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Scientists Use Pocket-size Device to Map Human Genetic Code

The MinION works by detecting the change in current flow as single molecules of DNA pass through a nanopore

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Scientists have found a way of mapping out human DNA.
Scientists have found a way of mapping out human DNA.
  • Scientists have found out technology that can map human genetics
  • This will be done with a DNA sequencer
  • This technology can bring a revolution in the field of study of genetics

Scientists have assembled the most complete human genome to be mapped with a single technology using a new pocket-size portable DNA sequencer, which they say could one day make genome mapping quick and simple enough to do at home.

“If you imagine the process of assembling a genome … is like piecing together a jigsaw puzzle, the ability to produce extremely long sequencing reads is like finding very large pieces of the puzzle, which makes the process far less complex,” said Nick Loman, a professor at the University of Birmingham’s Institute of Microbiology and Infection who co-led the work.

This discovery in the field of genetics can bring revolution. VOA
This discovery in the field of genetics can bring revolution. VOA

Understanding and interpreting the human genome is a cornerstone of modern medicine, offering a wealth of information about a person’s inherited genetics risks, the antibodies they have, or how their diseases — such as cancer — have developed.

The first mapping of the human genome — essentially a person’s genetic recipe — was completed in 2003. It cost government-funded scientists $3 billion and 13 years of work.

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‘Landmark for genomics’

Loman said the mini-sequencer may soon allow genome mapping to become a routine part of medical care.

“At the moment, sequencing is quite laborious and occurs in expensively equipped laboratories,” he said. “But in future, we can imagine sequencing using pocket-size devices in [doctors’] surgeries, in clinics and even in people’s own homes.”

DNA sequencing is an expensive process which is expected to become cheaper in future. Wikimedia Commons
DNA sequencing is an expensive process which is expected to become cheaper in future. Wikimedia Commons

The MinION works by detecting the change in current flow as single molecules of DNA pass through a nanopore — or tiny hole — in a membrane. Mapping a human genome with this device costs around $1,000.

“This is a landmark for genomics,” said Matt Loose of the University of Nottingham, who worked with Loman. “The long reads that are possible with nanopore sequencing will provide us with a much clearer picture of the overall structure and organization of the genome than ever before.” VOA

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Here’s Why Genes Are Linked to Autism Risk

Research tested the ability of a low dose of the drug Ketamine, which is used clinically at higher doses as an anesthetic, to normalise the alterations in brain function induced by genetic deletion

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Autism
Importantly, the researchers found that the ability of the brain regions to communicate with other brain areas is impaired by the genetic deletion leading to Autism. Pxabay

Researchers have discovered how a genetic alteration that increases the risk of developing Autism and Tourette’s impairs brain communication.

People with a genetic deletion known as chromosome 2p16.3 deletion often experience developmental delay and have learning difficulties.

They are also around 15 times more likely to develop Autism and 20 times more likely to develop Tourette’s Syndrome, but the mechanisms involved are not completely understood.

Using brain imaging studies, neuroscientists showed that deletion of the gene impacted by 2p16.3 deletion (Neurexin1) have impacts on the function of brain regions involved in both conditions.

This genetic deletion disrupts a brain area known as the Thalamus, compromising its ability to communicate with other brain areas, said the study published in the journal Cerebral Cortex.

“We currently have a very poor understanding of how the 2p16.3 deletion dramatically increases the risk of developing these disorders,” said lead researcher Neil Dawson of Lancaster University in Britain.

“However, we know that the 2p16.3 deletion involves deletion of the Neurexin1 gene, a gene that makes a protein responsible for allowing neurons to communicate effectively,” Dawson said.

Deletion of the Neurexin1 gene affects brain areas involved in Autism and Tourette’s including the Thalamus, a collection of brain regions that play a key role in helping other brain areas communicate with each other.

Changes were also found in brain regions involved in processing sensory information and in learning and memory.

Importantly, the researchers also found that the ability of the Thalamic brain regions to communicate with other brain areas was impaired by the genetic deletion.

Autism
Researchers have discovered how a genetic alteration that increases the risk of developing Autism and Tourette’s impairs brain communication. Pixabay

They then tested the ability of a low dose of the drug Ketamine, which is used clinically at higher doses as an anesthetic, to normalise the alterations in brain function induced by genetic deletion.

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“Intriguingly our data suggest that Ketamine can restore some aspects of the brain dysfunction that results from 2p16.3 deletion and suggests that ketamine, or other related drugs, may be useful in treating some of the symptoms seen in autism and Tourette’s,” Dawson said. (IANS)