Springer Nature

Pediatric Pulmonary Hypertension (PAH) is a heterogeneous disease, characterised by sustained elevation of pulmonary arterial pressures and death from right ventricular failure. Given the extremely high burden of morbidity and mortality associated with this disease, and the risk of the invasive procedures required for diagnostics, novel biomarkers for this disease would be beneficial. In this epis...

Effective decision making in the Pediatric Intensive Care Unit relies on quickly ascertaining diagnostic information in order to deliver a tailored clinical response. The utility of rapid genetic testing of critically ill patients has been demonstrated several times, owing to their relatively high diagnostic yield. However the cost and slow turnaround of results have been major barriers in the pas...

Dr. Peter Sadow , Director of Head and Neck Pathology at MGH discusses with Modern Pathology Editor Dr. George Netto his recent work defining morphologic correlates of the expanding list of Kinase Fusions driving thyroid cancers. A triage testing algorithm and therapeutic implications are highlighted in the discussion. Study by Chu et al, Clinicopathologic features of kinase fusion-related thyroid...

When Jon Hale, a teacher at Beaulieu Convent School in Jersey, asked himself “how do we inspire the next generation of scientists?”, he came up with an incredibly ambitious plan. It involved a Royal Society Partnership Grant, daffodils, and some of the most cutting-edge genome sequencing technology available. In this episode Jon tells us about his transformative school-based initiative, and two of...

In this episode we discuss the new Heredity Special Issue, Plant Quantitative Genetics: from Theory into Practice, with guest editors Dr Alison Bentley (CIMMYT) and Dr Lindsey Compton (University of Birmingham). Join us as we delve into the reviews, perspectives and research papers that explore the opportunities and applications of quantitative genetics in a range of plant species, and one paper t...

For over a century, inbred mice have been at the heart of genetics research. They are undoubtedly one of the most important models in all of biology. But are the mice from inbred lines really as genetically identical as often assumed? Find out in this episode as we hear from Dr Jobran Chebib and Prof. Peter Keightley (University of Edinburgh). Associated article: Inbred lab mice are not isogenic:...

Barth syndrome, an exceedingly rare genetic condition that affects only males, causes heart disease and immune deficiencies–and there’s no known treatment that addresses the cause of the disease. On this month’s GenePod, Hilary Vernon, MD, PhD, associate professor of genetic medicine at Johns Hopkins University School of Medicine, describes a study of elamipretide, a compound already under clinica...

The recent publication of the “Pan-Cancer Atlas” by the Pan-Cancer Analysis of Whole Genomes Consortium provided a great opportunity for Dr. Ralph Hruban and his team to reflect on where we stand in our understanding of the genetics of pancreatic cancer. From germline variants that predispose to the development of the disease, to somatic mutations that are therapeutically targetable, genetics is n...

The host discusses with Professor Ondrej Hes, from the Charles University in the Czech Republic, his recent multi-institutional study that further defines ALK-RCC as a genetically distinct renal cancer type showing a heterogeneous histomorphology. The authors advocate a routine ALK IHC screening for “unclassifiable RCCs” with heterogeneous features. Associated article: https://www.nature.com/artic...

Dr Netto discusses with Dr. Andrew Folpe a novel tumor of soft tissue and bone with a predilection for young females. The newly discovered lesion is provisionally termed “xanthogranulomatous epithelial tumor”. Clues to the diagnosis of this tumor type are presented by Dr. Folpe with a practical guide to navigating the challenging differential diagnosis of epithelial expression in mesenchymal neopl...

A discussion with Dr. Borczuk of New York Presbyterian Hospital- Weill Cornell Medicine on his team findings in sixty eight COVID-19 autopsies, performed early on during the pandemic, at 3 institutions in heavily hit areas (2 USA, 1 Italy). While a heterogeneous disease, COVID-19 pneumonia displayed consistent features in all three centers. Associated article: https://www.nature.com/articles/s4137...

Could genome sequencing be used to prospectively identify people at high risk for having a genetic disorder? And, could this enable early multidisciplinary care and avoid life-threatening events? On this month’s GenePod, Bruce D. Gelb, MD, director of the Mindich Child Health and Development Institute at Mount Sinai’s Icahn School of Medicine, describes the genotype-first approach his team took. D...

