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 ...

Did Teddy Evans fatally undermine Scott of the Antarctic?

October 5, 2017
The 1912 death of Scott of the Antarctic and four companions has long been blamed on poor planning by Scott, but documents discovered by a UNSW researcher reveal a different story – and a possible cover up.

Test identifies Red Angus carriers of bone disease

September 29, 2011
A new test that detects a rare and deadly bone disorder in Red Angus is now available to cattle producers, thanks to U.S. Department of Agriculture (USDA) scientists.

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

Overcoming a major barrier to developing liquid biopsies

July 16, 2018
The idea of testing blood or urine to find markers that help diagnose or treat disease holds great promise. But as technology has improved to allow researchers to examine tiny fragments of RNA, one major problem has led to ...

Genetic marker for drug risk in multiple sclerosis offers path toward precision medicine

July 16, 2018
A team of researchers has uncovered a specific gene variant associated with an adverse drug reaction resulting in liver injury in a people with multiple sclerosis (MS). It is the first time researchers have been able to establish ...

Researchers suggest new treatment for rare inherited cancers

July 16, 2018
Studying two rare inherited cancer syndromes, Yale Cancer Center (YCC) scientists have found the cancers are driven by a breakdown in how cells repair their DNA. The discovery, published today in Nature Genetics, suggests ...

AI accurately predicts effects of genetic mutations in biological dark matter

July 16, 2018
A new machine learning framework, dubbed ExPecto, can predict the effects of genetic mutations in the so-called "dark matter" regions of the human genome. ExPecto pinpoints how specific mutations can disrupt the way genes ...

Researchers discover gene that controls bone-to-fat ratio in bone marrow

July 12, 2018
In an unexpected discovery, UCLA researchers have found that a gene previously known to control human metabolism also controls the equilibrium of bone and fat in bone marrow as well as how an adult stem cell expresses its ...

Massive genome havoc in breast cancer is revealed

July 12, 2018
In cancer cells, genetic errors wreak havoc. Misspelled genes, as well as structural variations—larger-scale rearrangements of DNA that can encompass large chunks of chromosomes—disturb carefully balanced mechanisms that ...

0 comments

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.