Top Docs 2011
From face transplants to computerized glasses that help blind people “see” to a groundbreaking development in the fight against Lou Gehrig’s disease, here are 14 stunning medical breakthroughs.
Richard Mangino, 65, lost his arms and legs in 2002 after contracting a blood infection from an undetected kidney stone. In October, Bohdan Pomahac supervised a double hand transplant for Mangino. The Revere native can now open and close his fingers. “I look at the other person’s eyes when they see my hands for the first time,” he says. “It’s like they’re looking at magic.”
“It gives you a cold sweat when you’re taking a face off the donor,” Bohdan Pomahac says. He should know. As the head of the plastic surgery transplant team at Brigham and Women’s Hospital, Pomahac this year oversaw three separate procedures in which a patient received a brand-new face. Oh, and he also supervised a transplant that resulted in an amputee getting two new hands.
Pomahac is a man of science, of course, but he gets a little mystical when describing the intricate process. First he has to cut away the donor’s tissue. After the face is removed, it’s transferred to a preservative solution that makes it appear ghostlike. “It’s pale, there is no color in the lips; it’s almost gray,” Pomahac says. “And then we bring it over here to the hospital and connect the vessels that provide the inflow and outflow of blood. That’s the magical moment. You see the blood rushing in, and suddenly a wave of pigment spreads through the face from one side to the other. You can’t believe it’s happening.”
After seeing successful face transplants in Europe, Pomahac became convinced that he could do the procedure here. The biggest challenge, he says, was proving to the hospital that these non-lifesaving surgeries were a worthy endeavor. Yes, the patients may be alive, he argued, but what kind of lives were they living? “There is no functional prosthetic for the face. These are the aspects of human life that we can restore,” he says. And “no matter what prosthesis you have, the hand is not just something that’s mechanical. You want to touch your family or loved ones.”
After convincing the teaching hospital to develop the plastic surgery transplant program, Pomahac had to persuade the transplant-organ community to allow him to harvest donor tissues. He then raised millions of dollars and worked with healthcare providers to get his patients covered for the immunosuppressant drugs they’d need to prevent rejection.
James Maki, 61, suffered disfiguring burns to his face after falling on the T’s electrified third rail in 2005. After the accident, he kept largely to himself, until he saw Bohdan Pomahac on television talking about face transplants. “Right then, I started wondering, Is my face going to be saved because of this?” he now recalls. “I said to myself, There have to be some lucky people in this world.”
Pomahac performed his first partial face transplant on James Maki in 2009. Then, this past March, he oversaw the very first full face transplant ever done in the U.S. He and his team did the procedure on two more patients in April and May. Then in October, Pomahac led the hospital’s first double hand transplant, performed on Richard Mangino, a 65-year-old quadruple amputee who lost his limbs to a blood infection. While his work has drawn international acclaim, Pomahac seems most gratified by what the transplants will do for future clinical research. “We will learn how the brain reintegrates the tissues and relearns how to use parts that were lost,” he explains. “It’s moving forward our knowledge about the human body and physiology,and all that goes along with it.”— Janelle Nanos
The Grow-Your-Own Organ
Need a new heart? Or kidney? Or liver? Within a decade it may be possible to simply give a blood sample and two months later receive a custom-grown organ that’s a perfect match. No waitlist, no possibility of rejection, no drugs. In September, Harald Ott and his organ bioengineering team at Mass General’s Center for Regenerative Medicine managed to transplant a specially grown lung into a rat, which survived for a week. That’s a pretty significant development for the team, which is using a technique called “perfusion decellularization” to customize almost any suitable donor organ and create a patient’s perfect match.
