48x36 Poster Template

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DIYgenomics realizing personalized medicine
through citizen science genomics clinical
trials Melanie Swan, William Reinhardt, Cindy
Chen 1.415.505.4426 www.DIYgenomics.org/DIYgen
omics_poster.ppt Palo Alto, CA USA
5. Telomere length anti-aging study
Background DIYgenomics goal and methodology
1. Dopamine modulation and memory filtering study
3. Vitamin B-9 and MTHFR variants study
DIYgenomics is a non-profit research organization
whose primary goal is to provide a model for
realizing preventive medicine by establishing
baseline markers of wellness and interventions
for conditions while they are in the 80 of their
lifecycle that is pre-clinical. The generalized
hypothesis is that one or more genetic
polymorphisms (e.g. mutations) may result in
out-of-bounds baseline levels of biophysical
markers (for example, undesirably high
homocysteine levels), which may be ameliorated
through personalized intervention. The
interventions that work best may differ by
individual. The high cost of healthcare and the
new availability of genomic sequencing data
suggests the imperative of developing innovative
models to supplement traditional health service
delivery. Crowd-sourced cohorts of citizen
scientists and health social networks could be
significant resources for testing multiple
hypotheses quickly and dynamically in various
populations.1 Citizen science genomics,
integrating personal genomic data with physical
biomarker data and intervention, is a model that
could be applied in large-scale preventive
medicine studies by both institutional
researchers and citizen science
groups. DIYgenomics has five studies currently
in operation regarding memory performance,
Retin-A skin treatment for acne and wrinkles,
vitamin B-9 and MTHFR variants, vitamin D
deficiency, and anti-aging remedy TA-65
telomerase activation therapy.
Summary Determine if genetic variants in the
dopamine pathway impact memory and prediction in
the first international citizen science
collaboration with University Hospitals Geneva,
Switzerland
Summary Explore genetics, homocysteine, vitamin
B deficiency, and personalized intervention
Requirements Homocysteine blood tests, vitamin
B supplements
Summary Determine efficacy of TA-65 telomerase
activation therapy as an anti-aging
remedy Requirements Telomere length measurement
tests and TA-65 therapy Participate
http//bit.ly/mAkLbo

• Participate http//bit.ly/mseecQ
• Details In the MTHFR gene (methylenetetrahydrofol
  ate reductase), 2 small variations in DNA (SNPs
  rs1801133/C677T rs1801131/A1298C) keep vitamin
  B-9 (or folic acid) from being metabolized into
  its active form (folate). Without this form of
  vitamin B, homocysteine may accumulate leading to
  a range of cardiovascular and diabetes-related
  symptoms. Up to 60 of people may have some form
  of MTHFR mutation.
• This study aims to
• Find people with MTHFR mutations - by collecting
  genotype data from volunteers who have used
  genetic testing services
• Try simple interventions - like special vitamin B
  supplements available over-the-counter
• See if they work - by asking participants to
  share results from blood tests performed at
  commercial labs
• Drug companies won't do this type of study --
  there's little money to be made in
  over-the-counter treatments. But we can. The
  tools to do this -- to look at genomic
  information, to measure treatment results, and to
  analyze the data -- are now cheap or free. All we
  need are concerned people who care enough to
  help. Want to answer this question? The results
  from the pilot phase of this study indicate that
  healthy individuals had higher-than-acceptable
  homocysteine levels and that personalized
  intervention can help.5
• Key SNPs reviewed rs1801133, rs1801131

