Springer Nature

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 GenePod to hear how Dr. Nicola Brunetti-Pierri, a clinician at the Federico II University Hospital in Naples, Italy, and Dr. Elaine Pereira, a clinical geneticist at Columbia University in New York City, two of the areas hardest hit by the pandemic, adapted patient care amid government lock-downs and what silver linings they found.

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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 Technology. He was involved in a large prospective study of almost 800 children between the ages of 6-12 years to objectively measure the prevalence and stability of insufficient sleep using actigraphy. The results suggest the importance of measuring the number of nights of insufficient sleep as opposed to only taking an average measure over a week.

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://www.nature.com/articles/s41437-020-0313-0

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 populations evolve heavier fitness trade-offs and undergo greater ecological specialization - https://www.nature.com/articles/s41437-020-0308-x

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 mutational meltdown as a potential SARS-CoV-2 treatment strategy - https://www.nature.com/articles/s41437-020-0314-z

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