
•
Tools to deliver the data to the clinicians and to integrate data with clinical data
Tools to provide download of specified data to academics and commercial entities
35. BioMedBridges
Ten new biomedical sciences research
infrastructures: stronger through common links
Computational ‘data and
service’ bridges between the
BMS RIs
Interoperability between data
and services in the biological,
medical, translational and
clinical domains
Link basic biological research
data with clinical research and
associated data
35
36. BioMedBridges
will deliver:
Data bridges
Creating links between available data that were not linked before
will hugely increase the potential for new discoveries
Interoperability bridges
standards, formats, ontologies... and how to make it linkable!
Social bridges
Connecting the biomedical research infrastructures
Image courtesy of MDOT's Photography