Contact Information Available for logged-in reporters only Newswise LA JOLLA, CAJanuary 12, 2015A team led by scientists at The Scripps Research Institute (TSRI) has identified an enzyme that produces a class of inflammatory lipid molecules in the brain. Abnormally high levels of these molecules appear to cause a rare inherited neurodegenerative disorder, and that disorder now may be treatable if researchers can develop suitable drug candidates that inhibit this enzyme. This treatment approach may also turn out to be useful against more common conditions that involve brain inflammationa category that includes multiple sclerosis, Alzheimers, Parkinsons, ALS and secondary damage after stroke and head injuries. Such inflammation often fails to respond to standard anti-inflammatory drugs. This finding is a good example of what can be gained from studying enzymes linked to rare human genetic disorders, said Benjamin F. Cravatt, chair of TSRIs Department of Chemical Physiology and member of TSRIs Skaggs Institute for Chemical Biology. Rare and Mysterious Disorder The new study by Cravatts team, which appears as a Nature Chemical Biology Advance Online Publication on January 12, stemmed from investigations of PHARC, a rare and mysterious inherited disorder that was first described by Norwegian researchers in 2009. Named for its … Continue reading →

A team led by scientists at The Scripps Research Institute (TSRI) has identified an enzyme that produces a class of inflammatory lipid molecules in the brain. Abnormally high levels of these molecules appear to cause a rare inherited neurodegenerative disorder, and that disorder now may be treatable if researchers can develop suitable drug candidates that inhibit this enzyme. This treatment approach may also turn out to be useful against more common conditions that involve brain inflammation -- a category that includes multiple sclerosis, Alzheimer's, Parkinson's, ALS and secondary damage after stroke and head injuries. Such inflammation often fails to respond to standard anti-inflammatory drugs. "This finding is a good example of what can be gained from studying enzymes linked to rare human genetic disorders," said Benjamin F. Cravatt, chair of TSRI's Department of Chemical Physiology and member of TSRI's Skaggs Institute for Chemical Biology. Rare and Mysterious Disorder The new study by Cravatt's team, which appears as a Nature Chemical Biology Advance Online Publication on January 12, stemmed from investigations of PHARC, a rare and mysterious inherited disorder that was first described by Norwegian researchers in 2009. Named for its unique set of typical symptoms (polyneuropathy, hearing loss, ataxia, retinitis … Continue reading →

An international research team finds a link between retinal degeneration and lipid metabolism IMAGE:Dr. Robert Koenekoop examines a child's eyes and vision at the McGill Ocular Genetics Laboratory. view more Credit: McGill University Health Centre This news release is available in French. Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery. When 11 year old Naomi Lalandec walked into Dr. Robert Koenekoop's clinic at the Montreal Children's Hospital of the McGill University Health Centre (MUHC) with blindness and dwarfism due to Oliver McFarlane Syndrome (OMS), her unknown mutation sparked an international gene hunt. Comparing her genome to others with OMS and Leber congenital amaurosis (LCA), another form of childhood blindness, uncovered a new gene that is critical for vision. What makes this breakthrough exceptional is that it opens up new treatment avenues for OMS and LCA and potentially other retinal degenerative diseases. … Continue reading →

Researchers at the Montreal Heart Institute announced today results showing that patients with cardiovascular disease and the appropriate genetic background benefit greatly from the new medication dalcetrapib, with a reduction of 39% in combined clinical outcomes including heart attacks, strokes, unstable angina, coronary revascularizations and cardiovascular deaths. These patients also benefit from a reduction in the amount of atherosclerosis (thickened walls) in their vessels. The detailed results are published in the Journal Circulation Cardiovascular Genetics. This discovery may also pave the way for a new era in cardiovascular medicine, with personalized or precision drugs. The team led by Drs Jean-Claude Tardif and Marie-Pierre Dub performed the analysis of 5749 patients who received dalcetrapib or placebo and provided DNA in a clinical study. A strong association was discovered between the effects of dalcetrapib and a specific gene called ADCY9 (adenylate cyclase 9) on chromosome 16, particularly for a specific genetic variant (rs1967309). In patients with the genetic profile AA at rs1967309, there was a 39% reduction in the composite cardiovascular endpoint with dalcetrapib compared to placebo. Supporting evidence was also obtained from a second study, which showed that patients with the favourable genetic profile also benefited from a reduction in the … Continue reading →

Important reduction in events including heart attacks and deaths in patients with the appropriate genetic background to respond to a new medication IMAGE:This is Dr. Jean-Claude Tardif. view more Credit: MHI This news release is available in French. Montreal, January 12 2015 - Researchers at the Montreal Heart Institute announced today results showing that patients with cardiovascular disease and the appropriate genetic background benefit greatly from the new medication dalcetrapib, with a reduction of 39% in combined clinical outcomes including heart attacks, strokes, unstable angina, coronary revascularizations and cardiovascular deaths. These patients also benefit from a reduction in the amount of atherosclerosis (thickened walls) in their vessels. The detailed results are published in the prestigious Journal Circulation Cardiovascular Genetics. This discovery may also pave the way for a new era in cardiovascular medicine, with personalized or precision drugs. The team led by Drs Jean-Claude Tardif and Marie-Pierre Dub performed the analysis of 5749 patients who received dalcetrapib or placebo and provided DNA in a clinical study. A strong association was discovered between the effects of dalcetrapib and a specific gene called ADCY9 (adenylate cyclase 9) on chromosome 16, particularly for a specific genetic variant (rs1967309). In patients with the genetic … Continue reading →