STSE Genetics Unit
Genetics Research in
Newfoundland and Labrador
Introduction
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DNA can be used to assist in Medical Research
Many Newfoundlanders and Labradorians have
been giving consent to a local company to do
exactly that
Newfound Genomics
Genomics is the study of how genes apply to
health research
Founder Populations
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Newfoundland’s current inhabitants arose from
20 000 – 30 000 immigrants from Ireland,
Scotland, and Southwest England in the late
1600’s. These were the Founding Population
Population grew from expansion as opposed to
immigration, this limited genetic Diversity
Certain traits became more pronounced while
other traits were eradicated.
Explains why some diseases are much higher
while others are rare or even non existent
Newfound Genomics and their
Research
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Company is studying certain diseases such as
obesity, Type 2 Diabetes, Inflammatory Bowel
Disease, and Osteoarthritis
Research includes clinical, environmental and
genetic factors of these diseases
Also examining relationships between different
diseases
Further studies may include inflammatory
arthritis, Respiratory, Infectious and
dermatological diseases
Genes and Disease
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DNA is used in our cells to make proteins
If DNA Altered then the proteins that they produce will be
altered as well and we become more susceptible to
disease.
Some of these variations in the genetic code are referred
to as Single Nucleotide Polymorphisms (SNP’s)
In a SNP a nucleotide substitution has taken place in the
genome. Other variants could include insertions or
deletions to also generate a SNP.
Some SNP’s have been already identified
as associated with some diseases.
 Affymetrix and MassARRAY genotyping
systems are technologies that allow for
identification of SNP’s
 Other SNP’s have no significant impact on
health or may have yet to be connected to
a Disease.
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Better understanding of the sequences of the genes can
lead to a better understanding of the physiological
effects of the variations
May lead to the development of drugs that may restore
the normal functioning of the affected protein
More Revolutionary way of treating disease. Instead of
treating the symptoms of a Disease Scientists are
treating the cause in regard to the genetic variation.
Determining the precise genetic cause and the affected
protein will likely greater enable scientists to treat the
cause of a disease as opposed to the symptoms.
Laboratory Technology
Scientists are obtaining DNA samples and
supporting medical information from
patient donors.
 DNA Samples are taken from buccal cells
(cheek) or blood
 DNA is extracted from the cells
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DNA Extraction
DNA Extracted using a kit from a supply
company
 Blood Samples
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 Process
begins with lysing the RBC and
collecting the WBC. A solution is then used to
break down the lipid membranes of the cells
and the nuclei to release DNA
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DNA Extraction (cont)
 Another
Solution is used to remove the
protein. DNA Precipitated in Alcohol. After
Drying the DNA is dissolved so as to protect it
from shearing.
 After DNA Extraction has taken place,
freezers used to store DNA at -86 degrees
Celsius for further study
DNA Genotyping
DNA Samples used to carry out
genotyping
 Use of Genetic Markers to accomplish this
 Gene Markers can be used to indicate the
presence of a particular disease
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Methods of Genotyping
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Basic Molecular Genoytping
 Involves
a PCR to amplify DNA.
 Gel Electrophoresis is used to determine if the
variant is present. 2% Agarose Gel is used
with Ethidium Bromide used to stain. Under
UV light the DNA is illuminated
 More time consuming method of Genotyping
and tends to be used with small projects
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Affymetrix Genotyping
 Performs a General Scan of the Genome
 Contains a gene chip that has the capability
to scan
for the SNP’s
 At present Newfound Genomics has a chip that can
scan for 1500 SNP’s, chip presently being developed
that can scan for 10 000 SNP’s
 Technology can also be used in Gene Expression
Studies. Scientists are examining particular genes
that may be turned on/off during the stages of a
disease.
 Technology incorporates PCR, uses probes to search
for Genetic Markers, also uses fluorescent chemical
tags to detect the presence of genetic markers
MassArray Genotyping
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More Specific than the Affymetrix and can compare a
greater number of parameters for experimental work
Will analyze genetic samples for a particular SNP or a
number of SNP’s
Capable of examining from either the entire genome,
several areas of the genome, or one specific area of the
genome
It can examine the genetic information for one individual ,
or many individuals for one or many SNP’s
Useful for making a connection between the presence of
an SNP and a disease. It can also examine the genome
for the presence of SNP’s that are known to be related to
disease
MassARRAY also incorporates PCR into its technology in
addition to the use of primers. Sequenom Inc. developed
this technology in partnership with Newfound Genomics
Ethics
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All studies are approved by Human Investigation
Committee (HIC) at the Faculty of Medicine
(MUN)
Donor Volunteers give full informed consent
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consent allows researchers to use the donor
volunteers’ DNA for similar studies later
 All participants must be volunteers as it is considered
unethical to purchase bodily fluids in this country
Newfound Genomics does not provide
individual feedback to participating
volunteers regarding their specific genetic
makeup.
 Genetic Information obtained is pooled
with all information from all other
volunteers with a similar medical condition
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Main Ethical Issue is that of Privacy
 Employers
or Insurance Companies are not given
access to DNA Information.
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If employers had information that indicated the development
of a genetic disease they might make an unfavorable
decision regarding future or present employment
Insurance Companies might set rates based on the
information
Other companies may use the information gathered to further
their own business interests
Business Community
Newfound Genomics must act as an
instrument of science but also operate in
the business world
 They have to be properly financed. They
are focusing on 3 lines of business
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Novel Gene Discovery
 Validation Studies
 Laboratory Services
Important that Newfound Genomics does
not work in isolation from other Genetics
Research Companies and Academic
Institutions.
 Partnership with MUN to build research
capacity and joint research initiatives
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Once Genes are discovered that are
responsible for certain diseases they will
patent the use of this information for the
development of drugs and diagnostic
applications.
 Predicted that drugs developed from
genomics research will generate 30% 50% of global drug revenues by 2020
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Genetics Companies are cautious regarding the
ownership of Genetic Information. If you are
patenting DNA, is it the property of the individual
who volunteered? Do companies have the right
to patent what is the property of the Donor? If it
is patented should a royalty be paid to the
volunteer? If this arrangement were in place it
would be difficult for companies to exist for
financial reasons.
Questions about the ethics of selling ones DNA
for Research or for companies to buy it.
Careers in Biotechnology
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At Present Newfound Genomics employs about
10 persons
Intention of company is to advance the
academic, social, and economic benefits for the
province.
Expected that genetics research will be a fast
growing industry due to the unique genetic
makeup of the Province and therefore offer
employment opportunities as it grows.
Conclusion
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Newfound Genomics is an established and well
recognized biotechnology research company with a
number of research projects underway.
Too early for major results yet any findings are kept
within the domain of the company.
Company will not release any findings until it is published
and undergone a peer review.
Information is considered “intellectual property” and it
must remain private so that Newfound Genomics can
reap the academic and financial benefits of their work