New research from the University of California, San Francisco has identified a genetic mutation that is linked to migraines. The mutation occurs in a gene called casein kinase I delta (CKIdelta), and the studys senior investigator, Louis J. Ptacek, said this is the first time researchers have linked a genetic mutation to common migraines. Its our initial glimpse into a black box that we dont yet understand, Ptacek, an investigator at the Howard Hughes Medical Institute at the University of California, San Francisco, said in a news release. More than 30 million Americans suffer from migraines, and scientists dont know what exactly causes them. Migraines are often characterized by intense, throbbing head pain, and are often accompanied by an aura, sensitivity to light and/or nausea. The researchers discovered the gene by looking at the genetics of two families with a history of migraines. They noticed that a large portion of the migraine sufferers either had the mutated gene or had a parent who carried the mutated gene. In the lab, the researchers were able to show how the mutation affects production of the gene, which has many important functions throughout the brain and body. This tells us that the mutation … Continue reading →

Research by UCSF Team Opens Door to Potential New Treatments Newswise A research team led by a Howard Hughes Medical Institute investigator at the University of California, San Francisco has identified a genetic mutation that is strongly associated with a typical form of migraine. In a paper published on May 1 in Science Translational Medicine, the team linked the mutation with evidence of migraine in humans, in a mouse model of migraine and in cell culture in the laboratory. The mutation is in the gene known as casein kinase I delta (CKIdelta). This is the first gene in which mutations have been shown to cause a very typical form of migraine, said senior investigator Louis J. Ptek, an investigator at HHMI and a professor of neurology at UCSF. Its our initial glimpse into a black box that we dont yet understand. Migraine, the causes of which are still unknown, affects 10 to 20 percent of all people, and causes huge losses in productivity, not to mention immense suffering, said Ptek. Typical symptoms include a pounding headache; lowered pain threshold; hypersensitivity to mild stimuli including sound and touch; and aura, which Ptek describes as a visual sensation that presages the headache … Continue reading →

May 1, 2013 A research team led by a Howard Hughes Medical Institute investigator at the University of California, San Francisco has identified a genetic mutation that is strongly associated with a typical form of migraine. In a paper published on May 1 in Science Translational Medicine, the team linked the mutation with evidence of migraine in humans, in a mouse model of migraine and in cell culture in the laboratory. The mutation is in the gene known as casein kinase I delta (CKIdelta). This is the first gene in which mutations have been shown to cause a very typical form of migraine, said senior investigator Louis J. Ptek, an investigator at HHMI and a professor of neurology at UCSF. Its our initial glimpse into a black box that we dont yet understand. Migraine, the causes of which are still unknown, affects 10 to 20 percent of all people, and causes huge losses in productivity, not to mention immense suffering, said Ptek. Typical symptoms include a pounding headache; lowered pain threshold; hypersensitivity to mild stimuli including sound and touch; and aura, which Ptek describes as a visual sensation that presages the headache to come. The paper presents both clinical and … Continue reading →

Newswise A team of researchers led by Washington University School of Medicine in St. Louis has identified virtually all of the major mutations that drive acute myeloid leukemia (AML), a fast-growing blood cancer in adults that often is difficult to treat. The findings, published online May 1 in The New England Journal of Medicine, pave the way for developing better treatments for AML based on the genetic profile of a patients cancer. They also could lead to ways to more accurately predict the severity of disease in individual patients. We now have a genetic playbook for this type of leukemia, says study co-leader Timothy Ley, MD, associate director for cancer genomics at The Genome Institute at Washington University School of Medicine. We dont know all the rules yet, but we know all the major players. This information can help us begin to understand which patients need more aggressive treatment right up front and which can be treated effectively with standard chemotherapy. Some 200 patients newly diagnosed with AML were involved in the study, funded by the National Institutes of Health (NIH) as part of The Cancer Genome Atlas project. Nearly 150 researchers were involved in the effort. A second Cancer … Continue reading →

Public release date: 1-May-2013 [ | E-mail | Share ] Contact: Joe Hadfield joe_hadfield@byu.edu 801-422-9206 Brigham Young University As a teenage student athlete, Emily Bates hated never knowing when the next migraine would strike, disrupting her schoolwork, practices and competitions. Now it's payback time. The BYU chemistry professor will publish research this week in Science Translational Medicine that identifies mutations in a gene that makes people more susceptible to migraine headaches. The study is the first demonstration of a genetic cause for the common migraine and is an important step in the search for a cure. "I had migraines really frequently and severely," Bates said. "I would lose my vision, vomit uncontrollably it would wipe out an entire day. I decided then as a high school student that I was going to work on migraines, that I was going to figure them out and help find a cure." Her last migraine happened the day before a marathon she planned to run in October 2003. Though her migraines eventually stopped, she didn't. After earning a Ph.D. in genetics from Harvard, Bates did post-doctoral research with a team of geneticists led by Louis Ptacek at UC San Francisco's medical school. This gene … Continue reading →

By CHRISTIE ASCHWANDEN May 02, 2013 12:00 AM What does your DNA really reveal about your health? It sounded enticing: For just $99, I could spit into a tube, mail it off to a company called 23andMe, and, six to eight weeks later, I'd receive a report explaining what my DNA reveals about my risk for 120 diseases everything from breast cancer to gout to sudden cardiac arrest. "Knowing how your genes may impact your health can help you plan for the future and personalize your health care with your doctor," the 23andMe Web site declares. "You'll have access to navigational tools that enable you to explore your genome and discover a whole new world of you." Based in Mountain View, Calif., 23andMe is just one of several companies that sell genetic tests directly to consumers. GenePlanet, a company based in Slovenia, markets a test that costs 399 euros, or about $518, and claims to tell you the best diet for your genotype, and Genetic Testing Laboratories promises to disclose "your predisposition for cardiovascular conditions, cancers, immune system issues, general health issues and much more" through a test that sells for $285. While these claims may seem outlandish, most have … Continue reading →

Washington, May 2 (ANI): BYU chemistry professor Emily Bates has identified mutations in a gene that makes people more susceptible to migraine headaches. The study is the first demonstration of a genetic cause for the common migraine and is an important step in the search for a cure. "I had migraines really frequently and severely. I would lose my vision, vomit uncontrollably - it would wipe out an entire day," Bates said. She decided then as a high school student that she was going to work on migraines, that she was going to figure them out and help find a cure. After earning a Ph.D. in genetics from Harvard, Bates did post-doctoral research with a team of geneticists led by Louis Ptacek at UC San Francisco's medical school. This gene hunting party worked with two families that appeared to have a dominantly inherited form of the affliction. The researchers zeroed in on genetic mutations these families had in common - mutations that affect production of a protein known as casein kinase delta. To test whether this was a cause or a coincidence, Bates designed an experiment to determine whether the same genetic trait led to migraine symptoms in mice. "All … Continue reading →