STSE Genetics Unit


Oct 22, 2013 (4 years and 7 months ago)


STSE Genetics Unit

Genetics Research in
Newfoundland and Labrador


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

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

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

Further studies may include inflammatory
arthritis, Respiratory, Infectious and
dermatological diseases

Genes and Disease

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

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.

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

DNA Extraction

DNA Extracted using a kit from a supply

Blood Samples

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

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

Use of Genetic Markers to accomplish this

Gene Markers can be used to indicate the
presence of a particular disease

Methods of Genotyping

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

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

Technology incorporates PCR, uses probes to search
for Genetic Markers, also uses fluorescent chemical
tags to detect the presence of genetic markers

MassArray Genotyping

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

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

MassARRAY also incorporates PCR into its technology in
addition to the use of primers. Sequenom Inc. developed
this technology in partnership with Newfound Genomics


All studies are approved by Human Investigation
Committee (HIC) at the Faculty of Medicine

Donor Volunteers give full informed consent

This 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

Genetic Information obtained is pooled
with all information from all other
volunteers with a similar medical condition

Main Ethical Issue is that of Privacy

Employers or Insurance Companies are not given
access to DNA Information.

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

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

Novel Gene Discovery

Validation Studies

Laboratory Services

Important that Newfound Genomics does
not work in isolation from other Genetics
Research Companies and Academic

Partnership with MUN to build research
capacity and joint research initiatives

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

Predicted that drugs developed from
genomics research will generate 30%
50% of global drug revenues by 2020

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

At Present Newfound Genomics employs about
10 persons

Intention of company is to advance the
academic, social, and economic benefits for the

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.


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