Tag Archive: mutations

Feb 12 2019

Informatics Driven Clinical Genomics: Q&A With Mahdi Sarmady, PhD

Scientists are driving new discoveries about the role of genetic variation in specific human disorders at an exciting and unprecedented pace, and physicians are increasingly incorporating genetic tests into pediatric clinics as a diagnostic tool. But with high-throughput sequencing methods continuously yielding floods of new information, how can clinicians keep up with updated data for patients who have already received genetic test results?

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Jun 30 2015

Researchers Pinpoint Mutations in Relapsed Neuroblastoma

neuroblastomaAn international collaboration of researchers has identified several progressive series of mutations that occur in tumor cells responsible for aggressive subsets of neuroblastoma that relapse after chemotherapy.

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Nov 5 2014

Collaborative International Study Finds Childhood Epilepsy Genes

childhood epilepsyAn international team of researchers recently identified gene mutations that can cause severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.

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