A devastating personal diagnosis led her to become a scientist on the trail of a cure.
Five years ago, Sonia Vallabh graduated from Harvard Law School and went to work at a small consulting company. But a stunning medical diagnosis made her change course completely: she learned she has a genetic mutation that causes a deadly brain disease. Today she and her husband work in a lab at the Broad Institute of MIT and Harvard and have published research showing a possible pathway to a treatment. As she told the tale at an event on precision medicine with President Obama in February:
“At the heart of my story is a single typo in my genome.
“We all carry around thousands of typos in our DNA, most of which don’t matter much to our health—but my typo is an unusually clear-cut case. It’s a single change in a particular gene that causes fatal genetic prion disease, where patients can live 50 healthy years but then suddenly fall into deep dementia and die within a year. And there’s no treatment—at least, not yet.
“In 2010, I watched this disease unfold firsthand. I had just married my husband, Eric Minikel. My mom, healthy at 51, had single-handedly organized our beautiful wedding. Then, all of a sudden, we were watching her waste away before our eyes. We had no name for what we were seeing. It was only from her autopsy that we learned there was a 50 percent chance I’d inherited the genetic mutation that killed her.
“We decided right away I’d get tested. We wanted to know what we were up against. After months in agonizing limbo, a geneticist confirmed our greatest fear: The same change that was found in your mother was found in you.
“Knowing the hard truth has given us a head start against our formidable medical enemy. We waged a campaign to educate ourselves—taking night classes, attending conferences, and eventually taking new jobs in research labs. We retrained as scientists by day and applied what we were learning to understanding my disease by night. Four years later, we’re devoting our lives to developing therapeutics for my disease.
“We know the road ahead is uncertain—no amount of hard work can guarantee there will be a treatment for me when I need one. We are going to do everything we can, hand in hand with creative allies from every sector, to build this bridge as we walk across it and develop a treatment that could save my life, and the lives of many others.”
This doctor can laugh about the complex path he took to becoming an innovator.
“I invented a low-cost ear, nose, and throat—ENT—imaging device. So I call myself the first ENTrepreneur! Sorry—cheesy joke; I’m also an amateur standup comedian. I love performing. It’s how I de-stress. But I also find comedy helps sharpen my observational skills.
“Those skills helped me invent Entraview, which has helped 200,000 patients. As a trainee doctor I saw many farmers with advanced throat cancer. I discovered that expensive imaging systems were only available in major cities, so rural doctors relied on outdated mirrors and headlamps. I asked my boss why no one had tried attaching endoscopes to small off-the-shelf cameras. He said, ‘Why don’t you?’
“Entraview was a big learning curve for me. I worked with a design firm but got too involved trying to create a one-size-fits-all device. I’d nearly exhausted my funds when my boss said, ‘Go learn the right way to do this.’
“The Stanford-India Biodesign program teaches Indian doctors and engineers how to invent. Their process showed me where I’d gone wrong and gave me the connections to arrange a pitch with Medtronic. We simplified and focused on ears. Not the original goal, but the path of least resistance to market, and now the platform can evolve.
“I’ve since contributed to 18 medical-device inventions, and I’m now clinical lead at a med-tech incubator, InnAccel, where I help multiple startups while still practicing medicine, to keep me grounded with clinical needs.
“India imports 75 percent of its medical tech. We have great inventors, but most make the same mistakes because they don’t get the innovation process. The first step is finding the right team.”
—as told to Edd Gent
If you want to be the life of the party, practice by talking to a machine first.
Can computers teach us to be our best selves? Ehsan Hoque, a researcher at the University of Rochester, believes so. He has created two computer systems that train people to excel in social settings.
One program has a virtual businesswoman that can recognize your expressions and statements so she can nod, smile, and prompt you with further questions as you chat with her. At the end of the conversation she’ll give you feedback about your interpersonal performance, including your body language, intonation, and eye contact.
Hoque also designed a pared-down mobile version, free for anyone with Internet access to use. There’s no animated character; instead, it records video and sends you a write-up about your social skills, noting the speed of your speech, the pitch and loudness of your voice, the intensity of your smiles, and whether you overused certain words.
All of Hoque’s research comes back to his brother, a teenager with Down syndrome. Hoque is his brother’s primary caretaker and has seen how difficult social interactions of any kind can be for him, especially in school. But Hoque hopes his tools will be useful to all kinds of people—individuals with Asperger’s, customer service representatives, nervous students with looming class presentations, or even just someone gearing up for a date or an interview.
A researcher in drought-ridden California tries to better account for the ways we use water.
Just about all power plants use water in some way—primarily for cooling. In fact, generating electricity accounts for about 40 percent of all the fresh water that is drawn from reservoirs, rivers, and other surface sources in the United States. Kelly Sanders, an assistant professor of civil and environmental engineering at the University of Southern California, has developed new methods of analyzing the complex relationship of water and energy—and is showing how both resources can be managed more wisely.
Although power plants typically return water to the source after it runs through cooling systems, those withdrawals and returns can be disruptive to the environment. Many newer coal and natural-gas plants reuse water in their cooling systems so they do not need to withdraw as much of it from reservoirs and rivers, but in the process they lose more water to evaporation. And that means, as Sanders has highlighted, that many newer plants end up consuming more water overall. She also looks carefully at the water individual nuclear power plants use to keep from overheating and causing a meltdown. If the water source gets too warm and must cool down before it can be used, forcing the power station to scale back production, are the costs of the plant being miscalculated?
Having reframed how we measure water and energy usage, Sanders is becoming influential in policy and planning. She briefed Congress as it considered the Nexus of Energy and Water for Sustainability Act, which takes initial steps to have the federal government measure water usage not just in gallons but also in units of energy. “We select our power based on price,” she says, “but how do we define what’s cheap?”
A mobile app gives deaf people a sign-language interpreter they can take anywhere.
A deaf person walks into a bar. That isn’t the beginning of a joke, but a potentially frustrating situation—unless the bartender happens to know sign language. That’s where Hand Talk comes in. It translates spoken words into sign language that an avatar then conveys on a smartphone screen.
For now, Hand Talk can only translate Portuguese into Libras, the sign language used in Brazil—the home of the program’s creator, Ronaldo Tenório. But Brazil alone has at least 10 million deaf people, one million of whom have downloaded Hand Talk’s mobile app.
The users hold up their smartphone to a hearing person, who sees a message on the screen that says “Speak to translate.” As soon as the person starts talking, an animated avatar named Hugo begins signing.
Turning the audio into animations of gestures requires laborious programming because everything has to be exactly right, all the way down to Hugo’s facial expressions, which also carry meaning in sign language. Tenório and his team feed their program thousands of example sentences every month and match them with 3-D animations of sign language. They constantly push these improvements out through app updates.
Tenório plans to roll out different versions of the avatar in the future so users can switch the gender or race of their Hugo in an effort to broaden the appeal and accessibility of having a virtual translator in one’s pocket.