A latest study by Murdoch Children’s Research Institute (MCRI) in collaboration with Lineagen, Inc., has introduced a new diagnostic genetic testing and clinical information services company in Utah. The Murdoch Children’s Research Institute (MCRI) is a major child health research institute based in Australia. It aims to find treatments that improve the health of children and adolescents, all around the world. Currently, it is one of the very few research institutes in Australia that offer genetic testing to diagnose previously undiagnosed conditions
The study results are published in “Scientific Reports” in the journal “Nature” that explains a new diagnostic test for autism. It is to diagnose fragile X syndrome in suspected patients, which is one of the most common genetic causes of this disorder.
The fragile X hits approximately 1 in 4,000 children. It can even show up in newborns of the mothers who themselves don’t have Fragile X syndrome. It means that they have a hidden DNA ‘premutation’ in their FMR1 gene, which is transmitted to their babies.
Typically, it is not possible to identify Fragile X in younger years because it has no clinically distinct signs. The average diagnosis of it takes place in at least five years old kids in Australia and three years old kids in the US, as per CDC. This delay in diagnosis causes a further wait in getting the required medical care. Often the families end up having more than one autistic kid before receiving the treatment for their firstborn.
The researcher from this study David Godler is an Associate Professor at MCRI. He says that if carrier parents of this permutation are aware of possible health risks of their kids, they can have timely advice regarding alternative reproductive options. That’s how this new test called Methylation Specific Quantitative Melt Analysis (MS-QMA) would be a great help for families. This is a simple, one-step process that is accurate and diagnoses the Fragile X syndrome in affected children via genetic testing.
It uses chemical marks “methylation” on the patient’s FMR1 gene in Fragile X suspect. This gene is not present in children that don’t have Fragile X syndrome. While increasing these marks, the production a FMRP- a protein that helps in a healthy brain development and function- is reduced which in turn causes autism. This experiment used 300 study patients and all the testing was carried out in Godler’s laboratory at MCRI.
CEO of Lineagen, Dr. Michael Paul shares that even after all standard genetic tests, more than half affected children aren’t diagnosed correctly. So anything that improves this genetic diagnostic is much need for the young patient and his family. Lineagen works to provide the most accurate, high-quality genetic diagnoses of pediatric neurodevelopmental disorders such as autism spectrum disorder (ASD).
The researchers from “Lineagen Inc”, Utah, the “University of Melbourne”, “Victorian Clinical Genetics Services”, “Genetics of Learning Disability in Newcastle”, and “The Royal Children’s Hospital” all have contributed to these study findings.