Springer Nature

Depression is an incredibly important disorder—according to Thomas Schlaepfer, head of the department of interventional biological psychiatry at the University of Freiburg, at least 20 percent of people have a depressive episode at least once in their lives. And while most patients’ symptoms improve with a combination of psychotherapy and medicine, up to 20 percent of depressed patients do not improve from existing treatments. Dr. Schlaepfer and his colleagues have been conducting research on deep brain stimulation, in which implanted electrodes automatically deliver electrical impulses to a particular region of the brain. Have a listen to learn more!

Related link:

https://www.nature.com/articles/s41386-019-0369-9

Nearly a third of neurodevelopmental disorders are thought to have a genetic basis and the most recent ACMG guidelines, from 2010, recommend Chromosomal Microarray (CMA) and fragile X testing as first tier genetic tests. In a recent study published in GIM, Srivastava et al carried out a meta-analysis of 30 papers published since those guidelines were issued and determined exome sequencing had a significantly higher diagnostic yield than these previous testing standards. In this month’s GenePod, Cynthia Graber talks to Mustafa Sahin, senior author of the study, about the authors’ hopes that the increased diagnostic yield will lead to exome sequencing being more widely accepted as the first line testing. The authors are also hopeful that having a molecular diagnosis might result in potentially actionable treatments for some patients. Click for related article:

https://www.nature.com/articles/s41436-019-0554-6

Almost 10% of newborn infants develop significant hyperbilirubinemia, and many require phototherapy treatment. This is costly and can increase the likelihood of patients developing allergic diseases. However the costs of not treating neonatal jaundice can be more severe as it can cause lifelong disability. Precise patient monitoring and deliberate treatment assignment are therefore essential for at-risk neonates. In this episode, we meet Sven Wellman, then of the University of Basel's Children Hospital in Switzerland. He and his team developed an online tool that uses machine learning methods to accurately predict neonates at risk of developing clinically relevant hyperbilirubinemia.

Related article:

https://www.nature.com/articles/s41390-019-0384-x

Why do the tropics contain such a diversity of life? In this episode, we explore this question with Matt Orton and Prof. Sarah Adamowicz from the University of Guelph. Listen to them discuss their recent research paper – Is molecular evolution faster in the tropics? – and hear about the challenge it poses to the long standing Evolutionary Speed Hypothesis.

Associated article: Is molecular evolution faster in the tropics?

https://www.nature.com/articles/s41437-018-0141-7

In this episode we explore the genetic structuring of orchids in the cloud rainforests of Ecuador. While we mainly think of orchids as ornamental houseplants, many wild species are vulnerable to poaching or deforestation. In a recent Heredity paper, Professor José Iriondo (King Juan Carlos University, Madrid) and colleagues investigated the fine-scale genetic structure of an unassuming orchid in a regenerating patch of Ecuadorian rainforest—working in a landscape unlike any other, they have discovered a mysterious population dynamic that so far eludes explanation, but does highlight vital conservation considerations for this iconic family of flowering plants.

Associated article -

Complex fine-scale spatial genetic structure in Epidendrum rhopalostele: an epiphytic orchid

https://www.nature.com/articles/s41437-018-0139-1

From the days of Darwin and Mendel, studies on colouration have played a vital role in deciphering the mechanisms of natural selection and genetic heredity. While this work has encompassed many species from all branches of the tree of life, a particularly noteworthy one is the incredibly colour diverse grove snail, Cepaea nemoralis. In this special double-whammy episode, we discuss two recent Heredity papers on this unassuming, yet beautiful, little mollusc by Dr Angus Davison (University of Nottingham) and colleagues. The first takes a quantitative approach to determining the colour phenotypes of over 1000 grove snails, while the second investigates the underlying genetics of this colour polymorphism. The insights gleaned from these studies have important implications for how we conduct studies on animal colouration, and also challenge long held assumptions about the evolution and role of supergenes.

Related articles;

Discrete or indiscrete? Redefining the colour polymorphism of the land snail Cepaea nemoralis

https://www.nature.com/articles/s41437-019-0189-z

Recombination within the Cepaea nemoralis supergene is confounded by incomplete penetrance and epistasis

https://www.nature.com/articles/s41437-019-0190-6

Direct-to-consumer genetic/genomic testing is rising in popularity and at the same time research shows medical genetic testing targeting only at-risk populations might miss people who can benefit from testing. In a recent study published in GIM, researchers considered the pros and cons of offering genomic screening to all young adults in a single-payer healthcare system. They found the screening was highly cost-effective and would reduce cancer deaths by more than 30 percent. There are many caveats to implementation of such an approach, however. In June's GenePod, host Cynthia Graber talks with study author Dr. Paul Lacaze about the research and the ethical implications of offering population-wide genomic screening.

Related article:

https://www.nature.com/articles/s41436-019-0457-6

In vivo textural and morphometric analysis of placental development in healthy & growth-restricted pregnancies using magnetic resonance imaging

Placental dysfunction is a leading cause of morbidity and mortality in children. Yet, despite its central importance, there is a lack of tools to assess in vivo placental health. Ex vivo evaluation of placentas has shown there to be micro-architectural changes with fetal growth restriction (FGR), but currently there are no tools to assess this before birth. In this episode, we speak with this month's Early Career Investigator- Prof. Nickie Andescavage from George Washington University, who recently performed an advanced textural and morphometric of Magnetic Resonance images of the in vivo placenta in healthy and high-risk pregnancies.

Article link:

https://www.nature.com/articles/s41390-019-0311-1

Research has demonstrated that, overall, women are more vulnerable to drug addiction than men are. They become addicted more quickly after first using, they have a harder time staying off drugs, and they relapse at higher rates. But most studies have focused on men, and models that have been developed nearly entirely focus on male subjects. Now, two things are changing the situation: scientists are realizing that women's experience and women's brains are different when it comes to addiction, and the NIH has mandated that tests involve female subjects as well. Erin Calipari is assistant professor of pharmacology at the Vanderbilt University School of Medicine, and she's one of the authors of a new paper in the journal Neuropsychopharmacology. In it, she and her colleagues create a new model for examining the differences between female and male rodents when it comes to drug addiction.

Related article -

https://www.nature.com/articles/s41386-019-0320-0

In a recent study published in GIM, researchers assessed an expanded non-invasive prenatal screening test on 94,000 women and found the predictive value for DiGeorge Syndrome was higher than that of current screens. In this month’s episode of GIM’s GenePod podcast, host Cynthia Graber talks with study author Dr. Deshang Liang about how the new screen might improve upon current widely available screening tests by having a higher detection rate of clinically significant fetal chromosome abnormalities. They also discuss how the implementation of expanded screening could stretch genetic counseling resources and touch on other potential concerns.

Related article:

https://www.nature.com/articles/s41436-019-0467-4