Posts Tagged ‘i0ashg14’

Geneticists tap human knockouts

November 1, 2014

Sequenced genomes reveal mutations that disable single genes and can point to new drugs.

Ewen Callaway

28 October 2014 Corrected:
29 October 2014

You should also read the Corrections to this article


The poster child for human-knockout efforts is a new class of drugs that block a gene known as PCSK9 (see Nature 496, 152–155; 2013). The gene was discovered in French families with extremely high cholesterol levels in the early 2000s. But researchers soon found that people with rare mutations that inactivate one copy ofPCSK9 have low cholesterol and rarely develop heart disease. The first PCSK9-blocking drugs should hit pharmacies next year, with manufacturers jostling for a share of a market that could reach US$25 billion in five years.

“I think there are hundreds more stories like PCSK9 out there, maybe even thousands,” in which a drug can mimic an advantageous
loss-of-function mutation, says Eric Topol, director of the Scripps Translational Science Institute in La Jolla, California. Mark Gerstein, a bio­informatician at Yale University in New Haven, Connecticut, predicts that human knockouts will be especially useful for identifying drugs that treat diseases of ageing. “You could imagine there’s a gene that is beneficial to you as a 25-year-old, but the thing is not doing a good job for you when you’re 75.”


My Public Notes from ASHG 14

October 24, 2014–20141018-i0ashg14–20141019-i0ashg14+SV

(Lab-only link to a ppt I gave, some with “audio” annotation.)

My Public Notes from ASHG 14

October 24, 2014

Fighting a One-of-a-Kind Disease

October 24, 2014

BMC Bioinformatics | Full text | GAPscreener: An Automatic Tool for Screening Human Genetic Association Literature in PubMed Using the Support Vector Machine Technique

October 24, 2014

Is everything we eat associated with cancer? A systematic cookbook review

October 24, 2014

Primates and mouse NumtS in the UCSC Genome Browser

October 24, 2014 as ref. to current annotation in human

The genomic landscape of polymorphic human nuclear mitochondrial insertions | bioRxiv

October 24, 2014

Assembling Large Genomes with Single-Molecule Sequencing and Locality Sensitive Hashing | bioRxiv

October 24, 2014

PLOS Computational Biology: Analysis of Stop-Gain and Frameshift Variants in Human Innate Immunity Genes

October 24, 2014