Springer Nature

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 kidney failure who are waitlisted for a kidney transplant.

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 from McGill University and the Montreal Children's Hospital in Canada, who has revisited this important question.

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 Macfarlane, an associate professor in the Department of Pediatrics at Rainbow Babies and Children's hospital. He and his team have developed a mouse model to study the effects of CPAP in combination with supplemental oxygen on lung function.

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 disorder, certain kinds of depression, and even schizophrenia. And so a team of researchers led by Stan Floresco, professor of psychology at the University of British Columbia, used a rat model to study the effects of dopamine on two receptors in the region, D1 and D2. To do so, they trained the rats on two games that involved decision-making, and then they infused drugs, one an agonist and one an antagonist, to the brain region. Have a listen!

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 burden of care for patients and families.

On this month’s GenePod, Arezoo Movaghar, PhD, a post-doc in the Waisman Center at the University of Wisconsin-Madison, and Marsha Mailick, PhD, emeritus vice chancellor for research and graduate education at the University of Wisconsin-Madison, discuss the use of artificial intelligence to both identify the prevalence and severity of secondary medical conditions and to accurately diagnose patients years in advance of a typical clinical diagnosis.

Article link: https://www.nature.com/articles/s41436-021-01144-7

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 Microsatellite stable tumors. Phylogenic clues about ontogenesis and field effect are discerned from synchronous tumors.

Associated article: Molecular characterization of ulcerative colitis-associated colorectal carcinomas

https://www.nature.com/articles/s41379-020-00722-5

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: Clinico-pathologic predictors of patterns of residual disease following neoadjuvant chemotherapy for breast cancer. https://www.nature.com/articles/s41379-020-00714-5

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.

Associated article: Tribolium beetles as a model system in evolution and ecology

https://www.nature.com/articles/s41437-021-00420-1

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 lead to focused surveillance of these infants, improved management, better health outcomes, and may even be cost-effective.

On this month’s GenePod, Lisa Diller, MD, professor of pediatrics at Harvard Medical School and vice chair of pediatric oncology at the Dana Farber Cancer Institute, and Jennifer Yeh, PhD, assistant professor of pediatrics at Harvard Medical School, discuss their model-based universal screening program to answer questions about potential benefits, costs, and risks of universal newborn screening for pediatric cancer predisposition syndromes.

Related article:

https://www.nature.com/articles/s41436-021-01124-x