Latest test shows childhood genetic disorders ‘transformational’

NaijaAgroNet:

The near exhausting way doctors are often forced to diagnose a group of rare genetic disorders in children could be transformed by a new test developed by The University of Manchester and Saint Mary’s Hospital, reports NaijaAgroNet.

Inborn errors of metabolism (IEMs), NaijaAgroNet reports, are rare inherited conditions where enzymes that break down toxins or serve other essential functions in the body are missing. 

There are more than 500 IEMs – some as rare as only one in several thousand individuals. But collectively they are common, affecting the lives of thousands; many children die before they reach adulthood. 

According to the team, the test could help around half of all children affected by IEMs. It can also be used for prenatal testing, helping parents to plan for future pregnancies. 

The researchers combined a test for more than 200 IEMs by using technology known as ‘Next generation sequencing’ of DNA. 

The single blood or saliva test could replace the battery of stressful tests children - and parents-  must endure-  including invasive procedures such as biopsies or spinal taps. 

The findings, published in the Archives of Disease in Childhood, may also enable diagnosis of some rare disorders, that were previously not possible using traditional approaches. 

Many IEMs are associated with a shortened life span; others may be less severe but cause serious problems, affecting the brain, bones, gut and liver. 

Dr Siddharth Banka, Dr Arunabha Ghosh, Dr Simon Ramsden and Dr Simon Jones at The University of Manchester and Saint Mary’s Hospital led the project. 

Dr Banka, Consultant Clinical Geneticist and Clinical Senior Lecturer said: “Using cutting edge technology at the Manchester Centre for Genomic Medicine, we have demonstrated that Next Generation Sequencing could transform the diagnosis of patients with these rare genetic conditions. 

“We hope this will mean a child can be diagnosed accurately without having to undergo difficult and invasive tests, improving access to treatment.” 

The researchers analysed the new test in 102 individuals with suspected childhood-onset IEMs. 

In 50% of the individuals, the new test fully or partially established the molecular cause to facilitate diagnosis. 

The researchers also found that using NGS after biochemical testing, such as blood and urine, helped to avoid further invasive, lengthy or expensive investigations in 69% of the individuals. 

Dr Jones said: “After the initial study period, we are now using this test regularly in Manchester and over 350 patients have already benefitted."

Dr Ghosh said: “We have shown it is highly reliable and can be easily done when a doctor suspects that a patient may have an inborn error of metabolism.

"In the long run we believe this test will save money for the NHS.” 

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Cancer treatment: Experts discover how oxygen levels in tumours affect response

NaijaAgroNet:

Experts at the United Kingdom-based Manchester Cancer Research Centre (MCRC), a partnership project founded by The University of Manchester, have revealed the disclosure that the genetic make-up of a patient’s tumour could be used to personalise their treatment, reports NaijaAgroNet.

This, NaijaAgroNet gathered would help to decide whether cancer patients would benefit from receiving additional drugs as part of their radiotherapy programme, according to a recent study involving scientists from MCRC.

Experts said tumours with lower levels of oxygen, otherwise known as hypoxia often respond less well to radiation therapy.

“There are several agents that can be given to patients before radiotherapy to reduce hypoxia, but these are not given as standard. Being able to measure how well-oxygenated an individual’s tumour is would give doctors a valuable way of identifying which patients might benefit from treatment with hypoxia reducing agents before radiotherapy,” MCRC scientists explained.

They further said, hypoxia has previously been investigated by looking at the expression of certain genes, and Manchester researchers have come up with a genetic profile for tumours that should indicate the overall level of oxygenation.

NaijaAgroNet reports that researchers at MCRC carried out the study in patients diagnosed with cancer of the bladder and larynx, stressing these patients subsequently underwent either standard radiotherapy or radiotherapy with the addition of two agents which in combination are known to increase oxygenation: nicotinamide and carbogen.

The team tested patients’ tumour samples for 26 genes in order to classify them as more or less hypoxic, and then analysed whether this hypoxia score related to the results of treatment.

Leader of the team, Prof. Catharine West of The University’s Institute of Cancer Sciences, said “Our goal is to find ways of predicting how patients will respond to different treatments.

“Future cancer treatments will be personalised so that patients get the best therapy for their tumour,” she said, pointing out that personalising therapy will not only increase the number of people surviving cancer but also decrease side-effects, as patients would be spared from having treatments that are unlikely to work in their tumour.

Prof. West emphasised that they will now test how the hypoxia score works in the clinic in a trial starting in December in patients with head and neck cancer.

“I have studied ways of measuring hypoxia in tumours for many years so this is a very exciting finding that could help us optimise how we use radiotherapy to get the best outcome for patients,” she declared.

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Pix: Prof. Cath West and Pro. Davies