New Recommendations for Prenatal Genetic Testing

By: David Shifrin, PhD Life Science Consultant and Freelance Writer The European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG) have released new recommendations for prenatal testing. At the center of the discussion and recommendations is the use of non-invasive prenatal testing (NIPT) as a complement or alternative to procedures… Read More New Recommendations for Prenatal Genetic Testing

New candidate gene for infantile epilepsies: Or is it?

By: David Shifrin, PhD Life Science Consultant and Freelance Writer Among the many forms of epilepsy known to clinicians, benign focal epilepsies of childhood are, perhaps, one of the “better” categories. While seizures may be common, they generally do not cause significant long-term damage and are not associated with neurodevelopmental deficits. Additionally, as the name… Read More New candidate gene for infantile epilepsies: Or is it?

Sequencing Copy Number Variants for Insight into Disease

By: David Shifrin, PhD Life Science Consultant and Freelance Writer In 2010, the Wellcome Trust Case Control Consortium published a paper in Nature that examined almost 3,500 common copy number variants (CNVs) from 18,000 individuals. The goal was to determine whether these CNVs were associated with any of eight common diseases such as bipolar disorder,… Read More Sequencing Copy Number Variants for Insight into Disease