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 ClinVar

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201760a.html

A new era in the interpretation of human genomic variation

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201790a.html

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 determine whether there was a way to dampen stress and make extinction therapy more effective by using pharmaceuticals. The results were published in a recent issue of the journal Neuropsychopharmacology. Listen to the latest podcast to hear about this study from researchers Stephen Maren and Tom Giustino!

Article: β-Adrenoceptor Blockade in the Basolateral Amygdala, But Not the Medial Prefrontal Cortex, Rescues the Immediate Extinction Deficit - https://www.nature.com/npp/journal/vaop/ncurrent/full/npp201789a.html

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 neonates and children. He has established a cross-disciplinary research program that focuses on the application of clinical pharmacokinetics and pharmacodynamics to guide therapeutic decision making in children.

Article link: http://www.nature.com/pr/journal/v81/n6/full/pr201760a.html

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 pentoxyfylline. Esther Speer, a pediatrician specialized in neonatology at Stony Brook Children's Hospital, carried out an in vitro study using cord blood from healthy-term neonates, providing further evidence that pentoxyfylline represents a promising alternative to corticosteroids.

Article link: http://www.nature.com/pr/journal/v81/n5/full/pr20176a.html

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 symptoms of autism, such as combatting social avoidance and improving social function. A randomized placebo-controlled trial was conducted to test this idea and the results were recently published in Neuropsychopharmacology. Listen to the latest BrainPod to hear Dr. Jeremy Veenstra-VanderWeele discuss these results!

Article:

Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial

https://www.nature.com/npp/journal/v42/n7/full/npp2016237a.html

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/vaop/ncurrent/full/hdy20179a.html

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