Springer Nature

Children with medical complexity typically require multiple medications throughout the course of their treatment. These individuals also increasingly undergo genome-wide testing early in life as a diagnostic test.

Since many medications prescribed to children have established gene-drug interactions, could this genetic data be repurposed to aid precision prescribing in this priority pediatric population?

In today's Pediapod, we meet Early Career Investigator, Gregory Costain, a physician scientist at The Hospital for Sick Children in Toronto, Canada who recently published a retrospective study which looked at this question.

Read the full study here: https://www.nature.com/articles/s41390-022-02313-3

It’s clear there are diversity issues in science, both in terms of who does or doesn’t receive research grants, as well as who is or isn’t represented at the highest levels of scientific research. When Caleb Weinreb and Daphne Sun began their PhD program at Harvard University Medical School in systems biology, they took this on as an issue. They learned from others in their department, and they eventually created a course on the topic for incoming first year PhD students.

As they worked on improving their course over the years, they saw that in science there was a focus on narrowing racial gaps by correcting for implicit bias. For example, there had been a well-known study in which resumes with stereotypically African-American names weren’t considered as seriously as those with stereotypically white names. But the two PhD students realized that efforts to overcome such implicit bias weren’t moving the needle. They recently published a perspective paper in the journal Neuropsychopharmacology called “To dismantle structural racism in science, scientists need to learn how it works.” Caleb Weinreb is now a post-doc in the neuroscience department at Harvard Medical School.

Read the full paper here: https://www.nature.com/articles/s41386-023-01534-2

Tom Oosting discusses his research on the population demographics of the Australasian snapper, an economically important fish found in the waters around New Zealand. This study combines modern sampling with museum samples collected from pre-colonial Māori middens.

This episode explores the recent Heredity paper: “Mitochondrial genomes reveal mid-Pleistocene population divergence, and post-glacial expansion, in Australasian snapper (Chrysophrys auratus)” https://www.nature.com/articles/s41437-022-00579-1

Neonatal opioid withdrawal syndrome (NOWS) represents a major public health problem in the US with a high socioeconomic burden. The pathophysiology of this condition is not yet fully understood. Data from animal models have shown that opioids modulate brain reward signalling via an inflammatory cascade, however no such data exist for opioid-exposed neonates.

In this episode of Pediapod we meet Early Career Investigator Elizabeth Yen, an assistant professor of pediatrics at Tufts University School of Medicine. She recently published a pilot study which looked at the effects of prenatal opioid exposure on gene expression and white matter injury.

Read the full study here: https://www.nature.com/articles/s41390-022-02357-5

Every year, Heredity publishes some outstanding student-led papers, and to recognise the quality of this work the journal runs a student paper prize. So, what makes a paper stand out? Find out, as Co-Editor-in-Chief Aurora Ruiz-Herrera joins the podcast to explore the three best student-led papers of 2022.

Find the full Student Prize Longlist Collection here: https://www.nature.com/collections/bvttbjrkyx

Rare diseases affect millions of people in the USA. However, access to subspecialty care is not distributed equitably and there may be other barriers to clinic attendance. Furthermore, once established within the genetics clinic, families may still face barriers along the path to getting a molecular diagnosis.

In this episode, we meet Early Career Investigator, Monica Wojcik, a neonatologist and geneticist at Boston Children's Hospital who ran a study to determine the influence of social determinants of health on the care-cascade following referral to a high-volume pediatric outpatient genetics clinic.

Read the full study here: https://www.nature.com/articles/s41390-022-02240-3

Psychedelic drugs have received attention recently for their potential use as treatments for psychiatric disorders. Single, high doses of LSD have shown promise for treating depressive disorders. But there’s another way in which people have been using LSD, and it’s what’s known as micro-dosing, taking LSD at below noticeable levels, where it doesn’t seem to have a psychedelic impact—but users say it does in fact have an impact on their overall sense of well-being.

This is just what Harriet de Wit, University of Chicago professor in the department of psychiatry and behavioral neuroscience, wanted to study. Dr. de Wit partnered with James Glazer, a postdoc in psychiatry at Northwestern University.

Read their full study here: https://www.nature.com/articles/s41386-022-01479-y

Dr Emiliano Trucchi (Marche Polytechnic University) and Dr Céline Le Bohec (University of Strasbourg; Monaco Scientific Center) discuss the genetic basis of cold adaptation in the emperor penguin. Céline also shares her experience of visiting Antarctica.

This episode explores the recent Heredity paper: “Selection-driven adaptation to the extreme Antarctic environment in the Emperor penguin” https://www.nature.com/articles/s41437-022-00564-8

Systemic lupus erythematosus (SLE) causes significant long-term morbidity and mortality, particularly in children. There is some evidence that the innate immune system, in particular neutrophil activity, can be compromised in adult-onset lupus. Yet there is a paucity of data on neutrophil activity in pediatric SLE.

This month on Pediapod, we join Early Career Investigator, Rakesh Kumar Pilania, an assistant professor at the postgraduate Institute of Medical Education and Research in Chandigarh, India to discuss his study of neutrophil activity in patients with pediatric SLE and what it reveals about the etiology of this condition.

Read the full article here: https://www.nature.com/articles/s41390-022-02055-2

Adenoid Ameloblastoma is a very rare benign odontogenic tumor characterized microscopically by epithelium resembling conventional ameloblastoma, with additional duct-like structures, epithelial whorls, and cribriform architecture. Dentinoid deposits, clusters of clear cells, and ghost-cell keratinization may also be present.These tumors do not harbor BRAF or KRAS mutations and their molecular basis appears distinct from conventional ameloblastoma but remains unknown. Dr. Carolina Cavalieri Gomes from the Universidade Federal de Minas Gerais in Brazil, discusses her team’s discovery of CTNNB1 (beta-catenin) exon 3 mutations in 4 of 9 primary cases and 2 additional recurrences.

While the occasional presence of ghost cells keratinization was the feature that led the team to initially investigate beta-catinin, this feature was present in only 2/6. Furthermore, nuclear beta-catenin immunoexpression (IHC) was found in 7 of 8 tested samples including some with wild type CTNNB1. The findings support the classification of adenoid ameloblastoma as a separate entity, and not as a subtype of ameloblastoma. The use of beta-catenin IHC could help in establishing the diagnosis in challenging cases.