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Please contact us at the following email adress : education@genomequebec.com
Careers in Genomics
Working in genomics
àGenomics offers a range of career opportunities that require different levels of education.
Biomedical Laboratory Technician*
Required level of education: College
Biomedical laboratory technicians conduct control tests on product samples based on specifications, protocols and standard operating procedures. They provide technical support to various departments: analytical, control or bio-analytical. Technicians use a variety of laboratory techniques to carry out chemical, biochemical or genetic tests.
Examples of typical duties:
- Conducting physical, chemical, biological, biochemical or microbiological testing on samples of raw materials or finished products.
- Performing analytical problem solving.
- Producing documents on the results of sample testing.
Biochemist
Required level of education: University
Biochemists study and analyze chemical reactions and biological processes that occur at the molecular level of living organisms in order to enhance scientific knowledge. They also seek out real-world applications for research in areas such as medicine, pharmaceuticals, genetics, agriculture, industry and even biotechnology.
Examples of typical duties:
- Studying the chemical processes involved in the various functions of organisms, such as digestion, energy conversion in living matter, growth and aging.
- Isolating and characterizing enzymes, hormones or genes and identifying their impact on the human body.
- Using genetic engineering techniques.
- Developing tests and new drugs.
- Producing reports and recommendations on research results.
Biologist
Required level of education: University
Biologists study living beings. They strive to understand how cells work. They focus on areas such as DNA replication and animal or plant cells in order to discover new therapeutic substances. They also study the chemical reactions in biological entities. They are fascinated by the interactions between active substances and living organisms. They are also interested in microorganisms, such as viruses, fungi and bacteria.
Examples of typical duties:
- Studying manifestations of life in living organisms.
- Conducting experiments on the growth, heredity and reproduction of plants and animals.
- Studying the repercussions of human activities on the environment.
- Studying the relationships among individuals (plants and animals) and their environment.
Microbiologist
Required level of education: University
Microbiologists study the structure, functions, ecology, biotechnology and genetics of microorganisms (viruses, bacteria, yeasts, fungi, algae) by conducting experiments and research to enhance scientific knowledge and develop practical applications for society and industry.
Examples of typical duties:
- Taking samples from living tissue.
- Isolating, identifying and harvesting specimens in the lab.
- Studying the action of microorganisms on living tissue (infectious diseases) and examining how they propagate as infectious agents.
- Studying microorganisms that decompose organic matter and fertilize soil.
- Controlling the safety of food and water.
- Controlling the quality of pharmaceuticals, drugs, cosmetics, pesticides, etc.
Many other professions require the use of genomics
College level:
- Analytical chemistry technician
- Chemical process technician
- Inspector
- Crime scene technician
University level:
- Biophysicist
- Chemist
- Coroner
- Biotechnology engineer
To learn more about the various careers related to genomics, talk to your school guidance counsellor or consult the programs of study offered by the schools in your area.
*Source : www.reperes.qc.ca (French only)
DNA
DNA and RNA
DNA day
DNA modification
Mutations: Driving biodiversity
Mutations are permanent changes to one or more nitrogenous bases in a DNA sequence. These genetic changes may be harmful or beneficial or may have no consequences for the organism.
Mutations in the DNA sequence always occur randomly. However, beneficial mutations that give the organism a better chance of survival are more likely to be passed on to the next generation. This is how species evolve and adapt to changes in their environment.
Mutations affecting a single nitrogenous base are very common. They’re called point mutations and they come in three categories:
| Point mutation | This common type of change involves a single pair of nitrogenous bases |
| Substitution | One nitrogenous base is replaced with another |
| Insertion | An additional nitrogen base is inserted into the DNA sequence |
| Deletion | A base is deleted from the DNA sequence |
- Substitutions can lead to a change in amino acid in the encoded protein.
- Insertions and deletions create frameshifts by changing how codons are read, which disrupts the amino acid sequence and often produces a non-functional protein.
Mutations are also described according to the effect they produce.
| Silent mutations | These mutations cause no change in the final protein, as the amino acid in question can be encoded by different codons. |
| Nonsense mutation | These mutations create a premature stop codon. The resulting proteins are incomplete and generally non-functional. |
| Missense mutations | These mutations create a different amino acid in the final protein. |
| Other mutation types | These mutation types involve more than one pair of nitrogenous bases |
| Tandem repeat mutations | These mutations increase or decrease the number of repeats of a specific sequence of nitrogenous bases. |
| Chromosomal rearrangements | These changes in the structure of chromosomes can disrupt normal gene function by putting genes under the control of incorrect regulators or changing their expression. |
- Breakdown in natural DNA repair mechanisms.
