Genetic technology is 'changing the way we do medicine'

November 30, 2017, University of South Australia
Genetic technology is ‘changing the way we do medicine’
Credit: University of South Australia

Aldgate schoolboy Angus Bond is the human face of the genomic revolution being led by South Australian researchers. 

The nine-year-old, who has the rare bone marrow disease Diamond-Blackfan Anemia (DBA), has given UniSA and SA Pathology researchers a global breakthrough in genetic mapping. 

Thanks to state-of-the-art genetic DNA sequencing technology being employed by UniSA and SA Pathology Professor Hamish Scott and his team at the Centre for Cancer Biology, the cause of Angus's condition has been correctly diagnosed after years of failed tests. 

His condition prevents bone marrow from producing enough to move oxygen around the body, necessitating more than 100 blood transfusions in his short life. 

The world's leading diagnostic laboratory in the United States could find no definitive cause for Angus's condition, but subsequent analysis by Prof Scott's team pinpointed the genetic mutation. 

"Using new genetic technology, we are now able to test a complete set of human genes in a single sweep, so we can see the 'spelling mistakes' in DNA," Prof Scott Says. 

"By identifying these spelling mistakes we can more rapidly diagnose genetic diseases and cancer and pinpoint where to target our therapies, reducing both time and costs." 

Prof Scott's lab was also able to identify why Angus was transfusion dependent for two years – in what doctors called "a spontaneous remission". 

"In some of the cells in Angus's , the DNA from one chromosome had spontaneously copied itself to fill in the missing DBA gene. The finding raises the possibility of selecting for these repaired cells in patients or replicating the same changes in other patients using revolutionary gene or cell therapy approaches," Prof Scott says. 

The breakthrough has now been documented in a new paper released today in Haemotologica, the journal of the European Hematology Association and the Ferrata Storti Foundation. 

"South Australia is at the forefront of this biomedical revolution and – without doubt – sequencing technology is changing the way we understand human health and disease," Prof Scott says. "However, we desperately need additional investment to continue this work." 

Prof Scott says people can help support the research by donating to the Centre for Cancer Biology or the Captain Courageous Foundation, a non-for-profit organisation established by Angus's mother Jessica Bond, exploring cures for rare blood diseases. 

Explore further: Researchers reveal developmental mechanisms behind rare bone marrow disorder

More information: Parvathy Venugopal et al. Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient, Haematologica (2017). DOI: 10.3324/haematol.2017.166678

Related Stories

Researchers reveal developmental mechanisms behind rare bone marrow disorder

April 12, 2017
Myelodysplastic syndrome is an umbrella term used to describe disorders characterized by the bone marrow's inability to produce normal blood cells. Researchers from Charité - Universitätsmedizin Berlin have found that a ...

Rare cause of anemia in newborns often overlooked, research suggests

December 7, 2013
Some babies diagnosed with and treated for a bone marrow failure disorder, called Diamond Blackfan Anemia, may actually be affected by a very rare anemia syndrome that has a different disease course and treatment, say scientists ...

Scientists give tumor-fighting cells a boost in battling bone marrow cancer

June 1, 2017
Researchers from Belgium led by Prof. Dirk Elewaut of the VIB-UGent Center for Inflammation Research and the team of Prof. Vanderkerken and Prof. Menu at the Hematology and Immunology lab of the VUB uncovered a new way to ...

CAR T-cell therapy for leukemia leads to remissions in clinical trial

July 17, 2017
Researchers at Fred Hutchinson Cancer Research Center showed about 70 percent of patients with the most common adult leukemia had their tumors shrink or disappear following an experimental chimeric antigen receptor (CAR) ...

Recommended for you

Once-mysterious 'Atacama Skeleton' illuminates genetics of bone disease

March 22, 2018
The skeleton, discovered in a leather pouch behind an abandoned church, was pristine: a tiny figure, just six inches long, with a cone-shaped head, 10 pairs of ribs, and bones that looked like those of an eight-year-old child. ...

Early life experiences influence DNA in the adult brain

March 22, 2018
In the perennial question of nature versus nurture, a new study suggests an intriguing connection between the two. Salk Institute scientists report in the journal Science that the type of mothering a female mouse provides ...

Study reveals startlingly different tissue sensitivities to cancer-driving genes

March 22, 2018
New research led by Harvard Medical School and Brigham and Women's Hospital has unmasked hundreds of cancer-driving genes and revealed that different tissue types have shockingly variable sensitivities to those genes.

Does genome sequencing increase downstream costs?

March 22, 2018
As genome sequencing enters the clinic, fears have arisen about its potential to motivate follow-up testing and ongoing screening that could drastically increase health care spending. But few studies have quantified the downstream ...

First 'non-gene' mutations behind neurodevelopmental disorders discovered

March 21, 2018
In the largest study of its kind, genetic changes causing neurodevelopmental disorders have been discovered by scientists at the Wellcome Sanger Institute and their collaborators in the NHS Regional Genetics services. The ...

Two genes likely play key role in extreme nausea and vomiting during pregnancy

March 21, 2018
Most women experience some morning sickness during pregnancy, but about 2 percent of pregnant women experience a more severe form of nausea and vomiting.


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.