In a new study, researchers have cracked a rare gene variant for a disorder that sees a normal healthy child start to lose muscle tone and motor skills, ultimately losing the capacity to walk and use language.
The children go on to experience epileptic encephalopathy and cycles of serious gastric disruption, including severe vomiting.
The condition has an onset between 12 and 14 months.
The research was conducted by a team of South Australian scientists.
In the study, the team used a genomics approach, where a patient’s entire DNA sequence is examined and identified the disease in just three infants worldwide, two of those in one South Australian family.
When they started working with this local family, the disorder the children presented with had never been described but since the research began there has been one more case identified.
The team discovered that the children carried genetic changes which meant they were unable to absorb vital B group vitamins, which are essential for normal development and function of the nervous system.
While the Adelaide family tragically lost one child to this disorder, with the cause now identified, the researchers were able to devise a targeted therapy to overcome the problem.
For the family’s second child, weekly injections of the B group vitamins in which he is deficient have been able to halt and even reverse some of the impacts of this devastating disease.
The team says rare diseases are actually a broad and significant area of genomics research.
Their goal is to develop genomic testing so that children can be diagnosed at or before birth and treatments can be delivered as early as possible.
The lead author of the study is the University of South Australia Ph.D. student Alicia Byrne.
The study is published in npj Genomic Medicine.
Copyright © 2019 Knowridge Science Report. All rights reserved.