- Exposure to mutagens such as toxic chemicals (e.g., in cigarettes), viruses and UV radiation from the sun.
- Errors introduced during the DNA replication or genetic recombination that occurs during sex cell formation.
Have you ever wondered why our hair turns gray, our skin develops wrinkles, or our bodies become more vulnerable to diseases as we get older?
Many people think aging only happens on the outside. But some of the biggest changes occur deep inside our cells, where our DNA is stored. DNA carries the genetic code, or instructions that make up important proteins that every cell needs to function, whether it is a skin cell, a muscle cell, or a neuron in the brain. Over time, however, these genetic instructions can become damaged, making it harder for cells to maintain normal function.
The Sources of DNA Damage
Although our DNA is protected inside the nucleus of a cell, it is constantly under stress. Every day, our DNA faces threats from environmental factors like ultraviolet light, pollution, and toxic chemicals. Moreover, the danger also comes from within. Normal metabolic processes involved in our daily energy production, such as cellular respiration, can generate unstable molecules, called reactive oxygen species (ROS) as byproducts. When these build up, they create oxidative stress that can harm DNA, proteins, and other components of the cell.
DNA Damage vs. DNA Repair
Fortunately, our cells have evolved highly efficient DNA repair systems. These systems act like proofreaders, constantly searching for damage and fixing mistakes before they become a problem. But like any repair crew, they are not perfect. Occasionally, some damage escapes repair or is repaired incorrectly, causing permanent changes in the DNA sequence known as mutations. As cells grow older, DNA damage gradually accumulates and repair systems become less efficient. As a result, mutations can become more frequent over time. While many mutations are harmless, some can disrupt important cellular functions and contribute to several diseases, such as cancer and heart disease.
Telomeres: The Replicative Countdown Clock
DNA is organized into chromosomes and at the ends of these chromosomes are regions called telomeres. They act like protective caps that prevent chromosomes from deteriorating or fusing together.
However, each time a cell divides, telomeres become slightly shorter because normal DNA replication cannot fully copy the very ends of chromosomes. This is what happens as we age and our cells continue to divide where the telomeres gradually lose DNA sequences. This makes our chromosomes more fragile and vulnerable to damage. When telomeres become too short, cells often enter a state called senescence, where they stop dividing. These cells are called “zombies” because they remain alive but no longer function properly.
What Happens to these “Zombie Cells”?
Research shows that these zombie cells remain metabolically active in the body and secrete inflammatory molecules that can degrade nearby cells and gradually worsen tissue function.
In recent years, scientists have identified these cells as a major driver of age-related decline. In mouse studies, drugs known as senolytics have been used to selectively remove senescent cells, improving muscle function, vascular health, and even some aspects of brain aging in experimental models.
DNA Aging in the Brain
The impact of DNA damage is especially important in our brain. Neurons stop dividing shortly after birth and must last an entire human lifetime.
Because neurons cannot be replaced, they are highly sensitive to the accumulation of DNA damage. Over decades, unrepaired DNA damage can build up and weaken the neuron’s ability to maintain its structure, communicate effectively and perform essential cognitive functions such as memory and thinking.
This is especially relevant in neurodegenerative diseases like Alzheimer’s and Parkinson’s, where defective DNA repair systems and increased genomic instability are thought to contribute to neuronal dysfunction and loss.
Can We Slow Aging to Improve Overall Health?
One of the major goals of modern biology is to understand whether aging can be slowed or partially reversed to improve health and reduce disease risk. Scientists are studying how cells repair DNA, how telomeres protect chromosomes, and why some individuals remain healthy well into advanced age.
They are also looking beyond humans and examining various long-lived species, such as Greenland sharks and bowhead whales, that show unusual resistance to aging-related decline.
In recent groundbreaking experiments, scientists have used a set of proteins known as Yamanaka factors to partially reprogram aged cells. These factors act as the cell’s “reset button” to restore more youthful patterns of gene activity without changing the underlying DNA sequence. In animal models, this process has been shown to reverse some signs of aging and has improved functions such as vision and muscle strength.
This research reached an important milestone in January 2026 when the first human clinical trial of cell rejuvenation therapy was approved. The experimental treatment, called ER-100, uses the same Yamanaka factors to help restore the function of damaged retinal cells in patients with certain eye diseases. The trial is mainly testing safety, but if successful, patients could regain some of the vision that they have lost.
As the world population is aging, a greater number of people are at a risk of developing various age-onset diseases. As a result, research in such areas is fundamental to understanding how biological “wear and tear” can be managed more effectively.