Scientists who study neuropsychiatric conditions and treatments often use rodent models to do so. From depression to anxiety to memory impairment and impulsivity, there are certain rodent behaviors that are used to represent these types of conditions in humans. And to use these models, researchers have had to watch the animals live or on video and jot down every instance of, say, exploratory behav...

In September Heredity unveiled the winners of its first ever prize for best student-led paper. In this episode we explore this collection of outstanding research with the help of Emily Baker, The Genetics Society’s postgraduate representative, the overall winner, Donald McKnight, and the Editor-in-Chief of Heredity Prof. Barbara Mable. Tune in to hear some fascinating science and learn some top-ti...

Within the Brazilian mangroves resides some of the most unique organisms on Earth: killifish. Specifically, two species within the genus Kryptolebias, which are the only known vertebrates to reproduce through self-fertilisation. What impact does this unusual mating system have on their population genetic structure? Dr Waldir Berbel-Filho ventured into the inhospitable mangroves to discover the ans...

Modern Pathology Editor in Chief discusses with Laura Wood MD PhD her recent study on quantitative assessment of residual pancreatic intraductal carcinoma following neoadjuvant chemotherapy. The implications of finding that the intraductal component of pancreatic cancer is more resistant to chemotherapy are highlighted. Associated article: Intraductal pancreatic cancer is less responsive than canc...

Specialty clinics are an exceptional resource, but research has shown that 95% of those with Down syndrome lack direct access to a Down syndrome specialty clinic. Yet, those with Down syndrome are more likely to be up-to-date with health-care guidelines if their caregivers have access to an online health-care tool. On this month’s GenePod, Brian Skotko, MD, MPP, director of the Down Syndrome Progr...

Join Prof. Daniel Blumstein (UCLA) as he discusses his new popular science book The Nature of Fear: Survival Lessons from the Wild. Prof. Blumstein has scoured the animal kingdom in search of better ways for us to live wisely with this primordial emotion and cope with risk. It’s a journey that’s involved diving with giant clams, biking through tiger country, and developing an inordinate fondness f...

The genetic structure of a population can shape an organism’s ecology and evolution. However, that structure often changes depending on the geographic scale you’re looking at. In this episode Dr Alex Twyford (University of Edinburgh) discusses the complicated genetic structures displayed by an emerging model – the yellow monkey flower, Mimulus guttatus. A proud botanist, Dr Twyford also explores t...

A novel tumor type with EWSR-CREB fusions blending features of Angiomatoid FH and Mesothelioma; a discussion with the author Pedram Argani. Associated article: https://www.nature.com/articles/s41379-020-0646-5

The application of the study of genetics and the use of big data to identify patterns of inheritance as well as de novo mutations has had a dramatic impact on the field of Autism Spectrum Disorder research, and it offers pathways to a greater understanding of biological mechanisms, even potentially treatments. Matthew State, chair of the department of psychiatry at University of California San Fra...

Smoking in adults and adolescents is at an all-time low today, yet around 1 in 2 children who visit the Emergency Department have been exposed to tobacco smoke. We know that there numerous health consequences associated with tobacco smoke exposure (TSE), and that this also comes at a substantial monetary cost- in 2010, child tobacco smoke exposure resulted in more than 101,570 annual ED visits, co...

Museum collections play a vital role in active research and conservation programmes, and in this episode we’re going to explore a prime example of just how valuable they can be. Join Kyle Ewart (University of Sydney; Australian Museum Research Institute) and Leo Joseph (Australian National Wildlife Collection, CSIRO) as they discuss their recent research on the iconic red-tailed black-cockatoo, an...

A history of distrust and skepticism surrounds genetics research for Alaska Native tribes. Not having tribal health organizations engaged with genetics research in a meaningful way means Alaska Native people are missing out on benefits from discoveries that come out of research. On this month’s GenePod, Denise Dillard, PhD, director of research for South Central Foundation, a tribal healthcare org...

A conversation with David Rimm, the author of a recent study on Triple negative breast cancer, on using a novel statistical algorithm (ONEST) to improve reproducibility of PD-L1 assessment by pathologists Associated article: Prospective multi-institutional evaluation of pathologist assessment of PD-L1 assays for patient selection in triple negative breast cancer https://www.nature.com/articles/s41...