DNA Day is a global movement and celebrates the latest discoveries into DNA and the advances in genomic research that helped make progress possible. This year the day commemorates 20 years of the completion of the Human Genome Project and the 70th anniversary of the discovery of DNA's double helix. To read more about DNA Day 2023 visit the website National DNA Day (genome.gov)

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(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.

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. Inherited bleeding disorders include:

Sickle cell disease (also known as sickle cell anaemia) affects haemoglobin (the protein which carries oxygen through the body). Normally red blood cells are disc-shaped and flexible, in sickle cell disease they are crescent-shaped and do not bend or move easily, potentially blocking blood flow. This can lead to serious problems including stroke, eye problems and infections.

von Willebrand’s disease (VWD) – 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.

For pregnant women, if suspected a correct diagnosis of VWD 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 VWD 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.

In the late 1980s, the genes involved with the coagulation factor proteins were among the first human genes to be characterised.

Haemophilia A – a deficiency of Factor VIII and Haemophilia B – a deficiency of Factor IX are important proteins involved in the clotting process. 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.

At Perth Blood Institute, 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.


Myelofibrosis is a rare type of blood cancer that interrupts the body’s normal production of blood cells. This condition can cause widespread scarring in the bone marrow, leading to severe anaemia.

Andrew was diagnosed with myelofibrosis by Dr Maan Alwan, one of PBI's haematologists and clinical investigators. As the only known cure for myelofibrosis is stem cell transplant, treatment of the symptoms is critical for long-term management of the condition. Research has shown that discovering the specific mutations for the different types of myelofibrosis can enable the development of exclusively genetic and clinically integrated prognostic models that facilitate individualised treatment decisions. After just over 12 months being on the trial, Andrew has shown positive blood test results. You can read about Andrew’s journey HERE.

“I see the future of myelofibrosis treatment being tailored for every individual depending on their genetic mutations and also their clinical picture.” Dr. Alwan

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 (https://www.genome.gov/about-genomics/telomere-to-telomere).  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”.