By studying DNA damage, repair systems, and cellular aging, researchers are looking into newer strategies of developing the next generation of treatments that can tackle multiple chronic diseases simultaneously to improve long-term health and quality of life.
Maisha Maliha Promi
Ph.D. Researcher
Lab of Jeremy Van Raamsdonk
Research Institute of the McGill University Health Centre (RI-MUHC)
Cancer
Cancer is a disease characterized by the uncontrolled growth of abnormal cells in the body. The genetic mutations behind cancer change the mechanisms that control the cell cycle and apoptosis (programmed cell death) and allow cells to grow out of control and never die. These cells constantly divide and form tumours, which can then invade and harm the body’s tissues.
Understanding mutation mechanisms is therefore a vital part of cancer research. Identifying the specific types of mutations in cancer cells and understanding their causes lets researchers develop targeted methods to treat different types of cancer.
The study of genetic mutations has important implications for many other fields, such as evolution, developmental biology and research into hereditary diseases.
Mutation and evolution
Mutations are important from an evolutionary standpoint because they give rise to genetic diversity. Every mutation creates a new, unique version of a gene. If a mutation occurs in a sex cell, it can be passed on to the organism’s offspring.
When beneficial mutations give an organism an advantage in its specific environment, the organism is more likely to survive and reproduce. The frequency of a beneficial mutation that increases in a population over multiple generations is known as natural selection, a key concept in Charles Darwin’s theory of evolution.
Natural selection also tends to weed out mutations that hinder the survival of an organism, as individuals carrying these mutations will be less likely to reproduce and pass them on to their children.
Generation length is an also important factor in an organism’s ability to adapt to a changing environment. Organisms with shorter life cycles can potentially evolve faster, as they have more opportunities to generate offspring that carry beneficial mutations.
Evolution is therefore driven by the tension between mutations, which create genetic diversity, and natural selection, which acts as a “filter” that promotes beneficial mutations and hinders non-beneficial ones. This ongoing process of mutation and natural selection is how populations adapt, how they evolve over the long term, and how new species emerge.
Biotechnology
What is biotechnology?
Biotechnology is the study of living organisms to develop technologies that are useful to society. There are applications for biotechnology in many fields, such as medicine, agriculture, engineering and the environment.
Transgenic organisms are created through genetic engineering, a technique that allows scientists to insert the genes of one species into the genome of another to modify certain traits. A transgenic organism therefore carries a gene from another species in its genome. For example, agricultural crops that require fewer pesticides can be engineered using a gene for resistance to certain pathogens.
CRISPR-Cas9 is used as “molecular scissors” to add, remove or change target genes. Scientists adapted this gene-editing technique from an immune defence mechanism in bacteria and archaea as a way to cut DNA using Cas9 proteins. Guide RNA sequences accompany and direct the Cas9 proteins to specific genes. Once CRISPR-Cas9 binds to its target, it cuts the DNA, which triggers the cell’s natural repair mechanisms, which modify or replace the existing gene.
Some body tissues, such as those in the spinal cord, don’t repair themselves if damaged. In such cases, stem cells can be reprogrammed to trigger the repair and regeneration of the affected tissues.
Embryonic stem cells are cells from an early‑stage embryo that differentiate into all types of cells in the body (muscle cells, epithelial cells, etc.). Although their regenerative potential is immense, their use raises ethical questions since the cells are extracted from embryos.
Scientists can also use cell reprogramming techniques to transform cells that have already differentiated—such as skin cells—into stem cells that can change into other cell types. These cells are called induced pluripotent stem cells.
Cloning is a technique to create an organism that is genetically identical to another. A famous example is Dolly, a sheep that was cloned in 1996. Learn more about Dolly here: DOLLY – Britannica
Ethical issues
Biotechnology opens up a world of possibilities. However, it also raises ethical questions about human responsibility and respect for life.
DNA: The Code of Life!
What is DNA?
DNA, which stands for deoxyribonucleic acid, is a molecule found in the cells of all living organisms that contains the genetic information an organism needs to develop, grow and function.
The complete set of genetic material that makes up an organism’s DNA is called its genome. Genomes vary between species, as well as within species and between individuals.
A genome is like a big recipe book. Genes are the recipes in the book that are used to produce a specific component that the organism needs to function.
DNA structure
The double helix code
DNA is a very long molecule with two strands shaped like a twisted ladder. This shape is what gives it the name double helix.
The DNA strands are made of alternating sugar (deoxyribose) and phosphate molecules. Each sugar molecule bonds to one of four nitrogenous bases called adenine (A), thymine (T), cytosine (C) and guanine (G). When these bases form pairs, A always goes with T and C always goes with G. These pairs link the two strands together to form the “rungs” of the ladder.
