• CRISPR is a gene editing technology with enormous potential to cure disease

• CRISPR technology has prompted international debate due to its ability to alter DNA in human embryos

• Genome correction of embryos is illegal in Australia but scientists want the laws to be changed

Science is experiencing a golden age in gene editing thanks to a new technology called CRISPR, credited with potential applications in everything from gene therapy and drug research to diagnosing viruses.

CRISPR works as a type of molecular scissors by combining a DNA-cutting enzyme with a molecular guide that can selectively trim away unwanted parts of the genome and replace it with new stretches of DNA.

In 2015, CRISPR was named breakthrough of the year however its application in medicine is subject to much debate.

In August 2017, CRISPR technology attracted global media attention after scientists in the US and Korea successfully freed embryos of a piece of faulty DNA that causes deadly heart disease to run in families. This discovery could potentially open the door to preventing 10,000 disorders that are passed down the generations.

In the study, the genetic repair happened during conception. Sperm from a man with hypertrophic cardiomyopathy was injected into healthy donated eggs alongside CRISPR technology to correct the defect. Although it did not work all the time, 72% of embryos were free from disease-causing mutations.^[1]

Dr Shoukhrat Mitalipov, a key figure in the research team, said: “Every generation on would carry this repair because we’ve removed the disease-causing gene variant from that family’s lineage. By using this technique, it’s possible to reduce the burden of this heritable disease on the family and eventually the human population.”

Ethical concerns

While the UK, Sweden and North America press forward on research involving human embryos, genome correction of human embryos is currently illegal in Australia. Scientists have pushed for a relaxation of these laws but opinion is divided.

Dr Sara Howden, Senior Research Officer and Gene Editing Core Facility Director at Murdoch Childrens Research Institute says the technology raises concerns about the creation of unintended DNA changes that are inherited by future generations:

“CRISPR/Cas9 is still a very new technology and most experts in the field would agree that we must be very cautious about using this technology to create lasting changes that are passed on to subsequent generations as this could have undesirable and unpredictable consequences. Further studies are needed, even those using human embryos that would otherwise be discarded, to fully evaluate its safety and address its potential risks.”

Professor John Rasko, Head of the Gene and Stem Cell Therapy Program, Centenary Institute, believes the law should be changed to allow embryonic editing in research settings:

“Extensive research from the UK indicates that CRISPR is a safe and effective tool for genomic editing. The technology is advanced enough to be used in Australian research settings and I think the law should reflect this. While I support embryonic editing, it’s important to note that very few diseases can be cured through this method. Most hereditary illnesses can be detected and managed using pathology tests such as pre-natal blood tests and IVF screening.”

NSW Stem Cell Network regularly holds events for the scientific community to discuss the risks and benefits of genomic editing.  In March, the organisation publicly called on regulators to consider changing Australian laws to permit some gene editing of embryos for therapeutic purposes.

Embryonic editing is an increasingly pertinent issue for Australian scientists and more discussion is needed to evaluate its ethical, legal and social implications. With further campaigning from universities and scientific institutes, it is likely that genomic editing could be available by 2020.

^[1] BBC News – Human embryos edited to stop disease

The post Medical breakthrough or ethical minefield: Should CRISPR be used on human embryos? first appeared on Know Pathology Know Healthcare.

We’ve spoken a lot about the potential uses of CRISPR – the gene-editing technology that has been a constant of health research headlines recently.

The technique, which allows scientists to make specific changes in DNA without killing cells, has now been harnessed in what is being labelled a ‘breakthrough’ in the diagnosis and treatment of Parkinson’s disease.

A team of researchers at the University of Central Florida has used the technology to “light up” and monitor a brain protein called alpha-synuclein that has been associated with Parkinson’s.

Everyone has alpha-synuclein present in their brain but a person with Parkinson’s will develop abnormal levels of the protein. The researchers’ hope is that by monitoring the protein in the cell they will be able to measure what causes it to go up and what treatments can make it go down. This could be beneficial in the identification of new drug therapies for Parkinson’s disease.

