APRIL 25TH, 2019

The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.

Do you wanna know?

Do patients want to know the results of their genetic tests? The answer is yes, if there an effective preventative measure for the disease. Researchers surveyed 650 participants, with a 60% response rate.
Genetics in Medicine

In related news, the ASHG issues a statement on responsibility for recontacting patients after reinterpretation. Recontacting participants is strongly recommended if the reinterpretation is reasonably expected to affect medical management. The full statement can be read here:

Fat Old Sun

Obesity was a hot topic this week. Researchers, if you want to get picked up by media outlets, this should be your topic.

Researchers came up with a genome-wide polygenic score that quantifies inherited susceptibility to obesity. Interestingly, the effect on weight emerges early in life and increases into adulthood. Not only that, the score seems to be getting *stronger* with each generation.

Turns out MC4R is a double-edged sword, with rare LoF variants in this gene that induce obesity, but also GoF variants that protect from obesity, heart disease and diabetes.


Researchers looked at prenatal exome sequencing in cases where fetuses showed structural anomalies on ultrasound. The test had a clinical impact in 70% (14/20) cases.
Genetics in Medicine

GIF Break !

It’s DNA Day 2019!

What have we learned about the 20,000 coding genes? 25% are associated with a disease, and more data on our blog.

DNA day 19 gif


EU issues ethics guidelines for trustworthy AI. The toughest one: transparency ‘AI systems and their decisions should be explained’. We wholeheartedly agree, and are fully compliant with all guidelines.
European Commission Study

Unrelated, but also AI news
Researchers trained an algorithm to find missed cases of familial hypercholesterolemia using EHR data

Meanwhile, in the non-coding regions

Scientists estimated Loss-of-function (LoF)- tolerance scores of enhancers to suggest the association between non-coding sequence variants and complex diseases.

IMPACT, a tool to annotate regulatory elements genome-wide that identifies regulatory elements defined by cell-state-specific TF binding profiles.

The Cure

We started the issue with preventative measures and changes in medical treatment, and we’re ending with successful treatment discoveries.

1st successful gene therapy for X-linked SCID aka ‘bubble boy’ disease
New England Journal of Medicine

Anti-TNF therapy can mitigate the number of strokes and normalize the level of acute-phase reactants in patients with Deficiency of Adenosine Deaminase 2 (DADA2).
New England Journal of Medicine

Significant singles:
  • GPC4 is the third human glypican to be linked to a genetic syndrome, Keipert Syndrome AJHG
  • NMNAT2 & Fetal Akinesia Deformation Sequence bioRxiv
  • A CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly AJHG

Ada Reports

(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)

MET mutation causes muscular dysplasia and arthrogryposis. Researchers looked at a 4 generation pedigree, and confirmed in a mutant mouse model.
EMBO Molecular Medicine

Questions? Comments? Corrections? Please email us at hello@emedgene.com

Those of you with sharp eyes noticed all of the section titles were song, album or band names. Except for those non-coding regions, no ones sings about them.

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The shortest bi-weekly genomics research report in the world

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