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The Decline


One fear that many people have about growing older is a gradual decline of physical and cognitive function, so slow that it isn't quickly recognizable; perhaps you are just becoming forgetful, or delays in reaction time are simply a consequence of not being so young anymore. We see these changes occur in our grandparents and parents, hoping we might somehow be spared. We may; then again, we may not. Many neurodegenerative diseases are, at least in part, heritable. But some can also appear at random, subjecting us to the vagaries of chance. That's the uncertainty, the fear of the decline.

In this month's cover story, Tracy Vence focuses on amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease. This neurodegenerative disease is marked by muscle weakness due to motor neuron death. It is most often diagnosed in people over 50, but symptoms can appear earlier. Tracy reports on work into the gene-tic basis of both familial and sporadic ALS, though she notes that research into the latter form of the disease has been more difficult. However, researchers continue to link novel genetic variants to ALS and develop new models to study the disease's etiology and progression. High-throughput technologies like next-generation sequencing are propelling that work forward.

Elsewhere in this issue, Matthew Dublin looks at new ways researchers are making quantitative PCR even faster. By multiplexing reactions, scientists are gaining speed while using smaller amounts of their precious samples. Using a variety of techniques — including digital PCR, monochrome multiplex qPCR, and allele-specific methylated multiplex real-time qPCR — they also continue to achieve greater resolution. Despite that, Gregory Shipley at the University of Texas warns that researchers should look at all new methods with a touch of skepticism, as many techniques still need to prove their equivalence to single-plex approaches.

Finally, a correction: In the sidebar to last month's Brute Force column, the Java script for transcriptome reconstruction from RNA-seq reads is called Scripture, not Signature. Genome Technology regrets the error.

The Scan

Drug Response Variants May Be Distinct in Somatic, Germline Samples

Based on variants from across 21 drug response genes, researchers in The Pharmacogenomics Journal suspect that tumor-only DNA sequences may miss drug response clues found in the germline.

Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

A secondary analysis of Phase 3 clinical trial data in JAMA Network Open suggests an investigational oral microbiome-based drug may lead to enhanced quality of life measures.

Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.