Parkinson’s disease is a debilitating degenerative disorder involving the malfunction and death of vital nerve cells in the brain, called neurons. The disorder affects around 80,000 Australians. There is currently no single test to diagnose it and no cure.

The team used CRISPR to edit the alpha-synuclein gene and inserted a luminescent tag made from proteins that light up. This meant that every time a cell created the alpha-synuclein protein, the tag would give off a light, making it much easier to monitor if too much alpha-synuclein was being produced.

Associate Professor Yoon-Seong Kim, one of the study’s lead researchers said;

“CRISPR is the most powerful and widely used gene-editing technique in use because it allows us to change the DNA in living cells.

The innovation of this method is that it enables us to monitor this gene in real-time without killing the cell. Without the CRISPR Cas-9 method, you would have to extract all the proteins from the cell to measure them, which kills the cell.”

With the new technology, the scientists hope to identify ways to reduce alpha-synuclein production that can possibly prevent Parkinson’s or its progression in patients diagnosed with the disease.

“If we take one of these modified cells and treat it with a particular drug, if it doesn’t produce light anymore, then this means the drug is a potential treatment for this disease,” Sambuddha Basu, another researcher on the team, said.

With the engineered cells, the researchers will screen new and existing drugs and hope to also focus on what aspects of the alpha- synuclein protein kill neurons during Parkinson’s disease.

The team published its findings in the Scientific Reports journal.

The post CRISPR tech leads to new screening tool for Parkinson’s disease first appeared on Know Pathology Know Healthcare.

At the age of 8 Bridgette asked for a microscope for Christmas and told her mum she wanted to be a haematologist. She was later diagnosed with leukaemia via a routine blood test and has been undergoing treatment for over a year.

We took Bridgette inside the lab where her diagnosis was made to meet the pathology team who conducted the test and see the original blood film that led to her being rushed to hospital one Friday evening.

Bridgette is also a keen inventor and has won a trip to NASA for creating a handy sticking plaster dispenser, congratulations Bridgette!

Genome.One became the first Australian institute sequencing whole human genomes, giving hope to people with rare genetic conditions

Professor Leslie Burnett told us that whole genome sequencing is pretty special. Scientists can look at all a person’s genetic information – about 100 times more data than was previously available to clinicians. “Barely a week goes by that we don’t come across something we haven’t seen before,” said Prof Burnett, “Put simply, this test can provide the answers that no other test is capable of.”

The first patients to undergo sequencing are those most likely to benefit; where all other testing has been exhausted and rare genetic conditions may be the cause of illness.

International experts praised Australian pathology

Despite being fast, accurate and an integral part of healthcare, pathology isn’t often in the public eye. However, while visiting Brisbane in September, American pathology expert Paul Epner wrote that Pathology is chronically undervalued and it needs to stop.

Another big name in the pathology world, editor of the widely read Dark Daily, Robert Michel visited Sydney in November and suggested that strategic use of testing could benefit the Australian health budget, in short; If you want to save money, test more, not less.

DNA leading the way

Amazing breakthroughs in DNA testing have happened this year and the progress in genetics could soon revolutionise how doctors test and treat cancer and other conditions with a genetic component. Genetic testing is already used to personalise medicine for certain cancers but some of this year’s most exciting advances are in ‘liquid biopsy’ techniques and the magical world of CRISPR.

We took 23 politicians into the lab to see the power of pathology

From the Leader of the Opposition visiting labs in 5 states to Senator Jan McLucas in Mackay seeing how valuable pathology is for remote communities, a total of twenty-three politicians joined us inside the engine room of healthcare in 2016.

Full details of all the parliamentarians who have toured pathology labs are available on our politicians page.

The post Our top 5 pathology moments of 2016 first appeared on Know Pathology Know Healthcare.