Tag Archives: genetic

Court ruling may open access, decrease costs for breast cancer gene test

A ruling by the Supreme Court that human genes can't be patented is expected to increase access and drop the cost for tests for gene mutations that greatly raise the risk of developing breast or ovarian cancer. In a bit of a mixed message, the court unanimously decided that certain types of gene tests may still be protected by patents, yet it struck down patents that a company has long held for BRCA genes. The company makes the only test for two of those breast cancer genes, BRCA1 and BRCA2. “It appears that it will allow the market to open up so that other laboratories can offer the test,” said Rebecca Nagy, a genetics counselor at Ohio State University and president of the National Society of Genetic Counselors. And that should make the tests cheaper and available to more women, she said. Hours after the ruling, one company - DNATraits, part of Houston-based Gene By Gene, Ltd. - said it would offer BRCA gene testing in the United States for $995 - less than a third of the current price. A primer on the case: Q: What did the court say? …

Significant under-use of genetic testing for inherited cancers puts health of entire families at risk

"Given that such testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals," he will say. "For example, removal of the ovaries in women over 40 years old who carry a BRCA mutation decreases their overall cancer mortality by 20% and prophylactic mastectomy can reduce the chances of breast cancer in women carrying such a mutation by around 90%…

Study details genes that control whether tumors adapt or die when faced with p53 activating drugs

"The gene p53 is one of the most commonly mutated cancer genes. Tumors turn it off and then they can avoid controls that should kill them. Fine: we have drugs that can reactivate p53. But the bad news is when we go into the clinic with these drugs, only maybe one in ten tumors actually dies. …

Genetic diversity within tumors predicts outcome in head and neck cancer

"Our findings will eventually allow better matching of treatments to individual patients, based on this characteristic of their tumors," says Edmund Mroz, PhD, of the MGH Center for Cancer Research, lead author of the Cancer report. "This method of measuring heterogeneity can be applied to most types of cancer, so our work should help researchers determine whether a similar relationship between heterogeneity and outcome occurs in other tumors." For decades investigators have hypothesized that tumors with a high degree of genetic heterogeneity — the result of different subgroups of cells undergoing different mutations at different DNA sites — would be more difficult to treat because particular subgroups might be more likely to survive a particular drug or radiation or to have spread before diagnosis. While recent studies have identified specific genes and proteins that can confer treatment resistance in tumors, there previously has been no way of conveniently measuring tumor heterogeneity. …

Majority of pools are contaminated by poop, CDC says

There's poop in public pools, according to a new report. Researchers at the Centers for Disease Control and Prevention (CDC) found genetic material from E. coli bacteria in 58 percent of public pools they tested during the summer of 2012. This shows that “swimmers frequently introduced fecal material into pools,” which could spread germs to other people, the researchers wrote in their report. E. coli bacteria are normally found in the human gut and feces. They also found genetic material from bacteria called Pseudomonas aeruginosa, whichcan cause skin rashes and ear infections, in 59 percent of pools. The fecal material in pools comes from swimmers not showering before getting into the water, and from incidents of defecation in pools, according to the report. The average person has 0.14 grams of fecal material on their “perianal surface” that can rinse into a pool if a person doesn't shower first, according to the report. The Pseudomonas aeruginosabacteria in the pools may have come from the natural environment, or from swimmers, the researchers said. There were no samples that showed E. coli O157:H7, a toxin-producing E. coli strain that causes illness. Two parasites, Cryptosporidium and Giardia, which also spread through feces and cause diarrhea, were found in less than 2 percent of samples. The study included 161 pools in the Atlanta area, and the researchers noted their findings may not apply to all pools, but said there is no reason to think that contamination or swimmer hygiene practices differ between pools in the study and those in the rest of the country. The researchers collected samples of water from the pools' filters, and looked for the genetic material of specific bacteria. “Chlorine and other disinfectants dont kill germs instantly,” said Michele Hlavsa, chief of CDCs Healthy Swimming Program. Its important that swimmers shower before getting in a pool, not swallow the water they swim in, and avoid swimming when they have diarrhea, she said. The CDC also recommends that parents of young children take children on a bathroom break every hour, or check diapers every 30 to 60 minutes. Diapers should be changed in a diaper-changing area, not near the poolside, the CDC says. Copyright 2013 LiveScience, a TechMediaNetwork company. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.source : http://www.foxnews.com/health/2013/05/16/poop-prevalent-in-public-pools-cdc-says/

