Until there's a cure ... there's care

Prof Justin RubioBy Associate Prof Justin P. Rubio, Department of Pharmacology and Therapeutics, University of Melbourne, The Florey Institute of Neuroscience and Mental Health.

There are 40 trillion cells in our body and each has inside it the genetic code for life, the DNA genome. While as a species humans look quite diverse, we are actually very similar at the genomic level. What distinguishes our own DNA from other people’s are the natural variations in its code that we inherit from our parents. Most of this genomic variation doesn’t significantly impact our health, but sometimes it does. From research conducted so far, we know that genomic variations (otherwise known as mutations) in certain genes can predispose a person to developing MND in about 10% of cases, however, we are at a loss to explain the origin of the other 90% of MND in the community, including why it is so clinically variable.

In recent years, the cost of genomic research has come down substantially, and we are now able to generate the entire sequence of a person’s genome for around $2,000. This is in stark contrast to the cost of the first human genome sequence, completed in 2003, which cost USD $100 million. This drastic reduction in cost has fuelled the emergence of “single cell genomics”, a relatively new of field of research that seeks to understand complex biology by studying the genomes of individual cells.

In recent years, published research has shown that individual cells in our body, including neurons in our brain, develop literally 1000s of mutations in their genome over and above what we inherit from our parents. These “somatic” mutations can be shared between many cells, a few cells or be unique to a single cell, and together, constitute a “barcode” that can be studied to understand the origin and life story of the cell.

Our research seeks to apply single cell genomics to MND as we believe it will provide insight into the complex biological processes involved in the development and progression of disease. Our research is reliant on people with MND who donate to the Victorian Brain Bank, as we use this post-mortem tissue to isolate and study the individual genomes of motor neurons and construct their life stories. If we can piece together the life stories of many motor neurons from different people who had MND, we hope to be in a better position to develop effective medicines.

Each of the 40 trillion cells in our body has deoxyribose nucleic acid (DNA), nature’s ultimate data storage molecule, and the genetic code for life. DNA is a long molecule packaged into the cell’s nucleus, like a piece of string, and it is comprised of four DNA bases, known as Adenine, Cytosine, Guanine and Thymine. Different arrangements of 3 billion of these DNA bases comprise the human genome, with about 1% of this arranged into specific sequences that encode about 20,000 genes. These genes encode proteins, which do a lot of the work in our cells, helping them to carry out their designated functions and keeping us healthy. Alterations to the DNA code of certain genes (termed mutations) can alter cell function and sometimes lead to diseases, such as MND.

A/Prof Rubio's research is funded by MND Victoria through the Jenny Simko MND Research Grant.

If you attended the Rock Off MND event in Geelong, then you have personally contributed to support this research - THANK YOU!


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