Case Study 1: Case Study 1: Genesis Genomics (Mitomics)Genesis Genomics (Mitomics)

Mark A. Birch-Machin Mark A. Birch-Machin

Professor in Molecular DermatologyDermatological 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

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Rarely Sun-Exposed Occasionally Sun-exposedUsually Sun-exposed

Sunburnt DNA increases with sun exposure in human Sunburnt DNA increases with sun exposure in human skin skin

Krishnan, Harbottle and Birch-Machin: JID 2004

Occasionally (E) Vs Usually (E)p=0.0001, 2=17.53, odds ratio of 40

UVR UVR mtDNA damage mtDNA damage No repair No repair Accumulation of damage Accumulation of damage

marker of Sun-damage in skin?marker of Sun-damage in skin?

MtDNA damage and Sun-MtDNA damage and Sun-ExposureExposure

in Human Skin in Human Skin

We now have the technology which We now have the technology which

can accurately detect this type of damagecan accurately detect this type of damage

in human skin and skin cancer patientsin human skin and skin cancer patients

MtDNA damage is an excellent MtDNA damage is an excellent indicator of sun-exposure in skinindicator of sun-exposure in skin

What about Sunburnt DNA in short term sun-exposure (in young individuals)?

ITN Tonight with Trevor McDonald (2003): ITN Tonight with Trevor McDonald (2003):

Could we measure Sunburnt DNA following short sun exposure?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 Results: Sunburnt DNA was increased directly in proportion to sun-exposuredirectly in proportion to sun-exposure

Case Study: Genesis Genomics Inc

(Mitomics from 2010).

One of Canada’s Top 10 Life Science Companies http://www.mitomicsinc.com/

Mitochondrial DNA biomarker discovery

CanadCanadaa

UKUK

FundingFunding

Canada: Ontario government

UK: DTI and NorthStar POC

Products and Services 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 CareImplications for Personalized Skin Care.

Prof Mark Birch-MachinProf Mark Birch-Machin

Chief Dermatology Science Officer, Genesis Genomics Inc.Dermatological Sciences, University of Newcastle, UK

Introducing

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.

DermaDNA & Genesis Genomics Inc.

STEP 1 – Test• Assesses the level of Mitochondrial DNA (mtDNA)

damage caused by UVR from a skin sample.

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:MtDNA damage increases with UV exposure

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Epidermis Dermis Epidermis Dermis Epidermis Dermis

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DN

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Rarely Sun-Exposed Occasionally Sun-exposed Usually Sun-exposed

Occasionally (E) Vs Usually (E)p=0.0001, 2=17.53, odds ratio of 40

Krishnan, Harbottle and Birch-Machin: JID 2004

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).

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:

A C

B D

Step 1: Control of pigmentation

MC1R

cAMP

Dopaquinone

Eumelanin (brown black)

Phaeomelanin (red yellow)

alpha-MSH

Tyrosine

MC1R= Melanocortin 1 receptor

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.

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:

The science and technology behind the test is patent-pending and has The science and technology behind the test is patent-pending and has been published in peer-reviewed scientific journals and has received been published in peer-reviewed scientific journals and has received

acclaim from dermatology researchers worldwide.acclaim from dermatology researchers worldwide.

Step 1: The Science Behind dermaDNA Test

• (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

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

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

Sunburnt DNA™ 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

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

Gene•Screen™

A simple questionnaire to assess the background and sun lifestyle of an individual

Consent for sun protection and repair product referrals are included

A simple questionnaire to assess the background and sun lifestyle of an individual

Consent for sun protection and repair product referrals are included

Sun Lifestyle Questionnaire 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 Recommendations for regular DNA repair assessments

can be included

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

Recommendations for regular DNA repair assessments can be included

Sun Lifestyle Report

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.

simple, high-throughput, cost-effective procedure.

Product Evolution

Modified Version‘The Needle’

Mildly invasive using 1 to 3 insertions of a 26-29 G needle

Marketed Version‘The Swab’

Non-invasive using cotton swab

Obtains sample of epidermis layer only

Original Version‘The Punch Biopsy’ Extremely

invasive using a 3-4 mm blade

Obtains sample of all skin layers

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

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:

Launched in North America 2007/8

(Not final packaging)

Media Launch: ITN News, BBC Breakfast, The Times, Daily Mail; BBC 5 Live; Newcastle Journal, Grazia

www.skinphysical.co.uk - www.skinphysical.co.uk - Sunburnt DNA Test + Customised Lifestyle Sunburnt DNA Test + Customised Lifestyle AdviceAdvice

Product Evolution

Modified Version‘The Needle’

Mildly invasive using 1 to 3 insertions of a 26-29 G needle

Marketed Version‘The Swab’

Non-invasive using cotton swab

Obtains sample of epidermis layer only

Original Version‘The Punch Biopsy’ Extremely

invasive using a 3-4 mm blade

Obtains sample of all skin layers

““How a simple cotton bud test How a simple cotton bud test can reveal the true reality of suncan reveal the true reality of sun

damage in the skin” damage in the skin” RI websiteRI 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 & Birch-Machin 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

Culture cells in petri dishes

UV UV

Control UV UV+Sunscreen

Irradiate cells with a UV dose regimeCollect cells from each petri dish and extract the DNA

Control UV UV/Sunscreen

Perform PCR on DNA samples to detect deletions

deletion

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Sunscreens protection against sunburnt DNA

Case Study 2: Powerhouse Case Study 2: Powerhouse Biologics LtdBiologics Ltd

Personalised nutrition to Personalised nutrition to maximise cell healthmaximise cell health

Mark A. Birch-Machin and Georg LietzMark A. Birch-Machin and Georg Lietz

Lycopene Pilot StudyLycopene Pilot Study

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)

• 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

MMPs and PhotoageingMMPs and Photoageing

Photoageing

MMPs Degradedcollagen

Imperfect repair