DAWSONVILLE - Meet the Stacks family - a normal family with two kids who love to play and have fun, only this family is battling a rare genetic disease that only affects 15,000 people worldwide - a disease they had never even heard of. This disease is Friedreich's Ataxia (FA) and both Hannah (age 10) and Austin (age 6) have the genetic disorder. FA is a degenerative neuromuscular disease that results in a life altering loss of coordination and balance and a serious heart condition called cardiomyopathy. Many FA patients are bound to their wheel chairs, losing their ability to walk and having their speech and other functions affected, as they fight their battle. There is currently no known treatment or cure but the Stacks family is working toward that end - and finding a cure. Following Hannahs FA diagnosis in 2009, the family immediately found FARA (Friedreich's Ataxia Research Alliance) and began working on efforts to support research for a cure. What began as a simple letter-writing campaign with family and friends evolved into a large-scale fundraiser, Swing Away at FA, a wiffle ball tournament and family fun day. The tournament represents a lot more as the Stacks family … Continue reading →

Featured Article Academic Journal Main Category: Genetics Also Included In: Pain / Anesthetics Article Date: 18 Oct 2013 - 0:00 PDT Current ratings for: 'Pain genes' identified by DNA sequencing Researchers have identified hundreds of variants in a patient's genetic code that predict which people are more susceptible to persistent chronic pain following amputation. Dr. Andrew D. Shaw, associate professor of anesthesiology and critical care medicine at Duke University Medical Center in Durham, NC, and colleagues conducted the study on 49 military service members who had amputations and persistent pain. The International Association for the Study of Pain (IASP) states that 80% of all amputees experience pain in the missing body part - known as phantom limb pain. Patients complain that the pain is similar to that prior to amputation and is more likely to occur after the amputation of a chronically painful limb. The IASP explains that large-scale surveys of amputees have revealed that treatments for phantom limb pain are often ineffective, suggesting that they fail to address the underlying mechanisms. The new Duke University Medical Center study claims that new DNA sequence variations may be "pathways of biological importance as the possible source of chronic, persistent pain." Dr. … Continue reading →

October 17, 2013 Brett Smith for redOrbit.com Your Universe Online Commonly referred to as blood poisoning, sepsis is a deadly condition caused by the bodys inflammatory reaction to a bacterial infection that often results in tissue and organ damage. Now, preliminary studies at Kings College London indicate that a simple genetic test can diagnose the condition in two hours instead of the two days required for a traditional diagnosis, according to a new study in the open access journal PLOS ONE. Sepsis is a hidden killer, causing nearly a third of all hospital deaths. Rapid antibiotic treatment for the condition is vital every minute counts, said study author Graham Lord, a professor of medicine at Kings College London. Yet current diagnostic methods can take up to two days, so an accurate diagnostic test that can be carried out at the patients bedside is urgently needed. To find a biomarker for sepsis, the international team of researchers looked at bits of genetic material known as microRNAs, which encode and regulate DNA particularly with respect to an immune response. The study scientists took blood samples from three groups of patients at two hospitals in the UK and Sweden: those with sepsis, patients … Continue reading →

BURLINGTON, Vt. - Doctors at Fletcher Allen Health Care in Burlington have been offering stem cell therapy for patients with myeloma, lymphomas and some types of leukemia since 1995. It's a life-saving procedure when patients relapse and need a very high dose of chemotherapy, what doctors call the insurance that every last cancer cells gets killed. "And the only way to do that is to give them a really high dose to eradicate every cell. But if you do that, then the bone marrow, unlike the previous treatments that they got-- where the bone marrow recovered-- the bone marrow is not going to recover. So, you're going to kill a patient if you give them this high dose of chemotherapy. To prevent that, you're going to save some of their stem cells in the bank and give it back to them after you've given them this high-dose therapy," said Dr. Julian Sprague, a hematologist at FAHC. Those stem cells are removed by a simple pheresis machine beforehand when the patient is in remission. They get them back in order to re-ignite their immune system. But in recent years, insurance companies have gotten pickier about who they cover, requiring new accreditations … Continue reading →