Trainee

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

Nascent Transcript Writer: Sumantra Chatterjee, PhD Large scale exome and whole genome sequencing have led to cataloging vast arrays of disease-associated genes and variants for various multifactorial disorders, yet the underlying biology for most of these has been difficult to unravel, leading to diagnostic uncertainty. This has been partly due to our incomplete knowledge of... Read More