Scientists are in rare form today, donning denim ribbons in support of rare diseases today. Introduced in 2008, Rare Disease Day aims to raise awareness for orphan diseases that often fall under the radar. Keeping with this mission, below we highlight some of Nature Medicine’s recent coverage into issues faced by rare disease researchers.

Last month, we reported about Sanofi-Aventis’ takeover of Genzyme Corporation, the Cambridge, Massachusetts-based biotech that made its name by developing therapies for Gaucher disease, Fabry disease and other rare disorders. But buy-outs are not the only way that big pharma is getting in the rare disease game. In August 2010, we highlighted the growing trend of drug makers launching new research units devoted exclusively to developing and commercializing new drugs targeting rare diseases. Also in August, we reported on new ways that patient advocacy groups are trying to raise funds for research and clinical trials for rare disease therapeutics

Despite all these developments, however, approvals for new orphan drugs remain frustratingly low. In a story posted on our blog earlier today (and in the upcoming March issue of Nature Medicine), we note that orphan drug designations are at an all-time high, yet the number given the go ahead by federal regulators lags behind.

In December, researchers reported that an HIV-positive man who was seemingly cured of the disease after receiving a bone marrow transplant from an HIV-resistant donor was still virus-free three years after undergoing the therapy.

And as we reported last year, the initial surprising discovery of this so-called ‘Berlin patient’ had prompted several research teams to devise ways to recapitulate the genetic defect found in the bone marrow donor — a rare mutation in the gene encoding C-C chemokine receptor type 5, or CCR5, a surface protein implicated in HIV infection.

Well, the idea seems to be working. Last week, a California biotech revealed that treating people with enzymes engineered to disrupt the CCR5 gene improved immune function in the majority of HIV-infected subjects who received the experimental treatment.

The therapeutic approach, developed by Sangamo Biosciences, involved a single infusion of ‘zinc finger nuclease’ enzymes directed against CCR5. The therapy was well tolerated, the company announced, and five out of six study subjects showed elevated levels of the specific type of helper T cells that fight off HIV infections.

“These compelling data provide a mechanistic proof of concept for this novel approach to HIV therapy which shows the most promise of any yet tested,” trial investigator Carl June, director of translational research at the Abramson Family Cancer Research Institute at the University of Pennsylvania School of Medicine in Philadelphia, said in a statement. June will present the data on Wednesday at the Conference on Retroviruses and Opportunistic Infections in Boston.

The Scripps Research Institute, famous for its work in areas such as neurodegenerative diseases and autoimmunity, will have a new president next year. Beginning in January 2012, Michael Marletta will succeed current president Richard Lerner, who has led the La Jolla, California-based biomedical research powerhouse for the past 25 years, the institute announced this week.

“The opportunity to go to a place whose prime focus is biomedical research was just too exciting to pass up,” Marletta told Nature Medicine.

Marletta, a biochemist at the University of California–Berkeley who studies the cellular functions of nitric oxide, says that the experience of serving as chair of the university’s chemistry department from 2005 to 2010 inspired him to consider the more prominent administrative role. “While I didn’t enjoy the UC bureaucracy, what I did enjoy was being able to look ahead and create a bit of a vision,” he says.

Once at the helm at Scripps, Marletta plans to maintain a lab of a dozen people while at the same time building up the institute’s research infrastructure and expanding the number of up-and-coming scientists on the faculty. “We’re going to embark on a major fundraising effort that will involve raising funds to hire the next generation of young people to come to Scripps,” he says.

Lerner, who was not involved in choosing his successor, says that Marletta’s research and administrative skills are a good fit for the institute. “Mike will be a very good custodian of the flagship of the place,” he says. In fact, he adds, “I tried to hire him twice before as a research scientist.”

After the leadership handover, Lerner, who oversaw a tripling of the institute’s laboratory space, a four-fold increase in staff levels and Scripps’ expansion into a satellite campus in Palm Beach, Florida, plans to head back to the bench and devote his attention full time to his research into catalytic antibodies and combinatorial antibody libraries.

Image: Michael Barnes, UC–Berkeley

Cross posted from Nature’s The Great Beyond blog.

Mobile phones increase metabolic activity in some parts of the brain during a long telephone call, new research shows. Yet the 47-person study, published today in JAMA, offers no evidence for — or against — the controversial claim that mobile phones may cause brain cancer, its authors and other scientists emphasize.

Studies of brain cancer rates among large numbers of people have been difficult to interpret: Some have found slightly higher rates of brain cancers among cell phone users, others lower rates and many documented no change at all.

Even the studies showing an increased risk of brain cancer for cell phone users can’t say anything about whether mobile phone use causes cancer. But if cell phones could influence brain cancer, there must be a plausible scientific explanation as to how. The new JAMA study represents a toe dipped into the Olympic-size swimming pool that is determining such a mechanism.

Read the rest of the post on The Great Beyond.

Science can be complicated and at times difficult to explain. That’s why, in 2003, the US National Science Foundation and Science magazine launched the International Science and Engineering Visualization Challenge.

“What we are trying to do in this competition is to encourage people to think broadly about how you can bring data to life,” according to Science’s news editor Colin Norman.

In the following video, the 2010 awardees describe their winning entries — announced last week in Science — from the 2010 competition, including an intricately detailed model of HIV and a virtual tour of the mouse brain.

Continue reading →

…because it’s your cup of coffee.

Although advertisers may assure us that America runs on Dunkin’, the more technically minded among us would say that the country runs on caffeine. And scientists say that caffeine does a lot more than get us through the day and keep us awake at night. In fact, there’s so much new science brewing in this area that a new journal devoted to the substance, dubbed the Journal of Caffeine Research, launched this week.

There’s no shortage of studies touting the benefits of caffeine. Last June, scientists at Coventry University in central Britain found that in mice, high amounts of caffeine boosted muscle performance by 6%. And regular coffee drinkers are 65% less likely to experience cognitive decline.

Caffeine-rich energy drinks might be all the rage, but there’s reason to be bullish about caffeine in the lab as well. The compound can help cells churn out about three to eight times as much specially tailored viruses for use in gene therapy, according to a paper published in January.

In the past, physicians expressed concern that excessive use of caffeine-rich drinks could result in serious harm. However, recent studies suggest that moderate coffee drinking even for expectant mothers does not increase the risk of miscarriage or the incidence of birth defects and may actually impart some health benefits.

So drink up while you’re pouring over the new caffeine journal.

Image: Marieke Kuijjer, Flickr