November 2, 2011 |
All her life, Lindsay Shipp knew that she was dying. As a baby, she would cry after eating, and salt collected on her forehead. The diagnosis was cystic fibrosis, an incurable genetic disease that, at the time, meant a life expectancy of 18 years. The disease, which affects 30,000 people in the United States, hinders the movement of salt in the body. Because of this, the pancreas fails soon after birth, patients cannot properly digest food, and their airways fill with mucus, leaving them vulnerable to lung infections and other problems.
October 12, 2011 |
Having mutations in the BRCA1 or BRCA2 genes lead to a higher risk of breast and ovarian cancers in women, but the mutations don't affect health outcomes in exactly the same way. A team led by researchers from the University of Texas M.D. Anderson Cancer Center in Houston reported Tuesday that having a mutated BRCA2 gene was associated with improved survival and chemotherapy response among a group of women with ovarian cancer. In fact, women with BRCA2 mutations had better survival after treatment than women without mutations on either gene, the group wrote in a study published in JAMA, the Journal of the American Medical Assn.
September 13, 2011 |
Women who inherit gene mutations that increase their likelihood of getting breast cancer now face an added worry: They may be prone to developing the disease earlier in life than their mothers and aunts did. The discovery, by a team at the University of Texas M.D. Anderson Cancer Center in Houston, was reported Monday in the journal Cancer. Harmful mutations in the BRCA 1 and BRCA 2 genes dramatically increase a woman's chance of developing breast and/orovarian cancer, according to this fact sheet from the National Cancer Institute. About 60% of women with a harmful mutation in BRCA 1 or BRCA 2 will develop breast cancer sometime during their lives. In the general population, about 12%of women will. BRCA mutations are responsible for 5% to 10% of breast cancer diagnoses.
July 25, 2011 |
A genetic technique that allows the body to work around a crucial mutation that causes Duchenne muscular dystrophy increased the mass and function of muscles in a small group of patients with the devastating disease, paving the way for larger clinical trials of the drug. The study in a handful of boys age 5 to 15 showed that patients receiving the highest level of the drug, called AVI-4658 or eteplirsen, had a significant increase in production of a missing protein and increases in muscle fibers.
June 9, 2011 |
Autism is not caused by one or two gene defects but probably by hundreds of different mutations, many of which arise spontaneously, according to research that examined the genetic underpinnings of the disorder in more than 1,000 families. The findings, reported in three studies published Wednesday in the journal Neuron, cast autism disorders as genetically very complex, involving many potential changes in DNA that may produce, essentially, different forms of autism. The affected genes, however, appear to be part of a large network involved in controlling the development of synapses, the critical junctions between nerve cells that allow them to communicate, according to one of the three studies.
June 8, 2011 |
Autism spectrum disorders can be caused by as many as 300 or so rare genetic mutations, scientists reported Wednesday. The research strongly implicates genetics, including spontaneous gene mutations, in the development of the disorder. But why do four times as many males as females develop autism spectrum disorder? In one of the three papers published in the journal Neuron , researchers suggest that girls are more resistant to gene mutations than boys. Girls seem to require a higher number of gene mutations to become afflicted with autism spectrum disorder.
June 5, 2011 |
An experimental drug called crizotinib sharply increases survival in lung cancer patients with a specific genetic mutation, researchers said Sunday. Although only about 4% of lung cancer patients carry the mutation, that still amounts to about 50,000 people worldwide, experts said. Researchers hope that other new drugs targeted at different mutations will be also developed and that combinations of such targeted drugs will prove even more effective in lung cancer. Lung cancer is the second-most-common form of cancer in the United States and the biggest cancer killer among both men and women, with 371,000 cases diagnosed each year and 159,000 deaths.
June 4, 2011 |
In the new movie "X-Men: First Class," a group of normal-looking people with some highly unusual traits wonder if the world will embrace them. The studio behind the film, 20th Century Fox, is facing a similar question. Although the fifth installment in the franchise about superhero mutants resembles many of Hollywood's summer offerings — a big-budget action movie based on a popular comic book series — the latest "X-Men" is a vastly different creature that presents some unique marketing challenges.
June 1, 2011 |
To gauge a patient's risk for disease, doctors often look at blood levels of certain proteins or at other "biomarkers" — cholesterol to gauge heart risk, say, or bone density for fracture risk. And every day, more biomarkers are found, and are often described in the news with much fanfare. But a study published Tuesday casts serious doubt on the predictive value of many of them. After reviewing 35 widely cited research reports linking a substance to a disease, the study's authors found that about 85% of the time, the strength of those links didn't hold up when larger, follow-up studies were done.
April 16, 2011 |
During the Industrial Revolution in 19th century England, black moths started appearing — because they blended in better on pollution-darkened tree trunks than did normal, speckled moths. Now scientists are closing in on the genetic change responsible for that classic example of natural selection. The peppered moth is a black-and-white-spattered moth that clings to trees in the daytime. In 1800s England, dark soot from the factories began to coat trees once covered with pale lichen.