Springer Nature

The arms race between the highly toxic rough-skinned newts of North America and the garter snakes that prey upon them is a literal textbook example of evolution in action. However, it appears that a piece of the genetic puzzle underpinning this interaction has been overlooked, until now. In this episode, PhD candidate Kerry Gendreau (Virginia Tech) and Dr Michael Hague (University of Montana) disc...

40% of infants with hypoxic ischemic encephalopathy (HIE) go on to develop long-term disability, despite receiving therapeutic hypothermia. Mounting evidence suggests that children with HIE are at a higher risk of both hypoglycemia and hyperglycemia, which may explain the variable outcomes to therapeutic hypothermia. In this episode, we meet this month's featured Early Career Investigator Dr. Paol...

The COVID-19 pandemic is unprecedented and clinicians have faced correspondingly unprecedented challenges in caring for patients in genetics and metabolic disease clinics who require routine check-ups and ongoing treatments. Yet, in overcoming these challenges, doctors have identified a few boons to patient care that may continue to benefit patients in the long run. Listen in to this month’s GeneP...

There is a growing body of evidence to suggest that insufficient sleep can have detrimental effects on school-age children's cognitive, emotional and behavioural regulation. But there remains a lack of objectively measured data on the stability and prevalence of insufficient sleep. In this episode, we meet Bror Ranum who is currently doing his PhD at the Norwegian University of Science and Technol...

Chimpanzees are humanities closest cousins, and they’re close to disappearing. In this episode we hear from Peter Frandsen (Copenhagen Zoo, University of Copenhagen) and Claudia Fontsere (Barcelona Biomedical Research Park), who are developing new genetic tools to aid in the conservation of this iconic species. Associated article: Targeted conservation genetics of the endangered chimpanzee - https...

What impact does the initial size of a population have on an organism’s ability to adapt to its environment? In this episode we investigate this question with Dr Yashraj Chavhan and Prof. Sutirth Dey from the Indian Institute of Science Education and Research (IISER) in Pune, India. Their results hold important insights for many aspects of population genetics. Associated article: Larger bacterial...

The world is currently gripped by COVID-19, but could an often overlooked population genetic theory hold one of the keys to defeating it? In this episode we speak to Prof. Michael Lynch (Arizona State University) about a recent Comment he penned with Prof. Jeffrey Jensen, where they consider mutational meltdown as a potential SARS-CoV-2 treatment strategy. Associated article: Considering mutationa...

During the COVID-19 pandemic, one of the challenges doctors are facing is the unpredictable course of the disease in different people infected with SARS-CoV-2. Some people have no symptoms, others have a flu-like illness, while others develop sometimes fatal respiratory or other organ failure. There is a growing understanding that genetics plays a role in determining the severity of illness. Fortu...

Young children face unprecedented access to screens in the modern environment. It was recently estimated that children between the ages of 3-8 get almost 3 hours of screen use a day. The American Academy of Pediatrics (AAP) have recommendations for screen-based media use which focus on four variables: access to screens, frequency of use, content and grownup-child interaction, or “co-viewing". In t...

Over the past decades, there’s clearly been a dramatic increase in the amount of time people spend online using social networking sites. For instance, Facebook and Instagram have literally billions of users. At the same time, there’s been a rise in mental health issues for young people from teens through their mid 20s. The rise in these issues has been seen particularly for Millenials and the I ge...

There is a growing body of evidence to suggest that early life stress can have detrimental effects on a child's physical and mental health. Hair cortisol concentrations are increasingly accepted as a cumulative measure of stressful experiences but they are understudied in preschool children. In this episode, we meet Professor Sunny Anand from Stanford University School of Medicine who developed a...

RNA analysis can be an important addition to genetic sequencing in order to improve clinical care and to best understand variants. As clinicians use genomic testing more, the number of identified variants has also ballooned. But, for many variants, it is unknown whether they are pathogenic. The large number of variants of uncertain significance (VUS) can hinder or slow down a diagnosis. On this mo...

French Polynesia is a South Pacific paradise, and thanks to an eccentric aviculturist it is also host to an interesting evolutionary experiment. In 1937, Eastham Guild released silvereye birds on Tahiti, from where they dispersed to other islands. Now they form the perfect system for testing the roles of drift and selection in rapid morphological divergence. Join Ashley Sendell-Price (University o...

In episode four of our editorial series we meet Dr Giorgio Bertorelle from the University of Ferrara, Italy. An animal population and conservation geneticist, Giorgio is fascinated by the impact human activities have on the evolution of animal genomes.

Poison dart frogs are an iconic group of tropical animals. But how and when did their spectacular warning colourations evolve? And are they really a signal to predators? In this episode we explore these questions with Diana Rojas and Adam Stow, as they discuss their recent forays into the depths of both Amazonia and modern molecular methods to unravel the evolutionary history of colour diversifica...

A group of more than 130 disorders share a common problem: a glycosylation issue in development where the necessary sugar chains are fully or partly missing from their needed location on protein surfaces. Patients with one of the congenital disorders of glycosylation (CDG) called SLC35A2 CDG are missing galactose, the sugar in milk, on their proteins. Without this sugar chain building block, SLC35...

In this episode, we meet Early Career Investigator, Dr Anna Tottman who during her time at the University of Aukland, Liggins Institute performed a retrospective cohort study looking at the relationship between neonatal nutrition and neurodevelopmental outcomes. Her research suggests that nutrition for preterm infants may need to be sex-specific. Take a listen!

Preterm infants regularly need Packed red blood cell transfusions. This life-saving therapy can help prevent anaemia of prematurity and in turn, safeguard normal organ function. However, there is a risk that donor blood contains the heavy metals mercury (Hg), lead (Pb) and Cadmium (Cd) which are known developmental neurotoxicants and may be present in neurotoxic doses. In this episode we meet Alis...

Is more better? As the cost of genetic testing plummets, allowing more people to get testing of more genes, researchers and clinicians are asking: who should get tested, and for what? One recent study suggested that all breast cancer patients should get genetic testing. But does the evidence support this approach? In a recent ACMG statement published in Genetics in Medicine (GIM), the statement’s...

A number of drugs that are used recreationally are now being studied for their use in psychopharmacology. But while the ways in which these drugs are similar or different has been described anecdotally by recreational users, they haven’t been studied in comparison to one another. Dr. Matthias Liechti and his team of researchers recently published a study in the journal Neuropsychopharmacology, in...

It’s known that there’s a relationship between post-traumatic stress disorder, or PTSD, and a higher rate of opioid abuse. What isn’t understood, though, is what that relationship is. Does PTSD cause people to turn to opioids in particular among all the potential drugs of abuse, or is there something about opioid use that makes users particularly sensitive to trauma? This is just what Michael Fans...

In episode three of our editorial series we meet forest engineer turned plant geneticist Prof. Dario Grattapaglia. A highly experienced researcher and editor, Dario brings a unique and heavily applied focus to his work. His story and views on publishing are sure to inspire many!

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 th...

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...

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!