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10-year British study reveals the causes of 5,500 rare genetic diseases

2023-04-26 13:45:46Lifestyle SHKRUAR NGA REDAKSIA VOX
10-year British study reveals the causes of 5,500 rare genetic diseases
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A British study included more than 13,500 families with children suffering from severe developmental disorders in a genetic study, helping 5,500 of them to give a name to their pathology.

The study, which lasted more than ten years and was carried out on patients from the United Kingdom and Ireland, sequenced the participants' genomes to discover the genetic causes of their diseases: "Having an accurate diagnosis is essential for families

in which one member suffers from a rare disease" , underlines Caroline Wright, coordinator of the study, the results of which were published in The New England Journal of Medicine.

Giving a disease a name can make a significant difference in accessing specific treatments and improving quality of life. About a quarter of the children and adolescents included in the study changed their treatment after having a correct diagnosis. The genomic analysis revealed the correct diagnosis for 5,500 people, finding genetic disorders involving more than 800 different genes, 60 of which are linked to developmental disorders identified for the first time by the study.

Three quarters of the detected pathologies were caused by spontaneous mutations not inherited from the parents.
"Using the latest technologies allows a better and more accurate diagnosis of rare genetic disorders, so that affected children have access to the necessary treatments as soon as possible, potentially limiting the impact of the disease on their lives. " , underlines Will Quince, the British Minister of Health.

The study also had the advantage of linking families whose children have the same rare condition, such as that of Jessica Fisher, whose son Mungo was diagnosed in 2015 with Turnpenny-Fry syndrome, a disease that causes the ability to learning disabilities, growth problems, and special facial features. Jessica was put in touch with another Australian family and then created a Facebook group that now has 36 members from around the world, all with children with the same pathology.


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