Mary-Claire King recibió el premio Albert and Mary Lasker Foundation

08.09.2014
El pasado lunes se entregó el premio Albert and Mary Lasker Foundation tambien, llamado como el "Nobel Americano" en ciencias medicas. Una de las galardonadas fue la científica Mary-Claire King por ser una científica atrevida e imaginativa además de sus logros en la lucha por los derechos humanos.

La Fundación Albert y Mary Lasker anunció a lxs cinco ganadorxs de los prestigiosos Premios Lasker 2014 por su trabajo y descubrimientos sobre el cáncer de mama, la enfermedad de Parkinson y el procesamiento de proteínas defectuosas. Una de las galardonadas fue la reconocida genetista estadounidense Mary-Claire King, quien recibió el Premio al Logro Especial en Ciencias Médicas.

Mary-Claire King fue distinguida por sus diversas contribuciones a la medicina y a los derechos humanos. A través de sus investigaciones, identificó el gen BRCA1, que aumenta el riesgo de heredar el cáncer de mama si experimenta una mutación. Esto permitió aislar el gen e identificar a las mujeres que heredan una versión mutada para poder ser tratadas. Pero además y fundamentalmente, King empleó su experiencia para ayudar a recuperar la identidad de, a la fecha, 115 niñxs secuestradxs o nacidxs en cautiverio durante la última dictadura militar argentina.

En 1982, el Dr. Víctor Penchaszadeh, médico genetista exiliado en ese entonces en Estados Unidos, se contactó con Mary-Claire King con el objetivo de adaptar las fórmulas estadístico-matemáticas que se usaban para las pruebas de paternidad y probar la identidad de niñxs cuyos padres estaban desaparecidos contando solo con abuelxs y otros parientes colaterales. King, junto a un equipo de investigadorxs, logró llegar a lo que luego se conocería como “índice de abuelidad”, un procedimiento científico que permitiría determinar la filiación de un niñx en ausencia de sus padres mediante el análisis de material genético de sus abuelos y abuelas. Este descubrimiento fue clave para la conformación y el trabajo que en Argentina lleva adelante el Banco Nacional de Datos Genéticos (BNDG) para la identificación de lxs hijxs de desaparecidos en nuestro país.

Cabe destacar que en 2012 Mary-Claire King recibió el Premio Federico Leloir a la Cooperación Internacional en Ciencia, Tecnología e Innovación por haber contribuido significativamente a promover y afianzar la cooperación en esas áreas. Además, ese mismo año fue designada Doctora “Honoris Causa” por la Facultad de Ciencias Exactas, Físicas y Naturales de la Universidad de Buenos Aires por sus logros alcanzados.

Lxs otrxs premiadxs por la Fundación Albert y Mary Lasker fueron Kazutoshi Mori y Peter Walter, en Investigación Médica Básica; y Alim Louis Benabis y Mahlon R. DeLong en Investigación Médica. Los premios se entregarán el próximo viernes 19 en la ciudad de Nueva York, Estados Unidos.

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The Albert and Mary Lasker Foundation awards — often called the “American Nobels” in medical science — were announced Monday morning, and one of the winners used the spotlight to call for dramatically widening the use of genetic screening for breast and ovarian cancer.

The recipient, Mary-Claire King, 68, of the University of Washington in Seattle, is one of five scientists being honored; she won the special achievement award for “bold, imaginative” scientific and human rights accomplishments.

Dr. King discovered BRCA1, a gene that in a mutated form increases vulnerability tobreast cancer. In a separate branch of her research, she developed and used DNA strategies to reunite missing persons with their families of origin.

Her proposal on Monday, summarized in an article for The Journal of the American Medical Association that was timed to coincide with the Lasker announcement, calls for screening all American woman 30 or older for cancer-causing genetic mutations, regardless of their race or ethnic background.

That would be a radical departure from current guidelines, which discourage screening for these mutations unless a woman either already has a diagnosis of cancer or has a clear family history of breast and ovarian cancer.

“We recommend that every woman in America of any race or ancestry be offered this opportunity when she’s in the midst of childbearing or beginning childbearing,” Dr. King said in an interview. “You only need to be tested once, and the vast majority of women will not have a mutation and can go about their life. The actual cost is minimal.

“But women who do learn they have a mutation that’s comparable to Angelina Jolie’s and confers very high risk can begin to think about what that means and be referred to a high-risk clinic” to develop a prevention plan, she said.

A common recommendation is to have the ovaries removed by age 40, because ovarian cancer is difficult to diagnose early and, also, removing the ovaries may reduce the risk of breast cancer.

Several experts in the field called the proposal a “provocative,” and some said they wanted to see more evidence that a healthy woman with a genetic mutation but no breast or ovarian cancer in her family is at high risk for the diseases.

But Michael Watson, executive director of the American College of Medical Genetics, said medicine was already “rapidly moving” toward genetic screening in healthy patients, though there are “still gaps in our system to be able to do that effectively.”

Patients must have good counseling about the potential benefits and drawbacks of testing, and how to evaluate risks that are based on percentages, experts said. Many expressed concern about the costs and the potential harm of the tests, including psychological effects, stigma and discrimination.

Dr. King estimated that the first round of universal screening of all women 30 and older would identify 250,000 to 400,000 American women with harmful mutations in BRCA1 or a second gene, BRCA2.

