Skip to main content
Premium Trial:

Request an Annual Quote

Exome Sequencing Has Clinical Implications for Some Unexplained Pediatric Epilepsy Cases

Exome sequencing can yield diagnoses that clinical ramifications among children with unexplained epilepsy, according to a paper published in JAMA Network Open. A Boston Children's Hospital-led team sequenced the exomes of 522 pediatric patients who presented with unexplained epilepsy and their available parents. Through this, they uncovered genetic diagnoses for 100, or about 19 percent, of patients. Diagnoses were more common among patients with intellectual disability, early-onset seizures, or motor impairment. Data to gauge clinical utility was available for 71 of the patients who received a genetic diagnosis, and, of those, 29 had a change in disease treatment, management, or prognosis, such as a change in medication or diet. "Beyond clinical utility, we noted anecdotally that several families expressed reduced guilt or shame after genetic diagnosis, relief at the end of a diagnostic odyssey that in some cases had lasted several years, and hope for still undiagnosed families that answers were still being explored through research," they add.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.