2023-04-17 15:35:26
While rare diseases are individually rare, collectively they are quite common. In children, diagnosis is all the more important as it allows faster access to treatment and thus limits the impact of the disease on their lives.
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Nearly 5,500 children with rare genetic conditions have just been diagnosed in the UK and Ireland, as part of the massive genome sequencing study Deciphering Developmental Disorders. A total of 13,500 families (one or more of whom have a severe developmental disability) helped identify 60 new genetic diseasesgenetic diseasesfollowing analysis of more than 800 GenoaGenoa different from children and their parents. The genetic diseases found were not necessarily hereditary, since regarding three quarters of the conditions were caused by spontaneous mutations not inherited from either parent.
Improve care and quality of life
Researchers used high-tech methods to classify genetic variants and establish a diagnosticdiagnostic in approximately 41% of patients. The goal ? Improving the diagnosis of rare diseases worldwide. ” Most of these diseases are genetic and can be diagnosed using the same genomic sequencing technology. The families who participated in our study were desperate for answers, which can make a huge difference in clinical management and quality of life. », said Caroline WrightWrightprofessor of genomic medicine at the University of Exeter (England) and co-author of the study published in the New England Journal of Medicine.
In addition, diagnosing rare pediatric diseases makes it possible to bring the families concerned together in support networks, and thus limit their isolation.
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