07.11.2025 05:06
The Bellvitge Biomedical Research Institute in Barcelona, Spain, has announced the discovery of a new neurological disease that has been identified in only 13 cases worldwide. This disease, resulting from gene mutations, reportedly affects the brain's white matter, leading to walking and cognitive issues.
The Bellvitge Biomedical Research Institute (Idibell) in Barcelona, Spain, announced the discovery of a new and very rare neurological disease that has only been identified in 13 cases worldwide so far.
The scientific community has discovered a new neurological disease that has only been identified in 13 cases to date. Details about the disease were published in the American Journal of Human Genetics.
ONLY 13 CASES IDENTIFIED
The article published in the American Journal of Human Genetics reported that an international team led by scientists at the Bellvitge Biomedical Research Institute (Idibell) in Barcelona, Spain, has discovered a new and very rare neurological disease caused by mutations in a gene, currently identified in 13 individuals worldwide.
"IT AFFECTS THE BRAIN'S WHITE MATTER"
The article noted that this discovery was made possible through the application of genome sequencing, which determines the nucleotide base sequence of an organism's entire DNA, and new genomic tools and computational algorithms developed by the Idibell team to understand the causes of genetic diseases and produce solutions.
Speaking to the EFE news agency, Aurora Pujol, Director of the Neuro-Metabolism Department at Idibell University, stated, "This is a type of disease that affects the brain's white matter, and these patients experience issues with walking, cognitive, developmental, or facial dysmorphia."
"THERE IS A LONG WAY AHEAD FOR SCIENTISTS TO FIND A TREATMENT"
Pujol mentioned that with the classification of the disease, the number of cases worldwide is likely to increase in the coming years, and although the identification of the disease is an important step in improving diagnosis, there is still a long way ahead for scientists to find a treatment.
The Spanish doctor explained, "Diagnosis is the first step, and it is comforting for families to finally have a name for their disease. This way, they can connect with other families and support each other and their doctors by joining patient associations. Ultimately, this is a team effort."
On the other hand, it was shared that the international team includes scientists from Turkey, the USA, Italy, Germany, England, Iran, Finland, Estonia, and Pakistan, in addition to Spain.