Springer Nature

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 coautho...

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...

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 treatment...

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...

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 profe...

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...

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...

Congenital anomalies (CA), developmental delay (DD), and intellectual disability (ID) are among the most common indicators in children that lead to genetic testing. Identification of an underlying diagnosis for CA or DD/ID can be consequential to care management and long-term prognosis for the child. But there has been no evidence-based guideline for clinicians to refer to that supports the use of...

Dr. Sabina Berezowka, from the university of Lausanne Switzerland, discusses with our host her team’s recent study describing a novel “Prognostic Score” for assessing tumor regression following Neaodjuvant therapy in non-small cell lung cancer (NSCLC). The proposed combined prognostic score (PRSC) performed better than pTNM staging and previously published Major Pathologic Response (MPR) approach....

Dr. Jason Hornick discusses his team recent study finding that a monoclonal antibody directed against the N-terminus of DDIT3 is a highly sensitive and specific for high-grade MLPS. DDIT3 immunostains could replace molecular genetic testing in many cases, although limited labeling may be seen in a range of other tumor types.

Always a visionary, Dr. Reuter was one of the earliest Anatomic Pathologists to embrace and advance the genomic and more recently the digital transformation of our field. In this episode of Meet The Expert series, Dr. Reuter shares his perspective and vision on the current and future impact of digital pathology.

In this episode Dr. Rohit Mehra of University of Michigan discusses the utility of TRIM63 as a diagnostic marker to distinguish MiTF-RCC from other renal tumor subtypes with overlapping morphology. In combination with TFE3/TFEB FISH, TRIM63 RNA-ISH assays can improve the accuracy and efficiency of MiTF-RCC diagnosis. Associated article: TRIM63 is a sensitive and specific biomarker for MiT family a...

Dr. Clare Verrill and Andrea Chatrian of Oxford University in England discuss their team’s study on AI for advance ordering of IHC in difficult prostate biopsy. Their elegant work shows that an AI tool making automated IHC request prior to the pathologist read of H&E could create leaner workflow and result in pathologist time savings and shorten overall Turnaround time from accession to final diag...

Dr. Britta Weigelt of MSKCC discusses her team’s study on synchronous endometrial (EC) and ovarian carcinomas (OC) in Lynch syndrome and constitutional Mismatch Repair Deficiency Syndrome (CMMRD). Contrary to sporadic synchronous ECs/OCs, which are almost invariably clonally related, ECs/OCs simultaneously involving the uterus and ovary in LS patients may represent two independent primary tumors....

Red sea bream are an important fish in Japan, for both culinary and cultural reasons. But there’s a problem: transparent fish are appearing in fish farms! Join Dr Eitaro Sawayama (Nihon University) and find out how he uncovered the causative gene for this deformity, and what his work means for red sea bream aquaculture. Associated article: Identification of the causative gene of a transparent phen...

After more than 150 years, wolves once again roam the Germany countryside! Of course, a lot has changed in that time. Join Anne Jarausch (Senckenberg Research Institute and Natural History Museum Frankfurt) as she discusses her recent work looking at the genetics of this ongoing, rapid and natural wolf recolonisation. Associated article: How the west was won: genetic reconstruction of rapid wolf r...

Join us as we talk to the newest member of the Heredity editorial board: Prof. Sam Banks (Charles Darwin University). Discover his eclectic research tastes, hear about his recent Heredity paper on Australia’s threatened brush-tailed rabbit-rat, and be inspired by his passion for population genetics and ecology. Associated article: Population genomics and conservation management of a declining trop...

Identifying the underlying genetic cause of kidney failure in patients awaiting transplant can impact donor choice and lead to changes in management and treatment. On this month’s GenePod, Eva Schrezenmeier at Charité-Universitätsmedizin Berlin and Carsten Bergmann at Medizinische Genetik Mainz and University Hospital Freiburg, discuss how genetic testing can identify a diagnosis for patients with...

Previous studies have shown an association between fluid retention during the early postnatal period and increased BPD. However, these studies were performed nearly two decades ago meaning their results may not apply to the contemporary NICU setting, with its widespread use of surfactants and modern incubators. In this episode we meet this month's featured Early Career Investigator Marc Beltempo f...

Respiratory support plays a crucial role in the care of preterm infants in the NICU, ensuring that they get enough oxygen during this critical period of development. But it is becoming increasingly clear that former preterm infants who have been exposed to ventilatory support are at an increased risk of developing asthma and other respiratory disorders. In this episode, we speak to Peter Macfarlan...

It’s known that dopamine transmission in the brain, particularly in the frontal lobes, can affect decision-making and can regulate choices when it comes to actions and rewards. But the effect of dopamine transition in the medial orbital frontal cortex hasn’t yet been studied, and dysfunction in that region has been implicated in a variety of mental illnesses, including obsessive compulsive disorde...

While Fragile X syndrome is the most common cause of inherited intellectual disability, it is still underdiagnosed in the general population. As the phenotype may be subtle, the diagnostic pathway can take years. In addition to this, the syndrome is accompanied by many secondary health conditions — the full spectrum of which are not entirely understood by medical practitioners — adding to the burd...

Dr. Daniela Hirsch, from the Institute of Pathology at the University of Heidelberg in Germany, discusses her findings on the molecular alterations associated with colorectal cancer in the setting of Ulcerative Colitis. Using aCGH, a 48 gene panel and MSI analysis and IHC for TP53, the author and her team revealed high rate of TP53 mutations and gains in chromosome 5p in these predominantly Micros...

Dr. Stuart Schnitt from Brigham and Women Hospital in Boston discusses his team's recent findings of variable architectural and cytological patterns of residual disease in breast cancer patients with incomplete pathologic response. The relationship of pattern of residual disease to pre-treatment clinicopathologic parameters and the potential impact on management are discussed. Associated article:...

A scourge to many in agriculture, flour beetles in the genus Tribolium may be the best model system you’re not using. Join PhD student Michael Pointer, Prof. Matthew Gage and Dr Lewis Spurgin (University of East Anglia) as they discuss the importance of Tribolium beetles across a remarkable range of research fields… and their great untapped potential as a model system in evolution and ecology. Ass...