Case Study 1:
Genesis Genomics (Mitomics)
Mark A. Birch-Machin
Professor in Molecular Dermatology
Dermatological Sciences, Institute of Cellular Medicine
Newcastle University
UV Sensitive Mitochondrial Deletion
Every time
you go out in
the sun, you
add another
layer of
sunburnt DNA
A TOWER OF
DAMAGE
builds up in
our skin
Sunburnt DNA increases with sun exposure in human
skin
Occasionally (E) Vs Usually (E)
p=0.0001, 2=17.53, odds ratio of 40
% with Sunburnt DNA damage
90
80
70
60
50
40
30
20
10
0
Epidermis
Dermis
Epidermis
Dermis
Epidermis
Dermis
Rarely Sun-Exposed Occasionally Sun-exposed
Usually Sun-exposed
Krishnan, Harbottle and Birch-Machin: JID
2004
MtDNA damage and SunExposure
in Human Skin
UVR  mtDNA damage  No repair 
Accumulation of damage 
marker of Sun-damage in skin?
MtDNA damage is an excellent
indicator of sun-exposure in skin
We now have the technology which
can accurately detect this type of damage
in human skin and skin cancer patients
What about Sunburnt DNA in short term
sun-exposure (in young individuals)?
ITN Tonight with Trevor McDonald (2003):
Could we measure Sunburnt DNA following short sun exposure?
Skin biopsy before (buttock + arm) and after
(arm) one week holiday in Ibiza
Results: Sunburnt DNA was increased
directly in proportion to sun-exposure
Case Study: Genesis Genomics Inc
(Mitomics from 2010).
Canad
a
Mitochondrial DNA
biomarker discovery
UK
One of Canada’s Top 10 Life Science Companies
http://www.mitomicsinc.com/
Funding
Canada: Ontario government
UK: DTI and NorthStar POC
Products and Services
• Service (examples):
– Calibration of UV dosimeter materials
– Smart sunscreens (cosmetic
companies)
• Licensing: Skin physical (DermaDNA)
• Prostate Cancer test
DermaDNATM:The Use of Mitochondrial DNA as a
"Biosensor" for UVR Induced skin Damage and in
relation to the genetic determination of skin type:
Implications for Personalized Skin Care.
Prof Mark Birch-Machin
Chief Dermatology Science Officer, Genesis Genomics Inc.
Dermatological Sciences, University of Newcastle, UK
Introducing
DermaDNA & Genesis Genomics Inc.
VitalScience Corp. and Genesis Genomics Inc., are set to unveil the first
commercially available test for UV exposed skin damage.
dermaDNA™; the first personalized skin care system in the world providing new
genetic assessments and treatment regimes.
Dedicated to providing Dermatologists with new and highly effective tools for their
use in the diagnosis, treatment and monitoring of their patients’ skin.
Genesis Genomics Inc.:
• A biotechnology research company based in Thunder Bay, Canada
• Research facility at Newcastle University, UK
• Develops simple tests for the early detection of many types of cancer at the
Mitochondrial DNA level.
VitalScience Corporation® :
• Independent Canadian company rapidly expanding across the globe.
• Success is the result of constant innovation, rapid development and key
partnerships.
Introducing dermaDNA
dermaDNA a facial skin care system that consists of a DNA Skin Cell Test Kit
and Cosmeticeutical Treatments. This two step system is composed of:
STEP 1 – Test
• Assesses the level of Mitochondrial DNA (mtDNA)
damage caused by UVR from a skin sample.
Step 1:MtDNA damage increases with UV exposure
90
80
Occasionally (E) Vs Usually (E)
p=0.0001, 2=17.53, odds ratio of 40
% with DNA damage
70
60
50
40
30
20
10
0
Epidermis
Dermis
Rarely Sun-Exposed
Epidermis
Dermis
Epidermis
Dermis
Occasionally Sun-exposed Usually Sun-exposed
Krishnan, Harbottle and Birch-Machin: JID 2004
Introducing dermaDNA
dermaDNA a facial skin care system that consists of a DNA Skin Cell Test Kit
and Cosmeticeutical Treatments. This two step system is composed of:
STEP 1 – Test
• Assesses the level of Mitochondrial DNA (mtDNA)
damage caused by UVR from a skin sample.
• Identifies variants in the gene responsible for
pigmentation (genetic skin type).
A
B
C
D
Step 1: Control of pigmentation
alpha-MSH
Phaeomelanin
(red yellow)
MC1R
Tyrosine
cAMP
MC1R= Melanocortin 1 receptor
Dopaquino
ne
Eumelanin
(brown black)
Introducing dermaDNA
dermaDNA a facial skin care system that consists of a DNA Skin Cell Test Kit
and Cosmeticeutical Treatments. This two step system is composed of:
STEP 1 – Test
• Assesses the level of Mitochondrial DNA (mtDNA)
damage caused by UVR from a skin sample.
• Identifies variants in the gene responsible for
pigmentation which is a determinant of skin type.
•
Validated in peer reviewed
publications.
Step 1: The Science Behind dermaDNA Test
The science and technology behind the test is patent-pending and has
been published in peer-reviewed scientific journals and has received
acclaim from dermatology researchers worldwide.
