FEBRUARY 28TH, 2019

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

Advice for the Sleep Deprived

We all want to sleep better at night. Will we find the answer in genomics research? I’m guessing big pharma is watching these closely.

Nature Genetics publishes, not 1, but 2 new studies that highlight potential risk loci for insomnia and identify possible correlations with coronary artery disease, depressive symptoms, and subjective well-being.
Nature Genetics Insomnia 1
Nature Genetics Insomnia 2


Improving Success of Organ Transplants

In an exciting application of genomics testing, researchers used advanced sequencing to identify additional possible incompatibility loci beyond HLA. This may improve donor-recipient matching and reduce the failure rate of kidney transplants.
The Lancet


Designer Babies – Incoming

Research on a Peruvian population shows that each minor allele of FBN1 causes a 2.2CM height reduction – the largest effect of height-associated variants identified to date.
bioRxiv Preprint

For all of us vertically challenged parents to be – Let’s not go down this route.


Quiz Break !

(answer at the end)
This week’s quiz is in honor of Rare Disease Day:

If you had to guess, what % of genomic publications in 2018 researched rare diseases vs common?


Potential Therapy for a Rare Disease

Researchers utilize CRISPR to demonstrate potential gene therapy approaches for Duchenne muscular dystrophy.
Nature Medicine

Speaking of Duchenne, did you know that 8.7% of the genomics research in 2018 focused on myopathies and other rare disorders affecting the musculature? Even though Duchenne and Becker have an estimated prevalence of 1.38 per 10,000 in the United States.
This and other interesting rare disease research facts in our blog.


What else can your microRNA do?

This study finds – for the first time – a gain of function mechanism as a cause of human skeletal dysplasia, with Emedgene’s research department contributing to the published findings.
Nature Medicine


Double the GWAS on COPD

GWAS from the UK Biobank finds new COPD risk loki, 14 of which were shared with either asthma or pulmonary fibrosis.
Nature Genetics

And this GWAS on 400,000 Europeans focuses on variants which predict the development of COPD.
Nature Genetics


The Voice of the People

Let’s not forget why we’re doing all of this, for the patients, and the clinicians serving them. 2 interesting studies came out, highlighting how genetic testing affects these target populations.

A major obstacle in genetics is translating sequencing results to practical and actionable reports serving physicians. New study surveys physicians on incorporation of genomic data in clinical care.
Genetics in Medicine

Predispositional personal genome sequencing of healthy adults is becoming increasingly prevalent. Surveys from the PeopleSeq Consortium highlight adults’ motivation, concerns, and response to such testing with <3.0% of subjects showing regret for getting tested.
Genome Medicine


Significant Singles:
  • TONSL variants and SPONASTRIME dysplasia AJHG

Ada Reports

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

Pathogenic variants in GAS2L2 impair mucociliary clearance and result in primary ciliary dyskinesia. This study used human nasal cells, mouse models, and X.laevis embryos, which made it quite convincing. AJHG


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

Answer:
raredisease socials 1

You can read the full analysis on our blog: Rare Diseases in Genomics Literature.

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