Springer Nature

Early on in the SARS-CoV-2 pandemic, the majority of infected children were either asymptomatic or had mild COVID-19 disease, prompting many to demand a higher acceptable risk threshold for pediatric vaccines. More recently, as children begin to make up a larger proportion of the infected population and following evidence of the mental and physical toll exacted by the pandemic on children, a pediatric vaccine is now more pressing. But challenges to widespread vaccine uptake remain. In this episode meet Dr. Chulie Ulloa from the University of California Irvine about a recent commentary she wrote with fellow pediatric providers, physician scientists and advocates for children about these challenges and how they might be overcome.

Polygenic risk scores (PRS) can be an important tool in breast cancer patients to help stratify individuals into levels of disease risk. The clinical utility of PRS is still being evaluated, but what hasn't yet been evaluated is how to communicate such results to patients, and how they respond to their PRS scores.

On this month’s GenePod, Tatiane Yanes, a post-doctoral researcher at the University of Queensland and a genetic counselor at the Queensland Children’s Hospital, discusses how a team of researchers surveyed an existing pool of patients that had undergone genetic testing for breast cancer. “We're really just trying to get an understanding of how someone might respond to receiving this information, and what sort of decisions they might make around their breast cancer risk management”, said Yanes.

In this special “Meet the Expert” episode, two distinguished guests from Johns Hopkins University discuss their pioneering approach of applying methodologies, initially developed for astronomy, to the assessment of biomarkers of tumor microenvironment (TME). The guests are Dr. Janis Taube, director of Dermatopathology at Hopkins, and a co-Director of the TME Core at the Bloomberg-Kimmel Institute of Immunotherapy and Dr. Alex Szalay, Bloomberg Distinguished Professor of Astronomy and Computer Science at Hopkins and the architect for the Science Archive of the Sloan Digital Sky Survey. The fascinating discussion focuses on an innovative multiplex imaging platform that they co-developed (AstroPath) for multidimensional assessment of spatially resolved interactions at the single-cell level of lung cancer and melanoma.

In this episode, Dr. Ian Cree, Head of The WHO Tumour Classification discusses his team's recent open access publication in Modern Pathology. Historically, mitotic figures counting has been done by expressing the number of mitoses per n high power fields (HPFs), ignoring the fact that microscope fields may differ substantially, even at the same high power (×400) magnification. Dr. Cree and coauthors remind all of this variation and its implication on the accuracy of our diagnostic and tumor grading practices. While the expanding adoption of computational digital pathology algorithm will help bring consistency to assessing proliferation activity, our MODPATH Chat guest recommends that counting should be performed per standard international unit of (mm2); with an indication of the area to be counted and the method used (“hotspot” vs “average”).

Nile tilapia are the third most important farmed fish worldwide, but the emergence of the Tilapia Lake Virus (TiLV) threatens its sustainable production. In this episode, Dr Agustin Barría (The Roslin Institute) discusses his recent collaboration, where they used a natural outbreak of TiLV to investigate the genetic architecture of disease resistance.

In this episode we explore the recent Heredity paper: “A major quantitative trait locus affecting resistance to Tilapia lake virus in farmed Nile tilapia (Oreochromis niloticus)” https://www.nature.com/articles/s41437-021-00447-4

Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month’s GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments.

Ravi Savairayan, professor of genetics at the Murdoch Children’s Research Institute discusses the long-term study of vosoritide – the first drug to be approved to treat achondroplasia in Europe with ongoing FDA review in the United States.

Maxime Luu, at the University Hospital of Dijon, explains why a trial to treat PIK3CA overgrowth spectrum (PROS) with the breast cancer drug taselisib was halted and, nevertheless, how this promising line of research may proceed in the future.

The prognostic significance of regression has long been a matter of debate. Our guest, Professor Richard Scolyer, co-director of the Melanoma Institute Australia discussed his team’s recent findings on the prognostic value of regression, and the presence of regression and/or tumor infiltrating lymphocytes (TIL) in primary cutaneous melanomas predicted sentinel lymph node (SLN) status and survival outcomes.

Chorioamnionitis is an intrauterine infection of the placenta and fetal membranes. It is the leading cause of preterm delivery and is a common risk factor for adverse pulmonary outcomes such as bronchopulmonary dysplasia. There is evidence to suggest that the first negative impacts on pulmonary development occur in utero in the presence of chorioamnionitis. In this episode, we meet assistant professors Niki Reynaert and Tim Wolfs from Maastricht University in the Netherlands. Together they studied an ovine model of chorioamnionitis in order to study the effects of chronic and acute inflammation on the developing lungs.

Juvenile idiopathic arthritis (JIA) is one of the most common inflammatory joint diseases in children. Previous studies have shown that in the oligoarticular subtype of this disease, T cells play a central role in pathogenesis. T cell inhibitory receptors (IRs) seem to play an important role in the development of tolerance and recognition of self and non-self antigens. Ligands binding to these IRs inhibit T cell function and modulate the course of the immune response. In this episode, we meet this month's highlighted Early Career Investigator Erdal Sag, a paediatric rheumatologist at Ankara Training and Research Hospital in Turkey. He and his team designed an ex vivo disease model to examine the effects of different co-inhibitory receptors on the pathogenesis of oligoarticular JIA.

Loneliness is a subjective experience, but neuroscientists define it as a distress that arrives from a discrepancy between perceived and desired social relationships. There may be an evolutionary benefit to the feeling of loneliness; we’re a social species, and feeling lonely might have sent us to seek out other humans, which has been very important for survival. Moreover, if gone unaddressed and isolation worsens, health effects of loneliness have been shown to double mortality rates. It's linked to cardiovascular disease, metabolic disease, cognitive decline, higher rates of dementia, and poor mental health outcomes (i.e. depression and anxiety).

With loneliness implicated in so many cognitive impacts, Dr. Lee and her colleagues wanted to understand what is known to date about the impact of loneliness on the brain. They conducted a systematic review of the published research that examines loneliness and resulting neurobiological assessments, such as imaging studies, EEG studies, and pathological studies. Listen in and read to learn more!