In medical breakthrough, scientists convert human skin cells into embryonic stem cells

In a major medical breakthrough, researchers at the Oregon National Primate Research Center (ONPRC) have for the first time ever successfully converted human skin cells into embryonic stem cells – via a technique called nuclear transfer. The research has major implications for the future of medical treatments, as many believe embryonic stem cells are the key to treating damaged cells lost through injury or illness.  According to various medical researchers, stem cell therapy has the potential to treat anything from heart disease and spinal cord injuries to major neurological diseases, like Parkinson’s disease and multiple sclerosis. Through a common laboratory method known as somatic cell nuclear transfer (SCNT), ONPRC scientists, along with researchers at Oregon Health & Science University, essentially swapped the genetic codes of an unfertilized egg and a human skin cell to create their new embryonic stem cells.  The researchers were able to fine-tune this method through a series of studies in macaque monkeys, and this study marks the first successful use of the SCNT technique to create embryonic stem cells in humans after many failed attempts from other research laboratories around the world. The SCNT process involved scooping out the nucleus of a donated egg cell, leaving nothing by the egg’s cytoplasm – an essential ingredient.  The researchers replaced the egg’s nucleus with the nucleus of a skin cell, which contains an individual’s genetic code.  The combination of the egg’s cytoplasm and the skin cell’s nucleus eventually grows and develops into the embryonic stem cell. “The idea is that the egg cytoplasm has some factors – we don’t know their nature yet – but it has the ability to reset the cell’s identity,” lead author Dr. Shoukhrat Mitalipov, a senior scientist at ONPRC, told FoxNews.com.  “It basically erases all this memory, and now we can derive them and make them into stem cells.” Embryonic stem cell research has been a controversial pursuit since its conception.  Derived from unused embryos, which have been fertilized in vitro, these types of cells are pluripotent – meaning they have the capacity to develop into a variety of different cell types within the human body. However, the utilization of embryonic stem cells has been met with ethical concerns, as many believe a fertilized egg should be granted the status of a human being.  Because the fertilized human embryo is ultimately destroyed in the development of embryonic stem cells, many activist groups and politicians have spoken out against the use of such medical techniques. Fortunately, the SCNT method bypasses these ethical dilemmas, as the donated eggs are never actually fertilized.  Instead, the researchers ‘trick’ the egg cell into thinking it has been fertilized by a sperm.  During the nuclear transfer process, Mitalipov and his team prompt the cell to remain in a state known as “metaphase” – a stage of cell division in which the cell’s chromosomes align in the middle of the cell just before the cell divides.  This keeps the process from stalling and encourages the cell to ultimately develop into a stem cell. Once reprogrammed, these stem cells can be cultivated into any kind of living cell – including nerve cells, heart cells, brain cells and many more. Mitalipov also noted that once an individual has this process done, he or she will have a lifelong “bank” of embryonic stem cells doctors can utilize whenever the patient is injured or sick. “You only need to do it once per patient,” Mitalipov said.  “Once established, the stem cells are like a permanent source of stem cells – they have an unlimited capacity to keep growing…  We only need to do it once, but one colony multiples to make hundreds of colonies.  We can freeze them and continue to grow more and more.” The researchers addressed the possibility that the SCNT method may be considered therapeutic cloning, but they said it is highly unlikely this method would be able to produce human clones.  In all the years of utilizing SCNT with monkey cells, no monkey clones have ever successfully produced, so it is highly unlikely that human clones can be produced through this method – especially since human cells are much more fragile than monkey cells. Instead, Mitalipov hopes people focus on the main goal of the research, which is to foster hundreds of different studies utilizing this new process of developing embryonic stem cells. “We still have a lot more work to do, to learn how to transplant them,” Mitalipov said. “But the first step is already done, and it looks pretty clean.  Probably, people could start banking these cells now; and hopefully, in the near future we will have some treatments coming in the clinic.” The research was published online in the journal Cell.source : http://www.foxnews.com/health/2013/05/15/in-medical-breakthrough-scientists-convert-human-skin-cells-into-embryonic-stem/