Sara Will Crews Finley, a geneticist at the University of Alabama at Birmingham, has died, according to the school. She was 82. Finley and her husband, Wayne, founded the medical genetics program at UAB, the first in the southeast US. She joined the medical faculty in 1960 — the school was then called Medical College of Alabama — and co-directed UAB's medical genetics lab for 30 years.

"Sara Finley was a true pioneer in medicine," Bruce Korf, the chair of the UAB genetics department, says in a statement. "She and her husband, Wayne, were among the first physicians to recognize the importance of the new field of medical genetics, and they were among the first to implement new technologies for culturing cells and analyzing chromosomes. These technologies helped untold numbers of families by providing new approaches to the diagnosis and classification of birth defects and genetic disorders, as well as enabling genetic counseling for families."

DNA sequencing is increasingly becoming the go-to test to uncover the causes of rare genetic disorders, writes Gina Kolata at the New York Times. While parents seeking such a test for their children have high expectations, experts note that genetic mutations are only found in about a quarter of cases, and the test leads to better treatment plans in only about 3 percent of cases and improvement in about 1 percent of cases. "We give the impression that we can do these things because we only publish our successes," William Gahl from the National Institutes of Health says. He adds that, when seeing patients, "we try to make expectations realistic."

"It seems this is a floor in terms of the results outcome for these children, as some of them may receive better or more effective treatments in the future, because the specific nature of their disease is already known," Razib Khan at the Gene Expression blog notes. "Since most medical treatments today are marginal in effect these outcomes don't surprise or depress me, and the price point is sure to come down."

Kolata also points out that having a diagnosis can also help patients and their families access special education services as well as ease the medical claims process.

Private companies may be able to purchase access to medical and genetic data, and possibly to personal data, housed in databases of the UK's National Health Service, the Observer's Jamie Doward reports. Last December, David Cameron announced a £100 million ($160.9 million) plan to sequence 100,000 people to study cancer and other diseases as well as bolster the NHS data infrastructure.

But, this "revelation, which contradicts government claims that such material would be completely anonymous, has raised fears that pharmaceutical firms and insurance companies will be able to determine the identities of people susceptible to particular diseases," Doward says.

Doward notes that details obtained under the Freedom of Information Act indicate that the data provided will initially be anonymized, but that companies can appeal to receive data that includes ages and postcodes. Further, while people will be able to request that their genetic data not be shared, it might not always be possible.

"While most researchers will only want access to effectively anonymized data, legal authority to access identifiable information may be provided through the consent of the citizens concerned or through legislation, such as section 251 of the NHS Act 2006," the Department of Health says, according to Doward. That section, the health department adds, says that approval may be given in cases wherre "it is very difficult to contact patients to seek their consent, or where it is vital that the data is identifiable."

Sally Davies, the chief medical officer, adds that "the privacy and confidentiality of NHS patients will be paramount at every stage of fulfilling the government's commitment to sequence 100,000 whole genomes."

In Nature this week, a team of German researchers report on the discovery that microRNA-34a is induced in the aging heart, and that in vivo silencing or genetic deletion of the small, non-coding RNA reduces age-related cardiomyocyte cell death. Additionally, inhibition of the miRNA reduces cell death and fibrosis following heart attack and improves recovery. The team also reports on a novel direct target of the miRNA, which reduces telomere shortening, DNA damage responses, and cardiomyocyte apoptosis, as well as improves functional recovery after acute myocardial infarction.

In Nature Biotechnology, a multi-institute team of Korean researchers publishes a genome-scale collection of transcription activator-like effector nucleases, or TALENs, which can be engineered to bind specific genomic loci and enable the introduction of precise genetic modifications in human cells. The scientists selected target sites that did not have highly similar sequences elsewhere in the genome to avoid off-target mutations and assembled TALEN plasmids for 18,740 protein-coding genes. They used the library to generate single- and double-gene-knockout cells in which NF-kappa B signaling pathways were disrupted, and found that these cells "showed unambiguous suppression of signal transduction" compared with ones treated with short interfering RNAs.

Meanwhile, in Nature Cell Biology, a team led by Max Planck Institute investigators report on the development of a genomic toolkit enabling the examination of kinesin and myosin motor functions in cells. They generated of a library of 243 amino- and carboxy-terminally tagged mouse and human bacterial artificial chromosome transgenes to establish 227 stably transfected HeLa cell lines, 15 mouse embryonic stem cell lines, and 1 transgenic mouse line. "The cells were characterized by expression and localization analyses and further investigated by affinity-purification mass spectrometry, identifying 191 candidate protein-protein interactions." The result is a set of validated resources and candidate molecular pathways for investigating motor protein function across cell lineages.

Researchers and clinicians are justifiably excited about methods like LC-MS/MS and next-generation sequencing making their way into their labs, but, asks Christine Snozek, director of clinical chemistry at the Mayo Clinical Arizona, what about the technicians?

Beyond simply worrying about technical validation of new platforms, lab leaders also need to make sure these new technologies are embraced by their employees, Snozek writes this week on the blog of the National Academy of Clinical Biochemistry.

Otherwise, she says, that shiny new mass spec could end up just "a dusty, expensive box sitting idle in the corner."

"Introducing any form of change is challenging," Snozek writes. "Humans are change-resistant by nature, and this is even more true for those individuals whose personalities are well-suited for the clinical laboratory with its stringent regulations and SOP-driven nature."

Education is key, she says. For instance, technicians might not be excited to switch from a fully-automated platform to LC-MS/MS detection using manual extraction. But if supervisors explain the benefits of the extra work — eliminating metabolite cross-reactivity, for example — their team will probably be more willing to come onboard.

Taking a page from the military, Snozek recommends after-action reviews to help implement new technologies. "As laboratorians, it's easy to forget about the human side of the process," she says, but with a host of new omics platforms making their way to the clinic, it's an important consideration.

A new Breakthrough Prize in Life Sciences has been awarded to 11 scientists, according to a press release from the Milner Foundation. The prize is sponsored by Genetech's Art Levinson, Google's Sergey Brin, Anne Wojcicki from 23andMe, Facebook's Mark Zuckerberg and Priscilla Chan, and Yuri Milner, the founder of Mail.ru Group.

Eleven researchers have been named this year's recipients of the award and its $3 million prize. Those researchers are: Rockefeller University's Cornelia Bargmann, David Botstein at Princeton University, Lewis Cantley from Weill Cornell Medical College, the Hubrecht Institute's Hans Clevers, Napoleone Ferrara at the University of California, San Diego, Titia de Lange, also at Rockefeller, the Broad Institute's Eric Lander, Memorial Sloan-Kettering Cancer Center's Charles Sawyers, Bert Vogelstein at Johns Hopkins Sidney Kimmel Comprehensive Cancer Center, MIT's Robert Weinberg, and Shinya Yamanaka from Kyoto University.

Each year's winners will also serve on the selection committee.

"I believe this new prize will shine a light on the extraordinary achievements of the outstanding minds in the field of life sciences, enhance medical innovation, and ultimately become a platform for recognizing future discoveries," Levinson says in a statement.