Springer Nature

Despite all the tools available for the clinical diagnosis of neurodevelopmental disorders, about half remain undiagnosed”, states Dr. Stefan Rentas, first author of a recently published article in GIM. For many patients with neurodevelopmental disorders, a genetic diagnosis doesn't come easy. Genetic testing often comes back negative, even when a Mendelian disorder is very likely, leaving more than half of patients undiagnosed. One explanation is that researchers simply haven't found all the variants that can cause a disorder, but the disorder could also be caused by non-coding regions of the genome that aren't examined with current techniques. That's why Dr. Rentas and his colleagues at the Children's Hospital of Philadelphia turned to RNA sequencing. By looking at gene expression through RNA sequencing, instead of just the genes themselves, abnormalities in the functional output of those genes can be discovered. In this month’s GenePod, host Cynthia Graber chats with Dr. Rentas about how his team successfully diagnosed several of these patients through RNA sequencing, and what a genetic diagnosis really means.

Related article link:

https://www.nature.com/articles/s41436-019-0741-5

When a variant of unknown significance (VUS) shows up in a genetic test, it's frustrating. Without clinical data backing the pathogenicity of a variant, it is difficult to advise patients. As genetic screening increases, more VUS crop up, and become even harder to classify due to an expanding pool of clinical characteristics of patients. For BRCA1/BRCA2 testing, VUS occur in 2-4% of cases, and the number of VUS that have been identified is roughly equal to the number of pathogenic variants. In a recent publication in GIM, Dr. David Goldgar and his team expanded on their work studying VUS in BRCA1/BRCA2 using clinical genetic tests in 138,000 individuals undergoing genetic testing for hereditary cancer. On this month's GenePod, Dr. Goldgar discusses their new model for predicting pathogenicity of BRCA1/BRCA2 VUS using family history, and the value of grouping similar VUS, rather than studying them individually.

Related article link:

https://www.nature.com/articles/s41436-019-0729-1

Every winter population geneticists gather for the Population Genetics Group Meeting. This year, the 53rd meeting took place at the University of Leicester, and with the help of Michael Pointer, a PhD student at the University of East Anglia, we are going to bring you the highlights! From world-renowned researchers to rising stars, settle in and listen to the best of PopGroup 53!

In episode two of our editorial series, we meet Dr Marc Stift (University of Konstanz). A plant evolutionary geneticist with three years under his belt at Heredity, Marc has also authored five papers in the journal (so far). This gives him valuable perspectives from both sides of the process. What has he learnt? What tips can he give for writing a successful manuscript? And what makes him scientifically tick? Tune in to find out.

Associated articles: Sibling competition does not magnify inbreeding depression in North American Arabidopsis lyrata

https://www.nature.com/articles/s41437-019-0268-1

STRUCTURE is more robust than other clustering methods in simulated mixed-ploidy populations

https://www.nature.com/articles/s41437-019-0247-6

Charles Darwin described it as the most complex mating system in the natural world. Famed statistician Ronald Fisher was fascinated by it. And this episode’s interviewees braved 40 °C heat and caimans to unravel some of its mysteries. What is it? Tristyly — a rare and mysterious plant mating system. Tune in to hear what Dr Nicolay Cunha and Prof. Spencer Barrett learnt about this system from the pickerel weeds of Brazil’s Pantanal.

Associated article: Architectural constraints, male fertility variation and biased floral morph ratios in tristylous populations

https://www.nature.com/articles/s41437-019-0237-8

Behind the pages of Heredity there lies a group of incredibly dedicated, brilliant scientists—our editors! Who are they? What do they actually do? What kinds of research are they passionate about? What are they looking for in a good manuscript? These are the kinds of questions we are going to explore in a new series of episodes dedicated to these unsung heroes of scientific publishing. First up, we have Dr Alison Bentley, a crop specialist who leads a +40 group of researchers as Head of Genetics and Breeding at NIAB (National Institute of Agricultural Botany).

Medical Simulation is a powerful model for pediatric education. This type of experiential training is used to teach various skills including stressful medical tasks like resuscitation, without putting patients at risk.

In order to better understand the behaviour of healthcare providers during these situations, researchers have started to use eye-tracking technology.

In this episode, we meet Early Career Investigator, Michael Wagner from the Medical University of Vienna, who during a fellowship at the Yale University, carried out a simulation-based study using eye-tracking glasses to explore the gaze behaviour and subjective experience of care-givers during a neonatal resuscitation to assess the usability of this technology for training.

Related article:

https://www.nature.com/articles/s41390-019-0571-9

The sound produced by the vocal tract of a 3,000 year-old Egyptian mummy has been synthesized using CT scans, 3D printing and an electronic larynx. The findings are presented in a study published in Scientific Reports. Read the paper here: https://go.nature.com/2TUueZ4

Clinical studies have shown that newborns can experience up to 14 painful procedures each day of admission at the neonatal intensive care unit. There is evidence that these early experiences can cause changes to the developing nervous system affecting, amongst other things, nociception in adulthood. Preterm infants are at particular risk from repeated noxious procedures owing to the extensive developmental and functional changes taking place in the CNS at that time. In this episode, we meet Dr. Nynke van den Hoogen, who during her time at Maastricht University, used an animal model to assess whether the number of neonatal noxious events has an affect on acute and long-term mechanical sensitivity.

Related article: https://www.nature.com/articles/s41390-019-0420-x

In this episode we explore the nature vs. nurture debate in one of humanities closest companions – Dogs! Why do they do the things they do? Are their behaviours hardwired into their DNA? Tune in and listen to Dr Juliane Friedrich, Dr Pamela Wiener and Dr Marie Haskell as they discuss complex genetic behaviour traits in German shepherd dogs, collaborating with the Swedish Armed Forces, and how their research has shaped the way they view their own pets behaviour.

Associated article:

https://www.nature.com/articles/s41437-019-0275-2