Requirements Perform memory filtering exercise
and background survey (approx 40 min)
Participate http//bit.ly/memory-filtering-stud
y Details Our brains are able to adapt to the
unexpected using a built-in network that makes
predictions about the world and monitors the
results of those predictions. An area at the
front of the brain, called the orbitofrontal
cortex, plays a central role and studies have
shown that patients with damage to this area
confuse memories with reality and continue to
anticipate events that are no longer likely to
happen. This study seeks to determine if genetic
variants in the dopamine processing pathway
impact this process in normal, healthy
volunteers. This study is being conducted in
conjunction with the Center of Cognitive
Neurorehabilitation at the Geneva University
Hospital in Switzerland and is based on ongoing
research into the underlying mechanisms impacting
the processing of memories according to their
relation with ongoing reality.2,3 Key genes and
SNPs reviewed COMT (VAL158MET rs4680), DRD2
(rs1076560, rs2283265, rs7131056), SLC6A3
(rs40184)
Details As we age, our telomeres shrink by about
100 base pairs per year. Research work from Nobel
Prize winner Elizabeth Blackburn and former Geron
CSO Cal Harley has been used to develop a
potential remedy in the form of TA-65 telomerase
activation therapy.7 A few thousand individuals
are currently taking this therapy. This study
seeks to establish quantitative and qualitative
measures of the efficacy of TA-65 or astragalus
supplements, and whether personal genome profiles
make a difference. Do people with genetic
polymorphisms in their telomere genes like TERC
have shorter telomeres to start with and are they
therefore more likely to benefit from
therapies? Key SNPs reviewed TERC (rs10511887,
rs12696304, rs16847897, rs2293607, rs610160)
About DIYgenomics
Press coverage
DIYgenomics is a non-profit research
organization. Studies are operated using Genomera
(a commercial platform). For more information,
please contact Melanie Swan, Founder
DIYgenomics 1-650-681-9482 PO Box 61258 Palo
Alto CA 94306 USA m_at_melanieswan.com www.DIYgenomi
cs.org Twitter _at_DIYgenomics facebook.com/DIYgenom
ics
DIYgenomics personal genome information apps
2. Retin-A acne and wrinkles study
In addition to designing citizen science clinical
trials, DIYgenomics has created a variety of web
and mobile personal genome information apps. The
apps provide a comprehensive summary of the genes
and SNPs associated with conditions from
contemporary research, and offer a comparison of
personal genome services 23andMe, deCODEme, and
Navigenics. The apps review health risk for the
top 20 health conditions, metabolism for 200
drugs, and natural capability for 15 athletic
performance categories. The apps are free and the
software is open-source. 23andMe data files may
be loaded privately for personalized profile
review.
Summary Investigate if skin irritation from
widely used Retin-A (tretinoin) products can be
predicted ahead of time from personal genome
profiles Requirements Complete online survey
regarding Retin-A skin care product experience
(10 min)
4. Vitamin D deficiency study
Summary Investigate genetics, vitamin D
deficiency, and supplementation Requirements
Vitamin D blood tests, vitamin D supplements
Participate http//bit.ly/retin-a-study
Details Tretinoin or Retinoin, or Retin-A, is
an acid form of Vitamin A. It is used to treat
acne and wrinkles, and is available by
prescription or over-the-counter. Retin-A peels
or thins the outer layer of the epidermis, and
thickens the layers below by stimulating collagen
production. Although many favorable final
outcomes are reported, when first using a Retin-A
product, some people experience a period of
irritation with red flaky peeling skin.4 This
study investigates whether underlying genetic
profiles make a difference and might predict this
ahead of time. This study is being conducted as
part of a larger translational reverse-aging
study and is intended for presentation at the
annual LVMH Scientific Recherche Symposium in
London. Key SNPs reviewed rs1800629,
rs3793784, rs6661961, rs6700998, rs7538876,
rs7927894, rs801114
Participate http//bit.ly/kb5R1l Details
Investigate the prevalence of vitamin D
deficiency and its link to genomic profiles, the
possibility of improving vitamin D levels through
supplementation, and individualized intervention.
The study protocol is to start on a daily dose
of vitamin D of 1,000 IU per 25 pounds of body
weight (e.g. a person weighing 150 pounds would
take 6,000 IU per day), and test after eight
weeks. If blood levels are still low, try 1,000
IU increases in vitamin D dosage to produce a 10
ng/ml increase. (Recommendations per the Vitamin
D Council (Dr. John Cannell)).6 Key SNPs
reviewed rs1042945, rs11168263, rs11540149,
rs11574132, rs2853563, rs9729
SIGN UP FOR THESE STUDIES NOW! http//www.DIYgenom
ics.org
References
1Swan M. Emerging patient-driven health care
models an examination of health social networks,
consumer personalized medicine and quantified
self-tracking. Int J Environ Res Public Health.
2009 Feb6(2)492-525. 2Anonymous. Snakes and
Spiders Revealing the Wiring That Allows Us to
Adapt to the Unexpected. ScienceDaily. January
31, 2011. Available at http//www.sciencedaily.co
m/releases/2011/01/110131092332.htm Accessed May
17,2011. 3Schnider A, Guggisberg A, Nahum L, et
al. Dopaminergic modulation of rapid reality
adaptation in thinking. Neuroscience. 2010 May
19167(3)583-7. 4Wadyka S. The Thing About
Retin-A It Works. New York Times. November 30,
3006. Available at http//www.nytimes.com/2006/11
/30/fashion/30skin.html. Accessed May 17, 2011.
5Swan M, Hathaway K, Hogg C, et al. Citizen
science genomics as a model for crowdsourced
preventive medicine research. J Participat Med.
2010 Dec 23 2e20. 6Cannell J. Am I Vitamin D
deficient? The Vitamin D Council. October 1,
2008. Available at http//www.vitamindcouncil.org
/health/deficiency/am-i-vitamin-d-deficient.shtml.
Accessed May 17, 2011. 7Harley CB, Liu W, Blasco
M, et al. A natural product telomerase activator
as part of a health maintenance program.
Rejuvenation Res. 2011 Feb14(1)45-56.