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Critics may object that “women aren’t ready for this,” she said. But she argued: “Why should women be protected from information that will empower them and allow them to control their lives? We don’t need that kind of protection.”

She added, though, that women should not be told about other rare mutations whose significance is unknown.

Dr. King became interested in genetics while doing graduate work in statistics at the University of California, Berkeley, in the late 1960s, She took a genetics course and realized that mathematics held a key to solving a number of biological puzzles. In 1974, when few scientists believed that inherited breast cancer could be linked to a single mutated gene, and years before other scientists developed high-speed automated techniques to analyze the molecular sequences now used to identify such mutations, Dr. King relied on her mathematical knowledge to hunt for a hypothetical breast cancer gene. 

She analyzed data from more than 1,500 families in which women received new diagnoses of breast cancer at age 55 or younger. She concluded that 4 percent of the families carried a single mutant gene that predisposes both women and men to the cancer even without environmental exposures or lifestyle risk factors. 

Then she analyzed the DNA of 329 relatives in 23 families with 146 cases of invasive breast cancer. By 1990, after testing 173 markers in a technique known as linkage analysis, she focused on a section of Chromosome 17 as the likely area to contain the normal BRCA1 gene. Later, other scientists isolated the mutated BRCA1 gene and identified BRCA2.

In 1984, responding to pleas from grandmothers in Argentina, Dr. King turned her attention to the “lost children” who had been kidnapped or born while their mothers were imprisoned during the nation’s “dirty war” in the late 1970s and early ’80s. 

Using a technique designed to match potential donors and recipients for organ transplants, she was able to prove genetic relationships between some of the children and their biological families. She also analyzed mitochondrial DNA, which passes from mother to child, to help reunite more than 100 children with their families. 

Further use of the genetic techniques has identified the remains of victims of natural disasters and the attacks of Sept. 11, 2001; and American service members missing in conflicts dating to World War II, one of them buried in the Tomb of the Unknowns at Arlington National Cemetery.

Since 1942, when the Lasker awards began, 86 laureates have also won Nobel Prizes. The awards — $250,000 for each of three categories — will be presented at a luncheon in Manhattan on Sept. 19.

These are the other winners:

CLINICAL MEDICAL RESEARCH Alim Louis Benabid, 72, of the Joseph Fourier University in Grenoble, France, and Dr. Mahlon Robert DeLong, 76, of Emory University in Atlanta, for developing a brain surgery technique to relieve the symptoms of advanced Parkinson’s disease.

Efforts to combat Parkinson’s with surgery go back to the 1940s, when doctors went so far as to destroy parts of patients’ brains, sometimes with spectacular results. But those operations were hit or miss, and they fell out of favor with the rise of the Parkinson’s drug L-dopa.

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By contrast, Dr. Benabid and Dr. DeLong, working independently, were able to develop a sharply focused technique, called deep brain stimulation of the subthalamic nucleus, that can supplement the drug therapy.

The discoveries took a winding scientific path.

Beginning in the 1960s, Dr. DeLong inserted tiny electrodes into monkeys’ basal ganglia to see how specific neurons in that brain region affected their movements.

Then, in the 1980s, he discovered that a chemical called MPTP, blamed in the deaths of addicts using a type of synthetic heroin, could be used to benefit Parkinson’s research.

He gave the chemical to monkeys to produce Parkinson’s-like tremors and tight muscles. Then he found that another chemical, ibotenate, rapidly reduced those symptoms by inactivating a part of the basal ganglia called the subthalamic nucleus. Still other experiments, in patients without Parkinson’s, unexpectedly showed that high-frequency stimulation of the nucleus eased tremors.

After reading Dr. DeLong’s work, Dr. Benabid focused on stimulating the subthalamic nucleus in both sides of the brain. He went on to adapt a device that had been marketed for pain relief to deliver constant stimulation deep in the brains of Parkinson’s patients.

Since 2002, when the United States Food and Drug Administration approved the method for advanced Parkinson’s, it has benefited more than 100,000 patients around the world.

In 2009, the F.D.A. approved the technique for obsessive-compulsive disorder, and investigators are exploring its use to treat drug-resistant depression and dystonia, the neurological disorder characterized by involuntary muscle contractions.

BASIC MEDICAL RESEARCH Kazutoshi Mori, 56, of Kyoto University in Japan, and Peter Walter, 59, of the University of California, San Francisco, for discoveries concerning a cellular quality-control system that protects the body against potentially harmful proteins.

Proteins must conform to precise three-dimensional shapes to carry out their tasks. Within the cells, an organelle called the endoplasmic reticulum sorts proteins to screen out those that are misshapen, or “misfolded.”

Beginning in the late 1980s, the two molecular scientists set out independently to decipher the process. Dr. Mori worked for more than four years at the University of Texas Southwestern Medical Center and in Japan; Dr. Walker, born in West Berlin, worked at Vanderbilt University and Rockefeller University before moving to San Francisco.

After studying proteins in yeast and humans, they found that misfolded proteins lead to release of a portion of a protein called ATF6 in the cell’s wall, or membrane. The freed fragment finds its way to the cell’s nucleus and activates genes to repair misfolded proteins.

Their efforts are helping scientists unravel secrets about some inherited diseases, including cystic fibrosis, the eyesight ailment retinitis pigmentosa and certain kinds of elevated cholesterol.

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