DNA Day is a global movement and celebrates the latest discoveries into DNA.  The goal is to provide a platform for the public to learn about the most up-to-date advances in genetic research and discover where progress is being made and the impact they may have on their lives. To read more about DNA Day 2024 visit the website National DNA Day (genome.gov).

‘It has been over 70 years since the discovery of DNA's double helix.’

Genetic research is the study of genes and heredity. It looks at how specific qualities and traits are passed from parents to their children resulting in changes to their DNA sequence(s). It is estimated that humans have between 20,000 and 25,000 genes, and ongoing genetic research is essential for scientists to study alterations to genes to develop strategies to identify, treat and prevent human diseases.

The National Human Genome Research Institute reached a significant milestone in 2022 since the quest started 32 years ago – the recently completed “the first complete, gapless sequence of a human genome” (Telomere-to-Telomere).

Genes and clotting factors

Over 35 years ago, in the late 1980s, the genes involved with the coagulation factor proteins were among the first human genes to be identified. The primary genes to be sequenced were those implicated in haemophilia A and B.

Haemophilia A – a deficiency of Factor VIII which is an important protein involved in the clotting process.

Haemophilia B – a deficiency of Factor IX (also involved in blood clotting).

Soon after the discovery of the factor VIII and factor IX genes, strategies were introduced to include this latest information into haemophilia carrier testing and prenatal diagnosis.

PBI’s research and clinical trials have played a crucial component in developing new therapies and treatments for bleeding disorders such as haemophilia. In 2017, PBI participated in a clinical trial to test a new novel investigational agent designed to mimic (instead of replace) the missing function of Factor VIII in patients with Haemophilia A. This innovative treatment has gone on to be approved by the Therapeutic Goods Administration of Australia.

Factor V Leiden

Factor V Leiden (FVL) is a genetic mutation of the F5 gene. This gene is important as it delivers instructions for making the coagulation protein factor V, with the mutation of F5 increasing the possibility of blood clots. These irregular formation of blood clots can lead to ongoing serious health issues or become life-threatening. For more information visit our Factor V Leiden webpage.

Graham's Story

Factor V Leiden (FVL) is a rare condition and very difficult to diagnose, requiring genetic testing and mutation analysis among other diagnostic tests. Graham began to have an array of different symptoms that medical staff could not determine the cause, which resulted in Graham passing away. Later it was discovered Graham had FVL. Subsequently, his siblings have been tested and found to also have FVL.

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At Perth Blood Institute (PBI), we acknowledge the significance of previous genetic research as it has provided crucial data into the cause and treatment of inherited and rare blood diseases. John has the inherited blood disorder, haemophilia A and one of his greatest concerns was passing the gene onto his grandchildren. Thanks to genetic research, there is now an understanding of how haemophilia causing genes is passed down through generations. Testing can be carried out earlier in life and treatment started sooner to reduce symptoms associated with this blood disorder.

Understanding the full spectrum of the genetic code that makes up a person will engender the researchers at PBI with the tools to achieve ‘new discovery, better care’.

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References:

• https://genome.gov/dna-day
• https://www.health.qld.gov.au/haemophilia/html/i_bleed_disorders#:~:text=The%20most%20common%20types%20of,also%20known%20as%20Christmas%20Disease
• https://medlineplus.gov/genetics/understanding/basics/gene/#:~:text=Genes%20are%20made%20up%20of,more%20than%202%20million%20bases
• https://nationaltoday.com/national-dna-day/
• Factor V Leiden Mutation - StatPearls - NCBI Bookshelf (nih.gov)
• Ling G, Tuddenham EGD. Factor VIII: the protein, cloning its gene, synthetic factor and now - 35 years later - gene therapy; what happened in between? Br J Haematol. 2020 May;189(3):400-407. doi: 10.1111/bjh.16311.
• Peyvandi F, Kunicki T, Lillicrap D. Genetic sequence analysis of inherited bleeding diseases. Blood. 2013 Nov;122(20):3423-3431. DOI: 10.1182/blood-2013-05-505511.