•
(Birch-Machin et al., JID 1998) (Ray et al., JID 2000)
•
•
•
•
•
(Birch-Machin et al., CED 2000) (Birch-Machin et al., BJD 2002)
(Durham et al., BJC 2003) (Krishnan et al., JID 2003)
(Harbottle et al., JID 2004) (Krishnan et al., JID 2004)
(Birch-Machin, BJC 2005) (Krishnan and Birch-Machin, JID 2006)
(Birch-Machin, CED, 2006) (Harbottle & Birch-Machin, BJC, 2006),
•
•
•
•
(Birket & Birch-Machin, Aging Cell, August 2007)
World Congress of Dermatology, Argentina 2007
Foundation for Research in Derm Education 2008, January Maui.
31st Annual Hawaii Dermatology (SDEF), March 2008, Hawaii.
Diary of Sun-exposure in human skin
What is skinphysical®?
skinphysical® is a consumer test that measures the amount of DNA damage that has occurred
as a result of exposure to the sun’s harmful UV rays.
Gene•Screen™
 Gene•ScreenTM is a genotyping assay developed by GGI
to identify variants (or a spelling change in the 4-letter
genetic code) in the gene responsible for pigmentation
which is a determinant of both hair colour and skin type
 Variants in the gene have an associated risk with the
development of both types of skin cancer
Sunburnt DNA™
 The Sunburnt DNA™ test quantifies the level of DNA
damage caused by ultraviolet radiation (UVR)
 The test can assess damage at specific body sites which
are of concern to the consumer
 Skin sample collection can be done using either a swab or
a needle
Sun Lifestyle Questionnaire
Sun Lifestyle Report
 A simple questionnaire to assess the background and sun
lifestyle of an individual
 A report provided to each individual outlining their
genotype and DNA damage
 Level of DNA damage can be linked to sun care and DNA
care products
 Consent for sun protection and repair product referrals are
included
 Recommendations for regular DNA repair assessments
can be included
simple, high-throughput, cost-effective procedure.
Product Evolution
Original Version
‘The Punch Biopsy’
 Extremely
invasive using a
3-4 mm blade
 Obtains sample of
all skin layers
Modified Version
‘The Needle’
 Mildly invasive
using 1 to 3
insertions of a 2629 G needle
Marketed Version
‘The Swab’
 Non-invasive
using cotton swab
 Obtains sample of
epidermis layer
only
Introducing dermaDNA
dermaDNA a facial skin care system that consists of a DNA Skin Cell Test Kit
and Cosmeticeutical Treatments. This two step system is composed of:
STEP 1 – Test
• Assesses the level of Mitochondrial DNA (mtDNA)
damage caused by UVR from a skin sample.
• Identifies variants in the gene responsible for
pigmentation which is a determinant of skin type.
•
Validated in peer reviewed
publications.
STEP 2 – Cosmeceutical Treatments
Scientifically proven to:
• Reduce mtDNA skin damage
• Protect against future damage and signs of aging
Launched in North America 2007/8
(Not final packaging)
www.skinphysical.co.uk - Sunburnt DNA Test + Customised Lifestyle
Advice
Media Launch: ITN News, BBC Breakfast, The Times, Daily Mail; BBC 5 Live;
Newcastle Journal, Grazia
Product Evolution
Original Version
‘The Punch Biopsy’
 Extremely
invasive using a
3-4 mm blade
 Obtains sample of
all skin layers
Modified Version
‘The Needle’
 Mildly invasive
using 1 to 3
insertions of a 2629 G needle
Marketed Version
‘The Swab’
 Non-invasive
using cotton swab
 Obtains sample of
epidermis layer
only
“How a simple cotton bud test
can reveal the true reality of sun
damage in the skin” RI website
Every time
you go out in
the sun, you
add another
layer of
sunburnt DNA
A TOWER OF
DAMAGE
builds up in
our skin
Harbottle &
BirchMachin BJD
2011
Comparing Heel to Nose
Every time you
go out in the
sun, you add
another layer of
sunburnt DNA
A TOWER OF
DAMAGE builds
up in our skin
Testing Sunscreens
UV
UV
Control
UV
UV+Sunscreen
UV
UV/Sunscreen
Culture
cells
inwith
petri
dishes
Irradiate
cells
a UV
Collect
cells
from
each
petri
doseand
regime
dish
extract the DNA
Control
deletion
Perform PCR on DNA
samples to detect deletions
Sunscreens protection against sunburnt DNA
100.0
90.0
15x 5Min UVA
80.0
% Sunburnt DNA
70.0
60.0
50.0
40.0
30.0
20.0
10.0
0.0
Control
Vehicle
Sunscreen A
Sunscreen B
Case Study 2: Powerhouse
Biologics Ltd
Personalised nutrition to
maximise cell health
Mark A. Birch-Machin and Georg Lietz
Lycopene Pilot Study
• Red pigment found in tomatoes
and other red fruits & vegetables
• Pilot study: Could eating tomato
paste protect the skin from DNA
damage and skin redness?
• 20 women received tomato
paste or olive oil each day for 12
weeks
Results (Rizwan et al., Brit J Dermatol 2011, 164, 154-162)
Volunteers on the lycopene diet had increased skin protection,
as seen by a reduction in skin redness and less sunburnt DNA
damage and a decrease in the induction of matrix
metalloproteinase 1 (MMP1)
MMPs and Photoageing
MMPs
Degraded
collagen
Photoageing
Imperfect repair