How is DNA decoded?
The term genetic code refers to the order that the nitrogenous bases follow each other on a strand of DNA, an example being A-C-C-A-T-T-C-G-C-T. Genetic sequencing lets us decipher this code. These letters can be thought of as an alphabet forming words in a recipe that help us understand how organisms are put together.
A genome is made up of both coding and non-coding DNA. Coding DNA contains information that creates a protein. This type accounts for about 2% of the genome. The non-coding parts include promoters, stop codons and enhancers that regulate the expression of certain genes. The role of some non-coding DNA is still not fully understood.
Where is DNA located?
All of an organism‘s cells, except its gametes, contain a complete copy of its genetic material.
Animal and plant cells are called eukaryotic, which means they have a nucleus that stores DNA. Organisms, such as many microorganisms, that do not have a nucleus in their cells are called prokaryotic. In these cells, the DNA floats in the cytoplasm and clusters into a mass called the nucleoid.
In eukaryotic cells, the DNA—which contains all of an organism’s genetic information—stays in the nucleus, where it is protected and compacted.
To get the genetic information out of the nucleus, the DNA is copied into RNA. Messenger RNA then leaves the nucleus to direct protein synthesis in the cytoplasm, while other types of RNA, such as ribosomal RNA and transfer RNA, actively help different parts of the cell to function.
In eukaryotic cells, DNA is also found in mitochondria and chloroplasts.
Mitochondria are organelles that produce energy (ATP). This type of DNA is different from nuclear DNA. It has a circular shape and is transmitted from one generation to the next through the mother’s egg cells. This means that an entire maternal line will have the same mitochondrial DNA! (Note: Although rare, mitochondrial DNA can be passed on from the father. Studies are ongoing to understand how this happens.)
Chloroplasts are organelles that conduct photosynthesis. For a long time, it was thought that chloroplast DNA was also circular, but studies show that it is more often linear. Chloroplast DNA is passed on through egg cells or pollen and allows the chloroplasts to synthesize some of their proteins.
Although viruses are not made of cells, they do contain genetic material in the form of DNA or RNA. To replicate and spread, they need to hijack the mechanisms and resources of the cell they invade, called the host cell.
A DNA virus will enter the nucleus and deliver its viral genome into the host cell’s DNA. The virus then takes control of the cell’s machinery to produce viral proteins.
RNA viruses take over the ribosomes of infected cells directly to produce viral proteins.
DNA compaction: Big information in a small package
DNA is extremely long, and each human cell contains about 2 metres of this molecule! To fit the entirety of its genetic information into the tiny nucleus of a cell, DNA is compacted and coiled into chromatin.
Compaction also regulates access to DNA and controls gene expression. This is because compacted regions cannot be reached by RNA polymerases and therefore can’t be transcribed into RNA.
Chromatin is formed through multiple stages of compaction:
1. Proteins called histones form a spherical structure called the nucleosome. The DNA winds around this structure like a spool.
2. These nucleosomes become compacted to form chromatin, or strands of coiled DNA that look like beads on a necklace.
When cells divide, chromatin reorganizes itself into an even more compact form called chromosomes.
Humans have 23 pairs of chromosomes, with each pair assigned a number from 1 to 23. The first 22 pairs of chromosomes are called autosomes. The 23rd pair are the sex chromosomes, and these come in two types in humans: X and Y. The 23rd chromosome pair may consist of:
- two identical chromosomes (XX)
- two different chromosomes (XY)
The sex chromosomes do not always come in pairs, as an individual may have:
- a single X chromosome
Or
- three chromosomes (XXX, XXY or XYY)
An image of the size, shape, number and structure of an individual’s chromosomes can be produced with karyotyping, which involves taking a snapshot of chromosomes during cell division when the chromosomes are most visible.
Karyotyping is frequently done by medical geneticists to diagnose genetic disorders.
Chromosomes are passed on by the parents during sexual reproduction. Reproductive cells, called gametes, have one pair of chromosomes each. During fertilization, the gametes merge to form a zygote, which then inherits a complete set of chromosomes.
Each parent therefore passes on half of their chromosomes to their offspring.
Educational games
Educational space
Welcome to the Educational space
This platform is aimed primarily at secondary school students and science and technology teachers. It presents the basic concepts of genetics, as well as introducing the more advanced notions of genomics. Génome Québec also offers free classroom activities to help students put their knowledge into practice.
A reliable and relevant resource
The platform was developed with teachers and educational consultants to meet their needs, as well as the requirements of the Québec Ministry of Education’s Science and Technology program. In addition, all content and activities were developed with the support of scientific teams.
