To effectively treat a disease or disorder, doctors must first know the root cause. Such is the case for developmental and epileptic encephalopathies (DEEs), whose root causes can be hugely complex and heterogeneous. Scientists at St.
St. Jude Children 's Research Hospital Aug 7 2024 To effectively treat a disease or disorder, doctors must first know the root cause. Such is the case for developmental and epileptic encephalopathies , whose root causes can be hugely complex and heterogeneous. Scientists at St.
The value of identifying rare genetic links to DEE Addressing the genetic root causes for DEEs has been a long-term goal for Mefford, who was instrumental in raising the number of diagnosable cases to 50%, up from approximately 5% just a decade ago. DNA methylation fingerprint offers solution Mefford is exploring epigenetics, the changes in gene expression that may or may not involve DNA alterations, as a potential solution. One such epigenetic change involves a process vital to gene expression called DNA methylation. This process is akin to a chef leaving notes beside a recipe instructing the reader to skip or repeat a step.
New technologies aid in rare methylation detection Exploring these rare methylation events across the genome using long-read DNA sequencing pointed the researchers toward DNA regions that are not commonly assessed, offering an answer to the cause of these cases.
Cancer Cell Children DNA DNA Methylation Encephalopathy Epilepsy Gene Gene Expression Genes Genome Hospital Medicine Molecular Biology Neurological Disease Neuroscience Research
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