By RTT News, November 19, 2014, 09:19:00 AM EDT (RTTNews.com) - Bio Blast Pharma Ltd. ( ORPN ) announced it has been granted Orphan Drug Designation by the U.S. FDA for Cabaletta for the treatment of Spinocerebellar Ataxia Type 3 (known as SCA3 and Machado Joseph disease). This is the second indication for which Bio Blast's Cabaletta has received such designation. Cabaletta is a chemical chaperone that protects against pathological processes in cells. The company noted that Cabaletta has demonstrated efficacy in preclinical cells and animal models of SCA3 and other PolyA/PolyQ diseases, including Occulopharyngeal Muscular Dystrophy and Spino bulbar cerebellar ataxia. Bio Blast plans to make clinical progress in each of these indications in 2015. For comments and feedback: contact editorial@rttnews.com http://www.rttnews.com See the original post: Bio Blast: Cabaletta Gets Orphan Drug Designation For Treatment Of SCA3 Disease … Continue reading →

PUBLIC RELEASE DATE: 18-Nov-2014 Contact: Nancy Solomon solomonn@slu.edu 314-977-8017 Saint Louis University A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine. Angela Sharkey, M.D., professor of pediatrics at Saint Louis University, and a study author, said researchers found losartan, which had been more effective in an animal model of Marfan syndrome, was equally effective to a high dose of the beta blocker atenolol. "While there may be certain patients who respond better to one drug or another, we found no evidence that losartan is superior to atenolol, a beta blocker currently prescribed for Marfan syndrome," said Sharkey, who was honored earlier this year as the Marfan Foundation's Hero with a Heart. "Losartan appears to be a reasonable alternative treatment for patients who can't take beta blockers, which could give physicians another option to treat a rare and debilitating genetic disease." Both medications are designed to relax the blood vessels so the heart doesn't have to work as hard to pump blood through the body. Atenolol slows the heart rate, which decreases … Continue reading →

Are people born gay or is it a choice? A new study of gay brothers, the largest to date, adds more scientific evidence that theres a genetic basis for homosexuality. A genetic analysis of over 409 pairs of gay brothers found that two areas of the human genome, a portion of the X chromosome and a portion of chromosome 8, were associated with the mens sexual orientation. The findings gel with a smaller study conducted in 1993 that implicated the same area of the X chromosome. Before proceeding, its important to be clear that this study did not discover a gay gene. The regions they identified contain many different genes, so scientists still have a lot of searching to do before finding the specific genes that underlie sexual orientation. With that said, heres how scientists established a broad genetic link. Over several years, the studys lead author Alan Sanders, of the NorthShore Research Institute in Illinois, collected blood and saliva samples from 409 pairs of gay brothers, including sets of non-identical twins. Then, researchers went through each mans samples looking for unique genetic markers shared by all men in the study. The 818 men varied in hair color, height, intelligence … Continue reading →

PUBLIC RELEASE DATE: 18-Nov-2014 Contact: Karen Astle karen.astle@heart.org 214-706-1392 American Heart Association @HeartNews Adults counseled on their genetic risk of coronary heart disease believe they have more control over their fate, according to research presented at the American Heart Association's Scientific Sessions 2014. Researchers examined the impact of disclosing risk of 10-year heart disease with or without genetic risk information to 207 patients (48 percent male, average age 58) participating in Myocardial Infarction GENES (MI-GENES), a randomized controlled study. The study's key elements included a risk score based on established risk factors and a genetic risk score based on 28 single nucleotide polymorphisms; risk disclosure by a genetic counselor in a 30-minute session; and two questionnaires about patient satisfaction - perceived personal control and genetic counseling satisfaction. Researchers found that patients who received the genetic risk information had a higher perceived personal control value compared to those who didn't (8.85 vs. 8.54). Patients who received genetic risk information also reported a higher genetic counseling satisfaction (9.08 vs. 8.3). "We have shown that disclosure of genetic risk led to increased perceived personal control and counseling satisfaction, which are associated with the increased likelihood of adopting healthier behaviors that may reduce coronary … Continue reading →