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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...

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:...