The technique involves “washing” a donor organ of its cells,until it becomes what’s known as a scaffold — a colorless organ blueprint. The scaffold is then placed in a bioreactor and repopulated with the patient’s blood cells, which have been reprogrammed to behave as stem cells. Right now, more than 110,000 people in the United States are on the organ transplant list and have to wait anywhere from six months to several years for an organ. Once they get one, they’re forced to down a costly daily cocktail of immunosuppressants for the rest of their lives to prevent rejection. Though bioengineered organs have yet to get to clinical stages, they have the potential to change the way the entire transplant system works. — Leah Mennies
Of Mice and Man-Made Livers
All hail the lab mouse. Scientists routinely use the critters to test the safety and efficacy of treatments for humans, but unfortunately, because their liver cells act differently than ours, it’s a challenge to use them for testing new drugs. Scientists have tried to work around the problem by injecting human liver cells into mice, but that’s never really worked. So about 90 percent of drug trials fail because of liver toxicity in humans. But all that began to change earlier this year, when MIT doctoral grad Alice Chen figured out how to put a human liver inside a mouse. The 2011 Lemelson Prize winner was trying to create artificial livers for transplant patients when she developed a hydrogel polymer in which human liver cells could thrive. The polymer (which looks like a soft contact lens) can be easily implanted into a healthy mouse, where the cells can then metabolize drugs just as they would in humans. The transplants have a 90 percent success rate, and can be formed and embedded in just two weeks.— Anne Vickman
The End of the Common Cold
It’s the holy grail of medical breakthroughs, and it just may be at hand. We’re talking about the cure for the common cold, and with it the end of influenza, stomach bugs, polio, hemorrhagic fevers, and quite possibly every other viral infection in the world. The miracle compound: double-stranded-RNA-activated caspase oligomerizer — or DRACO, which was announced this summer by Todd Rider and his team at MIT’s Lincoln Labs in Lexington. At heart, DRACO is shockingly simple — just three combined molecules that search the body to find and destroy any cell that dares host a virus. The first molecule helps the group slip in and out of cells; the second detects long strings of double-stranded RNA (the calling card of almost every virus); and the third causes the virus cell to self-destruct. If the drug clears the testing hurdles ahead, this could be it. Bigger than penicillin and, reportedly, with far less chance of resistance. — Shannon Fischer
The city’s biotech community community cranked out a number of promising new treatments this year. Here’s a look at groundbreaking medications for four serious ailments.
Company: Vertex, Cambridge
Incivek represents a less-complicated, more-effective treatment plan for the four million Americans with hepatitis C. The drug works as a protease inhibitor, blocking the proteins that the virus needs to copy itself in the body. Taken three times a day for 12 weeks, it produces recovery times that are twice as fast as previous treatments. It’s estimated that Incivek, which was approved in June, will do $750 million in sales this year.
Company: Biogen Idec, Cambridge
BG-12 is one of the first oral medications for multiple sclerosis, an affliction of the nervous system that affects more than 350,000 Americans. The drug reduces brain inflammation and protects neurons that have been attacked by the disease. In the third stage of clinical trials, it’s been found to reduce the rate of annual relapse in patients by 53 percent. Biogen Idec hopes to submit BG-12 to the FDA for approval next year.
Homozygous Familial Hypercholesterolemia
Company: Genzyme, Cambridge
Those who suffer from this extremely rare genetic disorder are born without the low-density lipoprotein receptors that pull bad cholesterol out of the blood, which can lead to heart attacks by their teens or twenties. Mipomersen blocks production of the protein that bad cholesterol adheres to in the blood, reducing atherosclerosis. In Phase 3 trials, the drug — submitted to the FDA this year — cut patients’ LDL counts by 25 percent.
Advanced Basal Cell Carcinoma
Company: Curis, Lexington
Vismodegib is the first orally administered drug to help treat advanced basal cell carcinoma, the most common skin cancer in the U.S. It works by blocking a common protein that, in rare cases, can mutate and cause the disease. In a second round of trials, it was found to substantially shrink tumors and heal lesions in 43 percent of patients.— J.N.
Closing the Door on the Ebola Virus
In August, two groups of researchers from Brigham and Women’s and the Whitehead Institute identified a cholesterol-transporting protein in our bodies that turns out to be the door through which the Ebola virus enters our cells. “We tested six different strains, and all of them were completely dependent on the protein,” says Brigham and Women’s researcher James Cunningham. Block that door in mice and cell cultures, and there is no infection, no death. It’s very early, but should discovery pan out into therapeutics, it could be the key to stopping a human Ebola infection dead in its tracks.— S.F.