1. Genetics Research in Newfoundland and Labrador
STSE Genetics Unit
Genetics Research in Newfoundland and Labrador

2. 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

3. Founder Populations
Newfoundland’s current inhabitants arose from – 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

4. 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

5. 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.

6. 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.

7. 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.

8. 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

9. DNA Extraction DNA Extracted using a kit from a supply company
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

10. 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

11. 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

12. 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

13. 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 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

14. 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

15. 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

16. 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

17. 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

18. 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

19. 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

20. 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

21. 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.

22. 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.

23. 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