STSE Genetics Unit

Genetics Research in Newfoundland and Labrador

Introduction

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 Research 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

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.

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 company

Blood SamplesProcess 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 genotyping

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 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 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

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

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 makeup.

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 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 Novel Gene DiscoveryValidation StudiesLaboratory 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

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

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 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

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