JANUARY 17TH, 2019
The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.
To Seq or not to Seq
The results of BabySeq project, in which 159 newborns were sequenced to find genetic variants leading to increased risk of an actionable disease, proved to be very useful for some of the children and their families. The variants detected were mostly related to cardiovascular and hearing conditions which standard tests could not identify. We shall see if further research in 2019 sheds more light on the efficacy of newborn sequencing.
PsychENCODE, 15 teams studying 2000 brains to create the genetic atlas of the brain publishes their first results. SingularityHub has a nice overview.
You can also jump straight into their insights into the molecular mechanisms underlying psychiatric disorders, published in Science.
Another interesting one was transcriptomic and epigenetic changes across human development, as related to major neuropsychiatric disorders.
Last but not Least
What’s usually tested last but ends up responsible for a large chunk of change? That would be pediatric genetic disease. Aggregate total charges for suspected GD accounted for $14 to $57 billion (11–46%) of the “national bill” for pediatric patients in 2012 in the US. That’s a significant and disproportionate impact on resources and costs for health-care systems.
Quiz Break !
Which gene is also the name of a popular HIIT workout? (answer at the end)
Genome-wide meta-analysis covers 71,880 cases and 383,378 controls and identifies new loci and functional pathways influencing Alzheimer’s disease risk.
AI Rules Nature
Nature Medicine dedicates an entire issue to AI.
Our favorite article in the issue is Eric Topol’s ‘High-performance medicine: the convergence of human and artificial intelligence’ and his comparison of AI in medicine to the self-driving car.
What do risky driving, alcohol and tobacco have in common?
Apparently quite a few risk tolerance loci according to this GWAS: ‘Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences’. More evidence on how our genome influences every aspect of our lives and behavior.
ACMG Reiterates Recontact
ACMG issues points to consider regarding patient re-contact after revision of genomic test results. C is especially interesting:
“Important times for the patient to request an update are at life cycle junctures such preconception planning, pregnancy, and changes in family history information, including sudden unexpected death or the diagnosis of a major health issue in the person originally tested or a close relative”
- RIPK1 deficiency and a novel disease of combined immunodeficiency and inflammatory bowel disease. https://www.pnas.org/content/early/2018/12/26/1813582116
- SYNE1 and bipolar disorders https://www.nature.com/articles/s41380-018-0314-z
(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)
Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms.
Researchers identified a family with intracranial aneurysms. When instituting the same mutations in zebrafish, they also experienced bleeding from vessels supplying their nervous system.
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