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Mutation

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By Natalie Angier and Natalie Angier,New York Times News Service | November 30, 1990
Researchers have discovered an inborn genetic mutation that strongly predisposes people to breast cancer and at least six other malignancies.Although mutations for several rare childhood cancers have been identified, the new finding is the first detection of an inborn mutation that helps cause one of the biggest cancer killers of adults.Thus far, the mutation has only been analyzed in a specific hereditary cancer syndrome that afflicts a few hundred families around the world. But scientists believe that the genetic error could play a role in other instances of breast cancer, particularly in those families where more than one woman is afflicted, or when a woman contracts the tumor under the age of 35.The inherited mutation could also explain clusters of other types of cancer seen in families.
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HEALTH
By Meredith Cohn | July 30, 2014
A blood test that monitors changes in one specific gene may someday allow doctors to predict those likely to attempt suicide. Researchers at Johns Hopkins University identified a chemical alteration linked to stress reactions and plan more studies. Monitoring blood could some day help doctors more easily determine if intervention is necessary for service members returning home or the needs of those seeking psychiatric care. And blood tests could also be used to identify people who can't tolerate certain medications that lead to suicidal thoughts.
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NEWS
By Jonathan Bor and Jonathan Bor,Sun reporter | December 26, 2007
A gene mutation strongly identified with Jewish breast cancer patients has also turned up in a small but significant percentage of Hispanic patients, scientists are reporting today. In their study of more than 3,000 women with the disease, scientists also found a surprisingly high prevalence among young black women with breast cancer. The finding has led some oncologists to suggest genetic screening for patients of different ethnic groups, because carriers have a greater chance of recurrence and can pass that risk to their daughters.
HEALTH
By Andrea K. Walker, The Baltimore Sun | May 14, 2013
Actress Angelina Jolie's decision to have a double mastectomy rather than risk developing breast cancer hit close to home for Melissa DeSantis, a Bel Air mother of three children. As DeSantis read about Jolie's experience, she began to feel a sense of kinship to the Hollywood star. DeSantis also made the tough decision to have her breasts removed in a February surgery. Like Jolie, she had one of the inherited gene mutations that leaves many women more likely to develop cancer.
NEWS
By Jamie Talan and Jamie Talan,NEWSDAY | January 18, 2005
Scientists have discovered a new gene mutation that could account for Parkinson's disease in as many as 10,000 Americans. The finding, confirmed in a series of studies published today in the online version of the British journal Lancet, could lead to the first genetic test for the disabling movement disorder, as well as a new generation of medicines. "This is the most common genetic mutation identified in Parkinson's," said William Nichols of Cincinnati Children's Hospital Medical Center, co-author of one study.
NEWS
By Jonathan Bor and Jonathan Bor,SUN STAFF | November 15, 1995
Heart specialists at the University of Maryland Medical Center have identified the largest family known to carry a genetic mutation responsible for low levels of "good cholesterol." The defect predisposes relatives to heart attacks at an early age.The mutation is so powerful that one family member, a woman in Circleville, Ohio, required quadruple bypass surgery at age 40. Her brother, a New Jersey welder, needed angioplasty at 35."I was extremely tired, and had a tightness and burning in the chest," Rebecca Amerine, a finisher in an Ohio plastics factory, said of the symptoms that alerted doctors to her problem.
NEWS
By Frank D. Roylance and Frank D. Roylance,SUN STAFF | September 4, 1996
Life can go two ways when you're born with six legs.You can become a snack for snakes, or some biologist can plop you into a glass bowl and feed you to the news media.It was the second fate that befell a little mutant green frog from Riverside, in Harford County, over the holiday weekend. She now resides in a walk-in cooler at Towson State University, the ward of TSU herpetologist Don C. Forester."She looks very healthy," he said yesterday as the frog -- no bigger than a half-dollar -- hopped up his arm with all four hind legs in motion for the camera.
NEWS
By NICOLE FULLER and NICOLE FULLER,SUN REPORTER | January 13, 2006
Three students from area high schools have been named semifinalists in a prestigious national science competition. The students - all 17-year-old seniors - are Myers Abraham Davis and Owen Forgione Hill, both at Polytechnic Institute in Baltimore, and Jeffrey Chunlong Xing at River Hill High in Clarksville. They each won a $1,000 prize in the annual Intel Science Talent Search, with a matching sum going to their schools. "It takes an extraordinary young person, somebody who's focused on a particular goal and inspired to do something.
NEWS
By Michael Stroh and Michael Stroh,Sun Reporter | October 27, 2006
An international scientific team, including a group from the Johns Hopkins University, has pinpointed an unexpected gene mutation that appears to confer protection against Crohn's disease in some patients. The finding potentially paves the way for new diagnostic tools and drugs to treat the debilitating intestinal condition, which affects more than 500,000 people in the U.S. "This is an exciting piece of work," said Dr. Scott Snapper, a Crohn's disease researcher at Massachusetts General Hospital in Boston who was not involved in the study.
NEWS
By Douglas Birch and Douglas Birch,Sun Staff Writer | August 10, 1995
Johns Hopkins University researchers have found the first genetic mutation linked to a common form of human obesity, the best evidence yet that while some may achieve chubbiness, others have it thrust upon them.In an article in today's New England Journal of Medicine, the researchers report that the mutation appears to speed up the development of diabetes and to encourage the kind of midriff bulge that raises the risk of heart disease.Only some people who carry the defective gene are obese, defined as being more than 20 percent heftier than your ideal weight.
