Friday January 18, 2019

Australian university research holds out hope for thalassemia patients

UNSW is home to more than 52,000 students from nearly 130 countries

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There are 29 types of blood groups in reality.
There are 29 types of blood groups in reality.

Researchers at the University of New South Wales (UNSW) in Sydney, Australia, have used CRISPR gene editing technology to introduce beneficial natural mutations into blood cells to boost production of foetal haemoglobin.

The method could lead to new therapies for sickle cell anaemia and other blood disorders, says the university. The research solves a 50-year-old mystery about how these mutations — which are naturally carried by a small percentage of people — operate and alter the expression of human genes.

A total of 100 men had serum levels indicative of hyponatremia. Wikimedia Commons
People with thalassemia have defective adult haemoglobin. Wikimedia Commons

The details of the study, carried out by an international team led by UNSW scientist Professor Merlin Crossley, is published in the journal Nature Genetics. Genome editing or gene editing give scientists the ability to change an organism’s DNA. These technologies allow genetic material to be added, removed or altered at particular locations in the genome.

“Our new approach can be seen as a forerunner to ‘organic gene therapy’ for a range of common inherited blood disorders including beta thalassemia and sickle cell anaemia,” said Professor Crossley, who is also UNSW Deputy Vice-Chancellor Academic.

“It is organic because no new DNA is introduced into the cells. Rather, we engineer in naturally occurring, benign mutations that are known to be beneficial to people with these conditions. It should prove to be a safe and effective therapy, although more research would be needed to scale the processes up into effective treatments,” he added.

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People with thalassemia or sickle-cell anaemia have defective adult haemoglobin — the vital molecule that picks up oxygen in the lungs and transports it around the body — and require life-long treatment with blood transfusions and medications.

According to UNSW, it has engaged in a series of initiatives with the Indian government, higher education institutions, and corporations for sharing and transfer of its vast pool of tech expertise. This sets UNSW apart from host of other institutions that see India as a one-way street to train Indian students. UNSW is home to more than 52,000 students from nearly 130 countries. IANS

Next Story

Novel DNA Tool Can Help You Trace Your Origins to Vikings

The researchers found that ancient genomes typically consist of hundreds of thousands and sometimes millions of markers

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DNA
New DNA tool can trace your origins to Vikings, Pixabay

Think, that your ancestors were Roman Britons, Vikings or ancient Israelites? A new DNA tool can help you trace your similarity to these ancient people who once roamed the earth, say researchers.

Currently the study of ancient DNA requires a lot of information to classify a skeleton to a population or find its biogeographical origins.

But, scientists from the UK’s University of Sheffield, defined a new concept called Ancient Ancestry Informative Markers (aAIMs) — a group of mutations that are sufficiently informative to identify and classify ancient populations.

They found that the identification of a small group of aAIMs that can be used to classify skeletons to ancient populations.

“We developed a new method that finds aAIMs efficiently and have proved that it is accurate,” said lead author Eran Elhaik, from Sheffield’s Department of Animal and Plant Sciences.

The new tool identifies aAIMs by combining traditional methodology with a novel one that takes into account a mixture.

DNA double helix
DNA double helix. Wikimedia

People are currently unable to trace their primeval origins because commercial microarrays, such as the ones used for genetic genealogy, do not have relevant markers.

But aAIMs is like finding the fingerprints of ancient people, Elhaik noted.

“It allows testing of a small number of markers – that can be found in a commonly available array – and you can ask what part of your genome is from Roman Britons or Viking, or Chumash Indians, or ancient Israelites, etc,” he explained.

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“We can ask any question we want about these ancient people as long as someone sequenced these ancient markers.”

The researchers found that ancient genomes typically consist of hundreds of thousands and sometimes millions of markers.

“We demonstrated that only 13,000 markers are needed to make accurate population classifications for ancient genomes and while the field of ancient forensics does not exist yet, these aAIMs can help us get much closer to ancient people,” Elhaik said. (IANS)