Más contenido relacionado La actualidad más candente (20) 3. SNP-disease associations
23andMe
founded
2.5 years ago,
fewer than
Today, over
100 associations
2000 associations
Copyright © 2010 23andMe, Inc. All rights reserved.
source: http://www.genome.gov/GWAStudies
4. What is 23andMe?
• A service to provide consumers access
to their genetic data (+ features and tools
to make that data useful and interesting)
• A platform for genetic research
5. What is 23andMe?
Order a kit via
CLIA lab extracts DNA from your Log in and explore
our web site.
sample and analyzes it at about your genetic data.
600,000 locations.
Copyright © 2010 23andMe, Inc. All rights reserved.
6. What is 23andMe?
$399-
Order a kit via
The accuracy of
Lab extracts DNA from your > 35,000
Log in and explore
our web site.
sample and analyzes it at about your genetic data.
$499
the600,000 locations.
chip is rated individuals in
at >99.9%
the database
Copyright © 2010 23andMe, Inc. All rights reserved.
7. Monica
Jewish?
African-American?
Hispanic?
Native American?
Macular
Degeneration?
Sickle Cell?
Plavix?
Breast Cancer?
Copyright © 2010 23andMe, Inc. All rights reserved.
8. European Descent
Asian & European Descent
Copyright © 2010 23andMe, Inc. All rights reserved.
11. Health information
140 reports on health and traits
• 61 are of high confidence (and
drug
growing)
response
• 24 carrier status (recessive disease)
disease
reports
risk
• 8 drug response reports
carrier
• 12 disease risk reports
status
• 10 traits
Copyright © 2010 23andMe, Inc. All rights reserved.
13. Research 2.0
Copyright © 2010 23andMe, Inc. All rights reserved.
14. Survey infrastructure
• 35+ surveys online, from
exercise and lifestyle to
Parkinson’s disease
• A dedicated survey team
• Interactive, web-based
tools allow us to develop
ongoing relationships
• We can recontact easily
Copyright © 2010 23andMe, Inc. All rights reserved.
15. The 23andMe Database
Over 35,000 Genomes
70% Users Have Taken at Least 1 Survey
In less than 2 years…
One of the largest genetic databases in the world
Copyright © 2010 23andMe, Inc. All rights reserved.
16. 23andWe
Web-based, participant-driven studies yield novel genetic
associations for common traits. N. Eriksson1, J. M. Macpherson1, J.
Tung1, L. Hon1, B. Naughton1, S. Saxonov1, L. Avey1, A. Wojcicki1, I. Pe'er2, J.
Mountain1,3 1) 23andMe, Inc., Mountain View, CA; 2) Department of
Computer Science, Columbia University, New York, NY; 3) Department of
Anthropology, Stanford University, Stanford, CA.
Results on 22 Common Traits
Copyright © 2010 23andMe, Inc. All rights reserved.
18. The Parkinson’s Project
January 09:
Received Funding
February:
Teamed up with MJ Fox Foundation &
Parkinson’s Institute
March:
Launched Program
April:
First 2,000 people
November:
Preliminary results yielding a number of
novel genes associated with Parkinson’s
19. The Parkinson’s Project: April 2010
World's largest database of individuals with the LRRK2
genotype
~4000 participants
Over 75% have completed the Parkinson’s surveys
Copyright © 2010 23andMe, Inc. All rights reserved.
20. GBA Mutations & Parkinson’s
Copyright © 2010 23andMe, Inc. All rights reserved.
21. GBA & Parkinson’s
• Sidransky et al (NEJM 2009)
• 16 centers
• 5691 patients, 4898 controls
• COST: +5M
Odds ratio for any GBA mutation (patients vs. controls): 5.34
• Neumann et al (Brain 2009)
3+ YRS
TIME:
• Clinically and pathologically diagnosed cases from UK
• 790 patients and 257 controls (14 GBA mutations)
• Odds ratio: 3.7
Copyright © 2010 23andMe, Inc. All rights reserved.
22. Community
“As for this site, it makes me feel like I am not alone,
there is someone out there I can talk to, even if it is
just to compare symptoms. Even though I have
become actively involved in 2 PD groups, these
conversions really help.
Thank you to everyone who takes the time to read
and reply.”
Copyright © 2010 23andMe, Inc. All rights reserved.
24. Paternal
Maternal Lineage
Lineage
Copyright © 2010 23andMe, Inc. All rights reserved.
26. Perspec'ves
for
building
a
Community
where
disease
data
and
models
are
shared
Lessons
Learned:
1-‐
2-‐
Challenges
Ahead:
1-‐
2-‐
