Springer Nature

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...

Institutions and healthcare systems had started to introduce wellness initiatives following the growing realization of the widespread problem of physician distress and burnout. Whilst these programs might be effective, there is currently a lack of evidence about who uses them and whether they are best suited to their target audience. In this episode, we meet Dr. Andrea Weintraub from the Icahn Sch...

Motivated by a series of mass mortalities, a team of marine biologists voyaged across the Caribbean in search of a poorly understood organism – the vase sponge. Join Dr Sarah Griffiths (Manchester Metropolitan University) and Prof. Donald Behringer (University of Florida) as they discuss the complex population genetic structures they uncovered, and the potential impact of their spongy discoveries...

It’s understood in epidemiological research that women who experience trauma during puberty are at significantly higher risk for affective disorders such as depression and anxiety when they become pregnant. And so Tracy Bale, a professor in the departments of psychology and psychiatry at the University of Maryland in Baltimore, has done several studies using mice to try to model and understand thi...

Speciation is often considered unidirectional: a continual process of divergence interrupted only by extinction events. However, this isn’t entirely true. In this episode Dr Jente Ottenburghs (Wageningen University) discusses the curious case of the bean geese: where speciation appears to have stopped and, perhaps, begun to reverse. Associated article: Recent introgression between Taiga Bean Goose...

The antagonistic co-evolution that characterises host-parasite relationships is one of the most fascinating interactions in genetics. In this episode, Dr Gilberto Bento discusses one such interaction, the Daphnia–Pasteuria host–parasite system, and the discovery of an alternative route of bacterial infection associated with a novel resistance locus. Dr Bento also talks about his experience of leav...

In episode five of our editorial series we meet Dr Rui Faria from the Research Center in Biodiversity and Genetic Resources at the University of Porto (Portugal). Dr Faria’s research looks at the role of chromosomal inversions in the generation of biological diversity, focusing on Littorina snails as a model. And, in a more personal inversion, Dr Faria took his first steps behind a scientific jour...