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Scientists warn of rare and incurable genetic disease that threatens the lives of thousands of children around the world

TUBB4a is defined as an incurable genetic condition that damages the central nervous system and can be fatal to infants and young children.

TUBB4a is a lack of white matter with atrophy in basal nodes and mitoral, a common type of white matter induction disease.

 

Initially, scientists believed the disease affects only 200 people worldwide. However, recent research suggests that this figure may be much higher than previously thought.

 

According to Cleveland Clinic in the United States, white matter dystophy affects 1 in 7,663 births. With about 140 million babies born globally in 2021, that means more than 18,000 babies may have white matter dystophy, and about 1,650 with TUBB4a, last year alone.

 

Dr Dan Williams, CEO and co-founder of biotech firm SynaptixBio, which aims to develop the world’s first treatment for this debilitating disease, said the actual number of TUBB4a patients could be even higher. “One of the main problems diagnosing a condition like TUBB4a is that it’s very difficult to detect. It takes intensive genome sequencing and MRI scans to correctly identify it. It can also appear similar to other more common conditions, such as cerebral palsy or multiple sclerosis. Unfortunately, it’s easy to see how the signs can be missed.”

TUBB4a was first identified in 2014 and currently makes up 9% of a group of about 50 rare neurorefracting disorders known as white matter ingus.

 

Dr Williams added: “It is essential that our understanding of the disease improves rapidly. While it is still a relatively rare case, it is clear that there is a greater need to find a cure than preliminary estimates might think.”

 

The condition is caused by a mutation in the TUBB4a gene, as it disrupts signals that are transmitted between neurons in the brain.

 

This neurological disorder can cause patients to have difficulties walking, sitting and swallowing. They can also develop seizures, muscle contractions, hearing and speech difficulties, and uncontrollable limb movements.

 

Dr Michel Teng, co-founder and head of science at SynaptixBio, who diagnosed her 11-year-old daughter Sophia, acutely from TUBB4a known as H-ABC, called for greater access to diagnostic tests for potential patients.

 

The SynaptixBio Foundation, launched last year, is currently working on a promising treatment that will hopefully make a “revolution” in how TUBB4a white matter is treated.

Scientists also hope that antinucleotide therapy (ASOs), previously used to treat conditions such as dystrophy and spinal muscular atrophy, will significantly improve the quality and prolong the lives of white matter dystrophy patients.

 

Dr Willams explained that the treatment has the potential to “modify the disease, increase survival rates and significantly improve motor skills development”.

 

He added: “The new approach offers the potential to stabilize, improve quality of life and prolong the average life expectancy of children with the condition. Successful prevention of the development of white matter dystocytosis will be a revolutionary life-saving and life-riching treatment for children around the world.”

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