Epigenetic Test Developed in UK Could Help Diagnose Genetic Disorders

According to the publication from the London Free Press, a new technique in development at Lawson Health Research Institute uses epigenetics to more closely study genetic expression in humans.

Epigenetics is a field of study concerned with the processes controlling the activation and deactivation of certain genes over time. Genes for cell growth that are active in your childhood might not be active during adulthood – due to an epigenetic change.

Much like genetic mutations associated with particular developmental disabilities and inherited disorders, certain epigenetic changes chemically “recorded” by the body could be used to diagnose medical conditions.

About the study

Some patients with suspected genetically-linked medical conditions can be diagnosed by checking certain genes of theirs for previously-identified mutations that have been linked to the suspected disorder.

However, by some estimates, “only about 25 to 30%” of these individuals receive a diagnosis – even after extensive screening. The remaining bulk of cases are suspected to be genetic, but evidence in the genome is elusive.

The epigenome is a sort of chain of proteins that can bind to chains DNA and turn certain genes on or off. The new technique being developed by Lawson Health Research Institute has shown for the first time that study of the epigenome could provide a new means of diagnosing genetic conditions that are undetectable through existing screening methods.

The technique allows scientists to parse through changes logged to the epigenome, searching for chemical signatures that could be associated with irregular gene expression. Currently, researchers are limited by the number of genes they can scan through at a time. The team hopes that in the future, a greater number of portions of the epigenome might be scanned at once, potentially shortening diagnostic times. Already researchers have used the technique to assist in the identification of developmental disabilities like fragile X, Angelman, and kabuki syndromes.

Dr. Mike Friez, Director of Diagnostic Laboratories for Greenwood Genetics Center in South Carolina, notes that the experimental screening procedure is useful, but not yet practical to offer to the average inquiring patient. One day, Friez hopes, expecting parents might be able to receive epigenetic screenings regularly.

Others’ hopes remain similarly high as new research into the field of epigenetics continues.


Screenings aren’t always as simple as getting a test and diagnosis – often times they fail to yield conclusive results themselves. Why do you think it’s important to develop new techniques to identify genetic disease? Share your thoughts with Patient Worthy!

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