Springer Nature

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 his students, Daisy (17) and Caitlin (17), explain how they took ownership over their first real research project.

Associated article: https://www.nature.com/articles/s41437-020-00370-0

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 that asks the question: how can we inspire the next generation of plant scientists?

Associated special issue: https://www.nature.com/hdy/volumes/125/issues/6

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: genetic variation within inbred strains used to infer the mutation rate per nucleotide site - https://www.nature.com/articles/s41437-020-00361-1

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 clinical investigation that, based on its effectiveness in targeting mitochondria, she and her colleagues thought might help their Barth syndrome patients. Based on the results of the study, Dr. Vernon says elamipritide could become the primary treatment for Barth syndrome. Tune in!

Related article: https://www.nature.com/articles/s41436-020-01006-8

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 now providing hope, where there once was no hope, for those diagnosed with pancreatic cancer.

Associated article:

https://www.nature.com/articles/s41379-020-0629-6

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/articles/s41379-020-0578-0

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 neoplasms.

Associated article: https://www.nature.com/articles/s41379-020-0562-8

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/s41379-020-00661-1

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. Dr. Gelb and his team used biobanks to identify individuals with variants likely causing heart conditions associated with RASopathies or Marfan syndrome. The team then went to the electronic health records of those individuals to determine if they had been diagnosed; many had not! Furthermore, identifying individuals by genotype first yielded new insights into their phenotypes.

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 behavior. As the process is labor intensive and results vary slightly from researcher to researcher, Dr. Bohacheck and his colleagues created a new system based on machine learning, and they published the results of their study in the journal Neuropsychopharmacology, along with a review of the field.

Have a listen to learn more! Related Review - https://www.nature.com/articles/s41386-020-0751-7 and Article - https://www.nature.com/articles/s41386-020-0776-y