In the biggest genetics discovery of the week, the first link between molecular processes and the onset of schizophrenia has been reported. Previously, case-control studies had pointed to the major histocompatibility complex on chromosome 6. This study pins down structurally diverse alleles of the complement component 4 genes, which are involved in tagging synapses for pruning during brain development. http://www.nature.com/nature/journal/vaop/ncurrent/full/nature16549.html, and a NYT write-up http://www.nytimes.com/2016/01/28/health/schizophrenia-cause-synaptic-pruning-brain-psychiatry.html
A write up of a fascinating case of a boy who was removed from a Palo Alto school because he had a cystic fibrosis genetic marker: http://www.buzzfeed.com/stephaniemlee/this-boy-was-thrown-out-of-school-because-of-his-dna-parents
And while on legal matters, GINA is the legislation that protects what can be done with your genetic material, and there’s a proposal to somewhat loosen it, to better enable Affordable Care Act type wellness plans: http://www.eeoc.gov/laws/regulations/qanda-gina-wellness.cfm. The Genetic Alliance is opposing, here’s a blog post that outlines their opposition: http://www.genomicslawreport.com/index.php/2016/01/25/eeoc-tries-to-harmonize-acas-promotion-of-employer-wellness-programs-with-ginas-ban-against-employer-access-to-genetic-information-of-employees-and-employees-family-members/
A British scientist has been given the go ahead to modify human embryos using CRISPR-Cas9, in an effort to ultimately help improve IVF success rates: http://news.yahoo.com/britain-gives-scientist-ahead-genetically-modify-human-embryos-111100612.html. Queue talk of designer babies.
And on research ethics, just in case you hadn’t spotted it, this NEJM editorial about “research parasites” has been causing a twitter storm: http://www.nejm.org/doi/full/10.1056/NEJMe1516564. Research parasites are those “people who had nothing to do with the design and execution of the study but use another group’s data for their own ends, possibly stealing from the research productivity planned by the data gatherers, or even use the data to try to disprove what the original investigators had posited.”
A report of the first patient identified with three independent autosomal-recessive single-gene disorders. “We propose that blended phenotypes resulting from several concomitant single-gene disorders in the same patient likely account for a proportion of presumed monogenic disorders of currently unknown cause and contribute to variable genotype-phenotype correlations.” http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg2015285a.html
An interesting company that takes the output of a cancer screening test as input to not only help find clinical trials, but others with the same mutation profile, and easily digestible “stories” about particular mutations: http://www.cureforward.com/#/viewstory
A study making the case for the cost effectiveness of population wide carrier screening based on NGS over SNP genotyping, or no testing at all (no prices for guessing line of business of study writers): http://onlinelibrary.wiley.com/doi/10.1002/mgg3.204/abstract
A Geisinger based team have done a literature aggregation exercise to produce a database of genes involved in neurodevelopmental disorders: http://geisingeradmi.org/care-innovation/studies/dbd-genes/
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All The Coolest Genomics 