Trainee

Author: Iris Nira Smith, PhD Postdoctoral Fellow Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Smith IN, et al. Conformational dynamics and allosteric regulation landscapes of germline PTEN mutations associated with autism compared to those associated with cancer. 2019 American Journal of Human Genetics. May 2;104(5):861-878\ Why do mutations in the same gene sometimes lead... Read More

Nascent Transcript Author: Anna Miller A recent decision by the pharmaceutical company Novartis to provide 100 free gene therapy treatments for spinal muscular atrophy (SMA), a debilitating yet rare genetic condition, to patients selected through a lottery program has sparked debate about the ethical implications. SMA is a rare autosomal recessive genetic disorder caused by... Read More

Nascent Transcript Author: Nicole Ferraro Direct-to-consumer (DTC) genetic testing has allowed millions to directly interact with their genetic data and test results. This presents largely uncharted avenues in which our work as geneticists interacts with the public. A recent example involved a genome-wide association study1 that produced a polygenic risk score explaining <1% of variance... Read More

Nascent Transcript Writer: Jeff Calhoun Due to the reduced cost of next-generation sequencing and the demonstrated utility of genetic diagnoses, more and more individuals are having their genes, exomes, and even genomes sequenced in a clinical setting. This testing ranges widely from gene panels to identify cancer subtypes, to array Comparative Genomic Hybridization to identify... Read More

Nascent Transcript Writer: Jennifer Zieba, PhD So, you’ve accepted your first PostDoc. After years of grueling PhD work, you are now considered a professional in the field, you’re brimming with confidence after successfully defending your thesis, and you’re eager to make your mark on the scientific community. However, the transition into a postdoc can be... Read More