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. Fortunately, millions of human genomes are stored in biobanks and databanks all over the world and hundreds of international researchers with expertise in analyzing these datasets are eager to study the gene to disease links. Most importantly, perhaps, is the global research community coming together to collaborate in the effort to understand the genomic underpinnings of the susceptibility to COVID-19 infection.

In this month’s podcast, Genetics in Medicine reached out to members of the genetics research community involved in the global initiatives to identify the genes that cause differences in susceptibility and outcomes to COVID-19: Mark Daly, PhD, director for the Institute of Molecular Medicine Finland and a member of the Broad Institute in Massachusetts, Kári Stefánsson, MD, founder and CEO of deCODE, and our own Deputy Editor, David T. Miller, MD, PhD, a medical geneticist at Boston Children’s Hospital. Together, these three discuss key methods involved in conducting genome-wide studies on a global level to understand differences in SARS-CoV-2 infection rate and severity. The hope is, these efforts will be vital for providing clues to pathways of viral infection and ultimately development of therapeutics and vaccines.

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 this episode, we meet Early Career Investigator, Dr John Hutton, from Cincinnati Children's Hospital Medical Centre, who has created a composite measure of these variables, reflecting current modes of screen-based media use. Have a listen!

Related Article -

https://www.nature.com/articles/s41390-020-0765-1

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 generation, both of which grew up with increased access to and use of social networking sites. As a result, some have drawn the conclusion that perhaps the two are linked, and the rise in mental health issues is linked causally to the increase in time spent online, and so treatment should involve reducing social networking use. Dr. Kiara Timpano, associate professor at the University of Miami department of psychology, and Dr. Courtney Beard, co-director of the clinical research program in behavioral health at McLean Hospital and associate professor of psychiatry at Harvard Medical School, reviewed the literature.

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 sensitive assay for hair cortisol concentrations. He and his team took hair samples from children aged 1-4 years in order to uncover psychosocial and demographic factors associated with this measure of physiological stress. Have a listen! Related Article: https://www.nature.com/articles/s41390-019-0691-2

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 month’s GenePod, Dr. Diana Baralle, a professor of genomic medicine at the University of Southampton, and a clinician and clinical geneticist at the University Hospital Southampton NHS Foundation Trust, discusses a recent article published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG) that shows, on a larger scale, how VUS were evaluated using RNA functional studies increasing clinical diagnostic rate and resolving VUS.

Article https://doi.org/10.1038/s41436-020-0766-9

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 of Oxford) as he discusses his resent research on silvereyes, and stick around for some views on LGBTQ+ communities in STEM at the end.

A Genetics Society Heredity Fieldwork Grant supported Ash’s research, find out more about the scheme here: https://genetics.org.uk/grants/heredity-fieldwork-grant/

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 diversification in the splash-backed poison frog, Adelphobates galactonotus.

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, SLC35A CDG patients often suffer from severe epilepsy, liver dysfunction and decreased coagulation among other symptoms. Tune in to this month’s GenePod to hear Dr. Eva Morava, a professor of medical genetics at the Mayo Clinic, discuss how moonlighting enzymes and metabolic adaptation from a galactose supplement benefited patients in a small pilot study published in Genetics in Medicine.

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!