Springer Nature

Electronic cigarettes are used almost as much as conventional cigarettes in some parts of the world and are particularly popular among young people. They are often advertised as a means of stopping smoking but there is a lack of consistent evidence for this claim. In this episode, we hear from Dr. Man Pin Wang from the School of nursing, University of Hong Kong. He and his team performed a longitu...

Molecular autopsy in maternal-fetal medicine - https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017111a.html

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201714a.html Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201737a.html Sources of discordance among germ-line variant classifications in ClinV...

One method of treating Post-traumatic stress disorder (PTSD) involves extinction therapy, but researchers have found that the timing of such therapy is extremely important, and that it often doesn't work if the therapy is conducted too soon after the initial trauma. Stress itself may be harming the efficacy of the treatment. A team of researchers at Texas A&M University conducted research to deter...

This is the first in a series of bi-monthly episodes centered around an Early Career Investigator who publishes in the journal. This month, we meet Dr. Adam Frymoyer, a clinical assistant professor in the department of pediatrics at Stanford University. He describes himself as a 39 year old physician-scientist, passionate about promoting the safe and efficacious use of therapeutic drugs in neonate...

Neonatal sepsis is a common cause of mortality in newborns. Often, it is the inflammation in response to the pathogen, rather than the pathogen itself, that causes the most harm to the sick patient. Neonatal sepsis is currently treated with corticosteroids but they come with a significant number of adverse effects. One promising new anti-inflammatory drug is a phosphodiesterase inhibitor called pe...

Autism Spectrum Disorder is a disorder that has been defined by the medical community, but so far, none of the medications available for ASD treat the core symptoms of the disease, but rather secondary symptoms such as agitation or hyperactivity. Because ASD is genetically linked to Fragile X syndrome, researchers noticed that in a mouse model, the drug arbaclofen reduced what would be core sympto...

This Genetics in Medicine podcast discusses the following article: Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201733a.html

This Genetics in Medicine podcast discusses the following article: Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201731a.html

Discussion on these articles: Contrasting patterns of population structure and gene flow facilitate exploration of connectivity in two widely distributed temperate octocorals https://www.nature.com/hdy/journal/vaop/ncurrent/full/hdy201714a.html Air-borne genotype by genotype indirect genetic effects are substantial in the filamentous fungus Aspergillus nidulans https://www.nature.com/hdy/journal/v...

This month, discussion on: Genetically diverse newts https://www.nature.com/hdy/journal/v118/n5/full/hdy2016123a.html Bt toxin resistant moths https://www.nature.com/hdy/journal/v118/n4/full/hdy2016104a.html

How fruit fly genes can influence their social experiences https://www.nature.com/hdy/journal/v118/n4/full/hdy2016101a.html How birch trees might be taking a leaf out of the bacterial book to fight off toxic metals https://www.nature.com/hdy/journal/v118/n4/full/hdy2016106a.html

The gateway hypothesis, that early use of drugs such as tobacco, alcohol, or marijuana during adolescence progresses to harder drugs such as cocaine and heroin, was first proposed in the 1970s. In a recent publication of the journal Neuropsychopharmacology, Yasmin Hurd, Professor of Neuroscience at Mount Sinai, co-authored a commentary evaluating the research to date that either supports or challe...

The National Institutes of Health recently published a statement requiring sex as a biological variable in studies. This is in part simply because it's good science, and in part to correct for decades in which both animal and human studies were largely conducted with male subjects. In their review paper responding to this statement, Dr. Tracy Bale and Dr. Neill Epperson discuss how sex has a direc...

The 2017 issue of Neuropsychopharmacology Reviews, "The Immunology of Behavior—focuses on the growing appreciation of the immune system in understanding brain and health illness. This podcast synthesizes this year's issue, which showcases a wide range of reviews about the relationship between immunology and brain and health illness, demonstrating how advances in our understanding of immunology hav...

LSD is not only a well-known psychedelic drug, but it was also studied extensively for its potential in psychotherapy in the early days of its use, about fifty years ago. Those early studies didn't necessarily meet today's standards for clinical trials, and previous research ended in the 1970s, due to changing regulations and a prohibition against LSD. Today, LSD is once again being studied for it...

This Genetics in Medicine podcast discusses the following article: The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016194a.html

This podcast discusses the following Genetics of Medicine article: Carnitine palmitoyltransferase 1A P479L and infant death: policy implications of emerging data https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016202a.html

This Genetics in Medicine podcast discusses the following articles: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016182a.html Population screening for BRCA1/BRCA2 mutations: lessons from qualitative analysis of the screening experience https://www.nature.com/gim/...

This Genetics in Medicine podcast discusses the following articles: The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016143a.html The need for a next-generation public health response to rare diseases https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2016166a.html

The legality of medical and recreational marijuana use is on the rise across the US, and this has led to an increase in its usage. But the effects of second hand marijuana smoke on young infants is unknown. Taking advantage of a newly developed high sensitivity assay, Karen Wilson, a pediatrician at the Icahn School of medicine, Mount Sinai, New York, showed that 16% of a cohort of young children...

We know that drugs can work differently in adults and in children. But in newborns? We know their physiology is different, and that can affect how drugs are metabolized and processed; for instance, their heart doesn't respond as readily to drugs meant to increase its force. But neonates are often excluded from studies of medicinal products. Clinicians need more specific guidelines as to how to stu...

Hear an interview with Geisinger Health System's Jennifer Wagner, who discusses her recent publication in Genetics in Medicine which addresses how to get the most out of the Precision Medicine Initiative.

Genepod: Investigating the lower risk of solid tumors in Down Syndrome by Springer Nature

Genepod: New and Old Quandaries in Newborn Screening by Springer Nature