New test for childhood genetic disorders 'transformational'

May 15, 2017

The gruelling 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.

Inborn errors of metabolism (IEMs) 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 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."

Explore further: New metabolomic screening method detects multiple inborn errors of metabolism in urine

Related Stories

New metabolomic screening method detects multiple inborn errors of metabolism in urine

November 3, 2016
Analysis of a single urine sample using a metabolomics-based screening approach can identify multiple different inborn errors of metabolism (IEMs), facilitating early disease detection and rapid initiation of treatment, as ...

Research study testing new treatment for Sanfilippo disease progressing well

January 31, 2017
A study into a new treatment for Sanfilippo disease, a rare and fatal condition which causes progressive dementia in children, is progressing well with results set to be published later this year.

New DNA test for diagnosing diseases linked to childhood blindness

August 21, 2014
Researchers in the United Kingdom have demonstrated that advanced DNA testing for congenital cataracts can quickly and accurately diagnose a number of rare diseases marked by childhood blindness, according to a study published ...

Proteins on the loose in a rare childhood disease

May 10, 2017
Australian scientists have shown, for the first time, that a family of untethered proteins builds up in the cells of children with a rare and serious genetic condition, known as mevalonate kinase deficiency (MKD).

New syndrome causing obesity and intellectual disability identified

February 3, 2016
Scientists at The University of Manchester have discovered a rare new genetic syndrome of obesity, over-eating, mental and behavioural problems in six families, from across the world.

First patient trials new treatment for rare inherited disease

August 12, 2014
Researchers at The University of Manchester and The Royal Manchester Children's Hospital have recruited the first child into a new study, which aims to evaluate the clinical effectiveness of a treatment developed in Manchester.

Recommended for you

New gene editing approach for alpha-1 antitrypsin deficiency shows promise

October 20, 2017
A new study by scientists at UMass Medical School shows that using a technique called "nuclease-free" gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased ...

Maternal diet may program child for disease risk, but better nutrition later can change that

October 20, 2017
Research has shown that a mother's diet during pregnancy, particularly one that is high-fat, may program her baby for future risk of certain diseases such as diabetes. A new study from nutrition researchers at the University ...

Researchers find evidence of DNA damage in veterans with Gulf War illness

October 19, 2017
Researchers say they have found the "first direct biological evidence" of damage in veterans with Gulf War illness to DNA within cellular structures that produce energy in the body.

Researchers drill down into gene behind frontotemporal lobar degeneration

October 19, 2017
Seven years ago, Penn Medicine researchers showed that mutations in the TMEM106B gene significantly increased a person's risk of frontotemporal lobar degeneration (FTLD), the second most common cause of dementia in those ...

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

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.