David McDonnell of Moreau said he never takes for granted the simple acts of dressing, getting in and out of the car, or even getting food from the refrigerator after watching the struggles his 34-year-old son encounters daily. Dylan McDonnell is afflicted with Friedreichs Ataxia, a rare, inherited disorder that affects the muscles and heart. Structures in areas of the brain and spinal cord that control coordination, muscle movement and some sensory functions are affected and there is no cure. Since 2008, the McDonnells have worked to raise awareness of Friedreichs Ataxia, and more than $50,000 to benefit Friedreichs Ataxia Research Alliance. Theyre now preparing to host the fifth annual free concert on Saturday at the Elks Lodge pavilion in Queensbury. The FARA event, featuring local bands and basket raffles, is becoming something that people pencil in on their calendars, Dylan said. We still have to go out and ask for donations, but half the time people come up and offer, he said. Theyll ask, Whens your benefit? What can I give? What can I do? The free concert is becoming so well known, David said, that other organizations are donating a portion of funds raised through their events to … Continue reading →

University of Portland senior Sam Bridgman is coordinating a bike ride to raise money for Friedreich's ataxia research. The Sept. 22 ride is the first in the Northwest and one of six Ride Ataxia events across the country to benefit the Friedreich's Ataxia Research Alliance. The nonprofit organization is working toward finding a cure for the rare, degenerative neuro-muscular disorder. Bridgman says he hopes the ride will increase public awareness about the debilitating disease, which affects about one in 50,000 people -- including Bridgman -- in the United States. "Because there is no treatment or cure," he says, "it is essential that we fund research in order to find a cure, so that a lot of people out there will be able to live normal lives." The event has raised $18,326 so far, and organizers hope to raise at least $30,000. The cost is $20 ($25 if registering on the day of the race) for participants who can meet a $150 fundraising minimum by race day; $50 (or $55 if registering the day of the race) without a fundraising minimum. You can also help fund-raise for no additional fee as a "virtual cyclist" without participating in the event. Participants can … Continue reading →

Lung cancer image; Credit: Shutterstock Smokers who have lung cancer suffer 10-times more genetic mutations in tumours than non-smokers with the disease, a new study shows. The findings of the research, from the Washington University School of Medicine in St. Louis, USA, have just been published in the journal Cell. Senior author Richard K. Wilson, PhD, who is director of The Genome Institute at Washington University, says, "None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer. But it was surprising to see 10-fold more mutations. It does reinforce the old message - don't smoke." The study identified around 3,700 mutations in 17 patients suffering from non-small cell lung cancer, which is the most common type. All but five of them were smokers. In each non-smoker, the researchers discovered at least one mutated gene that is able to be treated with drugs currently available for other diseases or through clinical trials. In all patients, they found 54 mutated genes linked with existing drugs. First author Ramaswamy Govindan, MD, an oncologist who treats patients at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University, says, "Whether these drugs will actually … Continue reading →

FARMINGTON, Conn., Sept. 13, 2012 /PRNewswire-iReach/ -- Global Information Inc. is pleased to announce a limited time offer on personalized medicine, next generation sequencing (NGS) and epigenetics research from Takeda Pacific, a bio/pharmaceutical and life sciences industry analyst firm based in California. (Photo: http://photos.prnewswire.com/prnh/20120913/CG74123) Personalized Medicine: Companies, Trends and World Market The Personalized Medicine market includes significant core medical product areas that will continue to have a powerful impact on current and future healthcare delivery. The science driving personalized medicine includes pharmacogenetics, pharmacogenproteomics and pharmacometabalomix. Personalized medicine uses a targeted drug that depends on the patient information identified by a companion diagnostic (genetic biomarker test). This report examines key market segments such as targeted drugs and key personalized medicine diagnostics, including companion diagnostic IVDs, LDTs, diagnostic services and related tools or technologies. Important technologies examined include: microarray, next-generation sequencing, polymerase chain reaction (PCR), bioinformatics, nanotechnology and other platforms. The report highlights new personalized diagnostics and also covers key biomarkers, commercial diagnostics and therapeutics that drive personalized medicine. Save up to 20% by purchasing this report before October 15, 2012. For a detailed executive summary, sample charts, and table of contents, or to request free sample pages from the full report, … Continue reading →

Researchers will investigate how to best match treatments to individual patients depending on their genetic makeup at a new Australian research institute. The Ian Potter Centre for Genomics and Personalised Medicine in Melbourne will focus initially on immune disorders and cancer in adults and children. Using new genomic sequencing technologies, scientists from the Murdoch Childrens Research Institute and the Walter and Eliza Hall Institute of Medical Research will examine children's food allergies, juvenile arthritis, leukaemia, neural tumours and colon cancer. 'One of the major sources of inefficiency in our health care system is the one-size-fits-all approach to treatment,' said Professor Liam O'Connor, from the Walter and Eliza Hall Institute. 'Whether we consider the use of therapies for rheumatoid arthritis or conventional chemotherapy for cancer, many people embarking on a generic treatment plan may gain little or no benefit.' Professor Andrew Sinclair from the Murdoch Childrens Research Institute said scientists would analyse patients' genetic profiles to allow doctors to match this to the best treatment plan. See the rest here: Personalised genetic research labs open … Continue reading →

Newswise Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis. None of us were surprised that the genomes of smokers had more mutations than the genomes of never-smokers with lung cancer, says senior author Richard K. Wilson, PhD, director of The Genome Institute at Washington University. But it was surprising to see 10-fold more mutations. It does reinforce the old message dont smoke. The study appears online Sept. 13 in Cell. Overall, the analysis identified about 3,700 mutations across all 17 patients with non-small cell lung cancer, the most common type. Twelve patients had a history of smoking and five did not. In each patient who never smoked, the researchers found at least one mutated gene that can be targeted with drugs currently on the market for other diseases or available through clinical trials. Across all patients, they identified 54 mutated genes already associated with existing drugs. Whether these drugs will actually work in patients with these DNA alterations still needs to be studied, says first author Ramaswamy Govindan, … Continue reading →