HEALTH
By Meredith Cohn | January 11, 2012
Researchers at Johns Hopkins and the University of Michigan have discovered an inherited mutation linked to significantly higher risk of prostate cancer development at a younger age. The discovery, after two decades of looking, provides insight into the disease development. And though those with the mutation comprise just a fraction of the 240,000 new cases diagnosed annually, the discovery could also help doctors determine who needs earlier screening. The discovery is the first major genetic variant found for inherited prostate cancer, said Dr. Kathleen A. Cooney, professor of internal medicine and urology at the Michigan Medical School and a senior author of the study, which was published in the New England Journal of Medicine . The study found that those with a family history of prostate cancer were much more likely to have the mutation, and that gave them a 10-20 higher risk of developing the disease themselves.
HEALTH
By Andrea K. Walker, The Baltimore Sun | December 29, 2011
Johns Hopkins researchers, in the largest study to date, will map the genetic code for asthma in people of African descent in hopes of better understanding why the disease and other allergy-related ailments disproportionately afflict that population. Until now, the link between genetics and asthma has been studied using mostly men and women of white European descent. The Hopkins researchers announced Thursday that they will leverage data from other genome projects to take the first wide-scale look at how hereditary factors affect African-Americans who have the disease, which causes wheezing and difficulty breathing, and which can lead to death if not treated.
NEWS
By Kelly Brewington and Kelly Brewington , kelly.brewington@baltsun.com | December 3, 2009
A mutated strain resistant to the most commonly prescribed drug used to treat swine flu has surfaced in Baltimore, raising concern among experts that the virus could become harder to treat. The cases of two cancer patients at Johns Hopkins Hospital who contracted the mutated strain are the first involving Tamiflu-resistant H1N1 in Maryland and are among 75 worldwide. Health officials, noting that the Hopkins patients recovered, say there is no cause for alarm because the cases are isolated and have not spread.
NEWS
By Kelly Brewington and Kelly Brewington,kelly.brewington@baltsun.com | July 23, 2009
In a race to stave off an unusually dangerous flu season, scientists at the University of Maryland and seven other universities in the U.S. will begin testing a swine flu vaccine in adults and children within the next few weeks - the first step in what could be a mass vaccination campaign. The trials, which will test the vaccines of two manufacturers, mark the launch of an aggressive government timetable to have inoculations ready for as many as 200 million Americans, including 2 million Marylanders, by mid-October.
NEWS
By Karen Kaplan and Karen Kaplan,Los Angeles Times | February 8, 2009
Blue eyes are typically associated with beauty, or perhaps Frank Sinatra. But to University of Wisconsin anthropologist John Hawks, they represent an evolutionary mystery. For nearly all of human history, everyone in the world had brown eyes. Then, between 6,000 and 10,000 years ago, the first blue-eyed baby was born somewhere near the Black Sea. For some reason, that baby's descendants gained a 5 percent evolutionary advantage over their brown-eyed competitors, and today the number of people with blue eyes tops half a billion.
NEWS
By New York Times News Service | November 6, 2008
For the first time, researchers have decoded all the genes of a person with cancer and found a set of mutations that may have caused the disease or aided its progression. Using cells donated by a woman in her 50s who died of leukemia, the scientists sequenced all the DNA from her cancer cells and compared it with the DNA from her normal, healthy skin cells. Then, they zeroed in on 10 mutations that occurred only in the cancer cells, apparently spurring abnormal growth, preventing the cells from suppressing that growth and enabling them to fight off chemotherapy.
NEWS
By Douglas M. Birch and Douglas M. Birch,SUN NATIONAL STAFF | August 26, 1997
In what the nation's chief of gene research is calling a landmark discovery, Johns Hopkins scientists say they have found a genetic mutation that causes one of the most common forms of cancer.And they've developed a test that, they say, could help save tens of thousands of lives.Dr. Bert Vogelstein said yesterday that he and two other researchers have identified a genetic mutation, shared by about 700,000 Jews of European descent, that appears to cause a common disease called familial colorectal cancer.
NEWS
By Thomas H. Maugh II and Thomas H. Maugh II,LOS ANGELES TIMES | April 30, 2004
Researchers stepped closer toward the long-sought goal of tailoring cancer therapy to individuals, identifying a genetic defect that predicts response to a new drug called Iressa. Two studies reported today indicate that about 15 percent of the 170,000 Americans who develop lung cancer each year have a specific genetic mutation that correlates with a potent, life-prolonging response to Iressa. Those without the mutation receive no benefit from the drug and can be spared the $2,000 to $3,000 per month cost of treatment.
NEWS
By Judith Graham and Judith Graham,Chicago Tribune | September 15, 2008
CHICAGO - In the high-profile world of breast cancer advocacy, women with a hereditary predisposition to the disease often feel overlooked. That's why it meant so much when actress Christina Applegate acknowledged last month that she has a genetic mutation known as BRCA1 linked to breast and ovarian cancer. Applegate, 36, went further, disclosing that she had had both breasts surgically removed. The actress' mother has battled cancer twice and "I just wanted to kind of be rid of it," she said on Good Morning America.
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