JUNE 6th, 2019
The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.
What’s the utility of RNA-seq from blood as a diagnostic tool for rare diseases? An exciting 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution in this study. Researchers looked at a cohort of 94 rare disease patients with large controls.
Big consanguineous pop
This 2200+ family exome study of Saudi consanguineous pop yielded Interesting findings, including over 270 novel candidate genes and recessive forms of dominant disorders.
While we’re on the topic, there was a great review of expanded carrier screening considerations, current guidelines and interpretation challenges.
Nature Reviews Genetics
Hot CCR5 news
The Twittersphere was buzzing with this new research on CCR5, the gene infamously edited by Jiankui. Using genotyping and death registry information from 400k British individuals, researchers found a >20% increase in all-cause mortality.
But, it’s important to look at the potential of gene editing. We found this review of germline gene therapy and its potential to prevent inherited disease insightful.
Quiz Break !
Which variant (research published this week) can protect you from high blood sugar when eating this?
Shortage of genetic professionals
There’s a shortage of genetic counselors and medical geneticists. There are only 1583 board-certified geneticists in the US, which represents approximately 0.1% of practicing physicians, and 4000 genetic counselors. The patient care gap amounts to 2 million visits a year! This review offers practical suggestions for expanding genetic education to medical professionals. (And we’d also add – AI to offload whatever we can from the professionals and leave them more time for patients!)
Genetics in Medicine
WGS mtDNA study
Is there selection for or against heteroplasmic mtDNA variants during transmission? Researchers looked at 12,975 whole-genome sequences and 1500 mother-daughter pairs. Just under a half (45%) of individuals within these pairs harbored mutations affecting at least 1% of their mitochondrial DNA.
Deep learning non-coding mutations
Researchers analyzed the genomes of 1,790 families in which one child has autism spectrum disorder (ASD) but other members do not (7000 samples) and used deep learning to identify the contribution of non-coding mutations to autism.
CNV burden in epilepsy
Largest CNV burden and first CNV breakpoint level association analysis in epilepsy to date. Provides evidence for deletion burden outside of known hotspot regions and shows that CNVs play a significant role.
- MED12L haploinsufficiency and intellectual disability and transcriptional defect Genetics in Medicine
- KCNMA1 and a new multiple malformation syndrome Human Molecular Genetics
- KCNN3 & Zimmermann-Laband Syndrome AJHG
- SMAD6 and nonsyndromic radioulnar synostosis Genetics in Medicine
(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)
Here’s a novel gene-disease connection for you. KDM3B causes a syndrome characterized by intellectual disability, short stature, and facial dysmorphism. Study is in 14 unrelated individuals and three affected parents.
Answer: Researchers found a variant of CHC22 more common in farming populations than hunter-gatherers clears more glucose out of the blood elife
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