Springer Nature

Nearly 25 years ago, a paper was published about addiction that transformed the field. The director of the US National Institute on Drug Abuse at the time called addiction a “brain disease,” and he wrote a paper articulating this position and the agenda that it implied. It led to a focus on researching the brain to understand the mechanisms behind addiction, which could lead to novel treatments. And it meant that the country began to treat addiction as a disease, thus treating it within the medical system and removing the victim-blaming stigma. Over the years, there has been a pushback against the view of addiction as a brain disease, even within the scientific community. In part, this occurred because research in neuroscience didn’t lead to effective treatments as quickly as the field hoped or promised. And in part, says Markus Heilig, it’s because other researchers felt that funding into the neuroscience of addition meant that other relevant mechanisms, such as social and psychological factors, were perhaps being somewhat neglected. Dr. Heilig and his colleagues recently published a review addressing these and other concerns. Listen in to learn more!

Article Link: https://www.nature.com/articles/s41386-020-00950-y

All too often, genomic testing in patients with undiagnosed disorders results in the finding of variants of unknown significance (VUS). This leaves the health-care provider and patient in a quandary, not knowing whether that variant is disease causing or not. On this month’s GenePod, Bekim Sadikovic, PhD, director of the Clinical Genomic Center and head of the molecular diagnostics program at Canada’s Western University, discusses the implementation of genomic DNA methylation testing in patients with rare disorders – a diagnostic tool that may help sort out the impact of VUS by identifying the signals of DNA methylation.

Related Article Title: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

https://www.nature.com/articles/s41436-020-01096-4

A lack of research on how diverse communities experience genomic medicine and integrate genetic knowledge into their understanding of and decision making around health care has led to disparities in access and utilization of genomic medicine among minority populations. “The data that's been available historically all points in the direction of suggesting that there's going to be substantial hesitance among patients in taking up new forms of genetic testing and that hesitance is rooted in historical worries”, states Dr. Richard Sharp, director of the Biomedical Ethics Research Program at the Mayo Clinic in Rochester, Minnesota.

On this month’s GenePod, Dr. Sharp and Valentina Hernandez, director of integrated nutrition services and collaborative research for Mountain Park Health Center discuss the results of a survey of both Latinx and non-Latinx patients that assessed their decision to pursue genomic risk evaluation in an effort to address this research gap. Tune in!

Related article: https://www.nature.com/articles/s41436-020-01079-5

The world of medicine has been changing rapidly due to the increasing use of ‘big data.’ And there’s been a major revolution in this approach in neuroscience and psychiatry as well: computing power, sample sizes, neuroimaging technologies, digital approaches to phenotyping, and computational modeling all are already starting to unleash dramatic new understandings of the brain, as well as new approaches to treatment. And so the journal Neuropsychopharmacology recently published a Reviews issue on the topic of Big Data. Kerry Ressler, chief scientific officer at McLean hospital and professor of psychiatry at Harvard medical school, is one of the editors.

Related article link:

https://www.nature.com/articles/s41386-020-00862-x

The field of medical genetics and genomics has a complex and troubling history vis-a-vis racist ideologies—Carl Linnaeus divided humanity into four “varieties” and Charles Darwin saw humans as genetically distinct races. And, although the field has come a long way since its beginnings, systemic racism lingers in its institutions and practices. On this month’s GenePod, Genetics in Medicine editors Kyle Brothers, MD, PhD, Robin Bennett, MS, CGC, and Mildred Cho, PhD, discuss the work that must be done to start addressing the eradication of systemic racism from scientific publishing. The authors propose eight principles that are both scientifically grounded and anti-racist in an effort to provide a foundation for enlightened policy development by publishers and editorial boards in genetics and genomics.

Acute kidney injury (AKI) causes significant morbidity and mortality in children, including prolonged hospital stays, increased risk of in-hospital death and future risk of hypertension and progression to chronic kidney disease. Whilst it is quite common, it often goes unrecognised, especially outside of the critical care setting. In this episode, Geoff Marsh speaks to Dr. Shina Menon, a pediatric nephrologist at Seattle Children's Hospital, who performed a pilot study which evaluated the utility of an e-alert system to alert care providers that a patient had AKI, in conjunction with a care bundle which offered simple guidelines to help with their management. Have a listen!

Related Article: https://www.nature.com/articles/s41390-020-1046-8

The latter half of gestation and early neonatal life are critical periods for the maturation of the autonomic nervous system. Premature infants are born with underdeveloped autonomic maturation and must undergo their developmental changes in a vastly different setting to the natural, in utero environment. A number of studies have shown autonomic dysmaturation in premature infants, although these have mainly looked at cohorts of children from high-morbidity NICUs. In this episode, Geoff Marsh talks to Dr. Sarah Mulkey, a fetal neonatal neurologist at Children's National Hospital in Washington DC, who tracked the sympathetic and parasympathetic maturation of a cohort of preterm infants with low medical morbidity in a large community NICU, to assess how birth gestational age affected their autonomic maturation. Have a listen!

Related Article: https://www.nature.com/articles/s41390-021-01420-x

Pathological risk factors for metastatic disease in patients with testicular non-seminomatous germ cell tumors are debated. The tumor-node-metastasis (TNM) classification eighth edition for testicular cancers includes divergent versions, by the International Union Against Cancer (UICC) and by the American Joint Committee for Cancer (AJCC). In this episode we discuss with Dr. Daniel Berney his recent study on the topic.

Associated article: https://www.nature.com/articles/s41379-020-00717-2

Dr. Netto discusses with his two guests, Dr. Peter MCaffrey from the UTMB in Galveston and Dr. Adam Booth, their publication on developing a machine learning model using 5 serum chemistry laboratory parameters for the prediction of death from COVID-19. The discussion is followed by a conversation on the exciting role of AI and social media in Pathology given the unique expertise of the guests.

Associated article: Development of a prognostic model for mortality in COVID-19 infection using machine learning

https://www.nature.com/articles/s41379-020-00700-x

In this episode we explore the 54th Population Genetics Group Meeting with two of its organisers: Prof. Andrea Betancourt and Eve Taylor-Cox (University of Liverpool). We also hear from the winner of the best student talk: Gabriela Montejo-Kovacevic (University of Cambridge). Listen now to hear about great new research and the trials of hosting an online conference.