In this article, we will break down the question, “What is genomics?”, and the science behind it into easy-to-understand chunks.
Let’s start with the Genome.
What is genomics? Firstly, let’s start with the Genome. It’s the genetic blueprint found in nearly all organisms, guiding our bodies’ building, maintenance, and regulation. Each cell holds DNA, totalling about 3 billion base pairs. Adenine (A) and thymine (T) pair together, and cytosine (C) and guanine (G) pair together. These bases encode an estimated 20,000-25,000 genes in the human genome.
The genome is a blueprint for building a human body from a single cell. As cells divide and form tissues and organs, genes are selectively expressed, producing the required proteins to direct cellular structure and activity.
Moreover, beyond initial development, the genome regulates lifelong processes like growth, repair, metabolism, and environmental responses throughout an individual’s lifetime.
Further, the genome holds instructions for development, function, and maintenance of all across almost all living beings. Studying genomics can reveal insights into health, disease, and guide personalised medicine, based on individual genetic makeup.
Your genome codes proteins, and no not the kind you eat!
Your Genes provide the instructions for producing proteins, which are the functional molecules carrying out most biological processes in the body. The specific sequence of bases in the DNA determines the order of amino acids that make up each protein, ultimately dictating the protein’s structure and function. The human body is estimated to contain between 80,000 to 400,000 different proteins. However, this number varies depending on factors like cell type, age, diet, health status, and environmental influences. There are an estimated 1,656 proteins that are considered “housekeeping” proteins keeping and maintaining your cells present in all 32 tissue types analysed in a major proteomics study.
What happens to your genome when something goes wrong in your DNA?
Mutations alter an organism’s DNA sequence. They stem from replication errors, mutagen exposure (e.g., radiation, chemicals), or spontaneous DNA structure changes.
When a mutation occurs it alters the nucleotide sequence of the genome (A,T,C,G), occurring in genes or non-coding DNA regions. Spontaneous errors in DNA replication or repair, or external factors like ultraviolet radiation, ionising radiation, and chemical mutagens, induce mutations.
Changes in gene coding regions can modify protein amino acid sequences, potentially impacting structure and function, contributing to genetic disorders or diseases such as cancer.
However, not all mutations have harmful effects; some may be neutral or even beneficial by providing advantageous traits that are ‘selected’ during the evolutionary process. That’s how all living beings evolved!
Specific gene mutations in cells can trigger the onset of cancer. Individuals may inherit these mutations from parents or acquire them during their lifetime. As individuals age, cells accumulate DNA damage, and DNA repair mechanisms weaken, heightening the risk of cancer.
Therefore, it’s crucial to acknowledge cancer’s complexity, and how it often arises from multiple genetic and environmental factors interacting over time. While some risk factors are inevitable, adopting a healthy lifestyle and minimising exposure to known carcinogens can mitigate the risk of certain cancers.
To answer the question, “What is genomics?”, Genomics is the study of an organism’s complete set of genetic material, known as the genome. It encompasses the structure, function, evolution, mapping, and editing of genomes.
And, if you’ve recently received a cancer diagnosis, Gena is here to support you through your treatment. We can help you and your clinician understand your genome and the genetic mutations potentially contributing to your disease. This can help to identify potential available treatment options.
If you’ve recently been diagnosed with cancer, please reach out we are always here for a chat!
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Skomer founded Gena after his mother passed away from Glioblastoma, a devastating brain cancer. As her caregiver and a cancer researcher, he witnessed the severe limitations in treating rare cancers.
Thus, Gena was born. Gena’s mission is to give cancer patients access to all available personalised treatment pathways. Informing better treatment decisions. Empowering cancer patients.
Skomer previously worked in the tech sector, responsible for building scaling teams. He completed his MSc at UCL’s School of Engineering in 2022, having written his dissertation on the applications of genomics within the health sector and beyond.
