But what’s truly remarkable is that her work represents just one front of a broad revolution in genetics sparked by the technique called CRISPR-Cas9. Just four years old, this discovery is transforming research into how to treat disease, what we eat and how we’ll generate electricity, fuel our cars and even save endangered species. Experts believe that CRISPR can be used to reprogram the cells not just in humans but also in plants, insects–practically any piece of DNA on the planet. On June 2, a scientist at MIT and Harvard’s Broad Institute announced the development of a related CRISPR technique that can edit RNA, which is responsible for regulation and expression of genes. If DNA is the genetic alphabet, RNA spells actual words. In plain terms, that means the already vast possibilities for CRISPR got even bigger.
Austin Burt, a professor of evolutionary genetics at Imperial College and the developer of the technology, didn’t set out to commit mosquito genocide. “Our target is malaria, not mosquitoes,” he says. “Mosquitoes are a means to an end.” But once unleashed, Burt’s mosquitoes have no kill switch. They will carry out their mission until there are no females left. To some experts, it’s a small sacrifice. But others worry about the implications of leaving a biological niche empty.
That concern is part of what drove Anthony James, a molecular biologist at the University of California, Irvine, to take a different tack. He’s working to make mosquitoes incapable of carrying malaria and, eventually, other pathogens like Zika. This technique leaves the mosquitoes in place while disarming them. “Nobody likes mosquitoes, but you can live with them if they are not giving you disease,” he says. “Better to fix the ones you have than deal with whoever comes along next.”
They compared a number of varieties of roses, some exuding lots of scent and others producing none. They found that a protein called nudix hydrolase RhNUDX1 in the cytoplasm of petal cells was present in scent-producing flowers and absent in those with no smell. It turns out that the gene responsible for building the protein was turned on in scented flowers and turned off in the others. The group was able to conclude that RhNUDX1 encodes a key part of the pathway that produces the small volatile molecules, called monoterpenes, which make up 70 percent of some rose cultivars’ smell.
“We saw that every time this gene was expressed highly, the rose was making these monoterpene molecules,” she said. “We were really surprised about this.”
Along with the possibility of modifying the plant to make the smell-producing gene work again, the team’s work can also be used as a marker for breeders to tell them which cultivars will produce scented roses before they even grow flower buds.
Called Baseline Study, the project will collect anonymous genetic and molecular information from 175 people—and later thousands more—to create what the company hopes will be the fullest picture of what a healthy human being should be.
The project will collect anonymous genetic and molecular information from 175 people. Getty Images
The early-stage project is run by Andrew Conrad, a 50-year-old molecular biologist who pioneered cheap, high-volume tests for HIV in blood-plasma donations.
Dr. Conrad joined Google X—the company's research arm—in March 2013, and he has built a team of about 70-to-100 experts from fields including physiology, biochemistry, optics, imaging and molecular biology.
Cleveland Clinic tested the program in 2012 and now provides MyFamily to a growing number of patients, including many of its own employees, in its primary-care practices and some cancer programs. The clinic is discussing licensing the program to other providers and is also making a brief version of the MyFamily questionnaire and tips available free online to the public at clevelandclinic.org/family.
Other health-history gathering tools are also available online, including My Family Health Portrait developed by the Centers for Disease Control and Prevention and the Surgeon General's office, and Does It Run in the Family? from the nonprofit Genetic Alliance'sfamilyhealthhistory.org website.
“It will no longer be just a research tool; reading all of your DNA (rather than looking at just certain genes) will soon be cheap enough to be used regularly for pinpointing medical problems and identifying treatments. This will be an enormous business, and one company dominates it: Illumina. The San Diego–based company sells everything from sequencing machines that identify each nucleotide in DNA to software and services that analyze the data. In the coming age of genomic medicine, Illumina is poised to be what Intel was to the PC era—the dominant supplier of the fundamental technology.
Illumina already held 70 percent of the market for genome-sequencing machines when it made a landmark announcement in January: using 10 of its latest machines in parallel makes it feasible to read a person’s genome for $1,000, long considered a crucial threshold for moving sequencing into clinical applications. Medical research stands to benefit as well. More researchers will have the ability to do large-scale studies that could lead to more precise understanding of diseases and help usher in truly personalized medicine.
It’s a far more complex field than genomics, studying how proteins
are structured and expressed, how they change and communicate. When you
tie genome sequencing to proteome sequencing, it adds billions of data
points across millions of patients. That’s both good and bad.
With a fire hose of information that big, you can develop better
drugs and look for better biomarkers: anything in a patient’s blood,
urine or saliva—from proteins to enzymes to red-cell count—that
indicates the presence of a disease. But fire hoses are hard to handle,
and that’s where Big Data comes in.
The combination of massive computer power and sophisticated
algorithms that can manage staggeringly complex problems—from predicting
precisely where a tornado will touch down to making your Web search
more efficient—is the next great wave of data processing. Companies like
Roche, Illumina, Life Technologies, Pronota and Proteome Sciences are
expanding their bioinformatics platforms to develop new diagnostics and
new drugs based on them. Sometimes a diagnostic and a drug are developed
in tandem, a model known as Dx/Rx. These new proteomic-derived agents
are designed to target everything from sepsis to Alzheimer’s disease to
cancer and offer the opportunity to deliver bespoke medicine, tailored
to your molecular structure. It’s Savile Row biology.
Archaeologists announced Feb. 4 that bones excavated from underneath a parking lot in Leicester, "beyond reasonable doubt," belong to the medieval king. Archaeologists announced the discovery of the skeleton in September. They suspected then they might have Richard III on their hands because the skeleton showed signs of the spinal disorder scoliosis, which Richard III likely had, and because battle wounds on the bones matched accounts of Richard III's death in the War of the Roses.
To confirm the hunch, however, researchers at the University of Leicester conducted a series of tests, including extracting DNA from the teeth and a bone for comparison with Michael Ibsen, a modern-day descendant of Richard III's sister Anne of York.
Indeed, the researchers found the genetics matched up between Ibsen and that from the skeleton. "The DNA remains points to these being the remains of Richard III," University of Leicester genetics expert Turi King said during a press briefing.
(Caroline Wilkinson, professor of craniofacial identification at the University of Dundee) used a scientific approach to determine the king's facial features from his skull. She then created a model using 3D printing technology.
The model was painted and completed by Janice Aitken, a lecturer at the University of Dundee's Duncan of Jordanstone College of Art & Design, who said she drew on her experience in portrait painting.
The mapping of the human genome, completed in 2003, cost $2.7 billion. Now the cost for an individual's whole-genome sequencing (WGS) is $7,500 and falling fast. One day WGS could be as easy to get as a pregnancy test at the drugstore. To do the testing, lab technicians need less than a teaspoon of blood, which is chemically treated to burst open the cells so the DNA inside them can be collected. Those microscopic strands are then fed into sophisticated machines that read each of the 3 billion bits of information, called base pairs, that make up a person's genetic alphabet. Computers scan the data for the equivalent of spelling mistakes. Some mistakes cause disease; others don't. And in between is a vast gray area where scientists just don't know what the changes mean.
In an ideal world, genetic analysis could save money by catching diseases early, offering targeted treatments and identifying the most effective preventive measures. Dr. Katrina Armstrong, a professor at the University of Pennsylvania School of Medicine, notes that testing 21 genes could reveal which breast-cancer patients are unlikely to benefit from a particular chemotherapy--knowledge that could spare women the treatment and save $400 million each year. "If genomics can help us understand who will get the most benefit and who will get little or no benefit from an intervention," Armstrong says, "it will take us a long way toward improving patient outcomes and saving money.