Springer Nature

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...

From Antarctic voyages to tropical cloud rainforests, join us as we revisit some of the best fieldwork experiences shared on the Heredity Podcast.

Universal newborn screening has been successful at improving treatment and decreasing morbidity and mortality for a number of childhood diseases. Recently, a team of researchers investigated the utility of newborn screening for rare genetic pediatric cancer syndromes. Knowing whether a newborn has a genetic variant strongly associated with pediatric cancer predisposition syndromes can potentially...

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. A...

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 Cana...

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 hesita...

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 appro...

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...

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...

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 h...

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 rece...

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. Ass...

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.

Why did different sexes evolve? It’s a question as old as biology, but Prof. Dr Elvira Hörandl (University of Göttingen), with the help of biochemist Dr Franz Hadacek, may have discovered an important piece of the answer. Associated article: Oxygen, life forms, and the evolution of sexes in multicellular eukaryotes https://www.nature.com/articles/s41437-020-0317-9

In a bumper episode, filled with editorial expertise and top writing tips, discover why you should publish in Heredity in 2021!

Join host James Burgon as he shares his highlights from the past year of the Heredity Podcast.

Interest is growing in the use of the psychedelic drug LSD for psychiatric research and even potentially for treatment. But placebo-controlled studies conducted to date have used just one dose of the drug—none have investigated the impacts of a variety of dosages within the same subjects. In addition, past studies did not use pharmaceutically-defined dosages of LSD, which has made verifying the ef...

Pediatric chronic kidney disease (pCKD) results in a life-long burden that requires routine care. Neurocognitive dysfunction, specifically impairment on tasks of executive function, is a well-established comorbidity but there is a paucity of data exploring the neurobiology of these cognitive deficits. In this episode, we meet early career investigator, Dr Lyndsay Harshman, a pediatric nephrologist...

While newborn screening is gradually expanding in many states in the U.S. and other countries to include some members of a class of diseases known as lysosomal storage diseases (LSD), there has yet to be a screening test available for one LSD called metachromatic leukodystrophy (MLD). MLD is a rare neurogenetic condition that is often fatal and there is currently no widely available approved treat...

Therapeutic Hypothermia has long been the standard of care for infants with moderate to severe neonatal encephalopathy. However, the future of treatment for neonatal encephalopathy (NE) will focus on hypothermia adjuvant therapies. There needs to be a rethink in how future NE clinical trials are designed and analyzed, according to a multi-disciplinary expert panel who met at the 'Hypoxic-Ischemic...