DNA Day (April 25) is a day to recognise the importance of human genetics. The day is a global movement and celebrates the latest discoveries into DNA and the advances in genomic research that helped make progress possible. It also commemorates the completion of the Human Genome Project in 2003 Human Genome Project in 2003 and the discovery of DNA's double helix in 1953.

About DNA and genes

DNA (Deoxyribonucleic Acid) is where your genetic information is stored and contains our hereditary material and our genes – the things that make us unique. A gene is a portion of DNA which is the basic physical and functional unit of heredity. It is estimated that humans have between 20,000 and 25,000 genes!

Genetic research

Genetic research is the study of genes and heredity and how specific qualities and traits are passed from parents to their children resulting in changes to their DNA sequence. Scientists study these alterations to genes to develop strategies to treat and prevent human diseases.

Some genes act as instructions to make proteins and in inherited bleeding disorders, one of the specific proteins produced by genes are missing from the blood and therefore prevents the blood from clotting properly. The most common types of inherited bleeding disorders are:

• von Willebrand’s disease – the von Willebrand gene provides instructions for making a blood clotting protein called von Willebrand factor (VWF). This protein contains areas that attach to specific cells and proteins during the formation of a blood clot. VWF helps platelets stick together. The disease occurs when there isn’t enough VWF to clot the blood which is caused by mutations of the VWF gene. Over 300 mutations in the VWF gene have been found to cause von Willebrand disease.
• 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).

  

Cockburn resident John Wyatt participated in a ground-breaking clinical trial which has uncovered a new life-changing treatment for people with haemophilia. Pictured with his Grandson and PBI's Professor Ross Baker. 

The genes involved with the coagulation factor proteins were among the first human genes to be characterised over 25 years ago. The first genes to be sequenced were those implicated in haemophilia A and B. 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.

For pregnant women, diagnosis of VWF is very important as there is a significant increase in gynaecological bleeding associated with this condition. Having prior knowledge of this condition will improve the health outcomes for women with VWF after birth. This demonstrates the essential need for ongoing human genetic research into blood diseases, as it generates knowledge and reveals information about an individual’s susceptibility to potential life-altering conditions.

What does DNA mean to us?

At Perth Blood Institute, we acknowledge the significance of previous genetic research as it has provided crucial data into the cause and prevention of inherited blood diseases. John Wyatt (pictured above) was a patient with PBI and has haemophilia A. For decades he experienced debilitating health conditions; however, one of his greatest concerns was passing the gene onto his Grandsons. 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.

Human genome research reached a significant milestone in 2022 since the quest started 32 years ago. Researchers recently released a completed gap-free human genome sequence (gapless sequence of the human genome). Understanding the full spectrum of the genetic code that makes up a person will engender PBI researchers with the tools to achieve 'new discovery, better care'.

Help fund our research

Life with rare blood disorders may bring challenges. As we continue to receive generous donations from our loyal community, we are able to fund research to advance new treatments and help facilitate clinical trials of new drugs, helping to improve lives around the world. If you would like to donate to improve research, please visit our donation page. 

 

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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://rarediseases.info.nih.gov/diseases/4524/protein-s-deficiency
• https://medlineplus.gov/genetics/gene/vwf/#conditions
• https://www.alrc.gov.au/.../the-importance-of-human-genetic-research
• https://www.nigms.nih.gov/educatio/fact-sheets/Pages/genetics.aspx
• https://nationaltoday.com/national-dna-day/
• 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
• Lavin, M. et al., Examining international practices in the management of pregnancy women with von Willebrand disease. Thromb Haemost. 2022;20:82–91