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Archive - Jun 1, 2017

North Carolina Governor & NIH Director Kick Off Precision Medicine World Conference (PMWC) 2017 at Duke

The 12th Personalized Medicine World Conference (PMWC) and the first on the East Coast of the United States was held May 24-25 at Duke University in North Carolina, and featured major biotech and medical figures from around the world. The meeting was opened by Program Co-Chair Ralph Snyderman, MD, Chancellor Emeritus, Duke University, James B. Duke Professor of Medicine, Duke University Medical School, and Director of the Duke Center for Research on Personalized Health Care. Dr. Snyderman said that with the completed sequencing of the human genome in 2003, there was a vision that health care would be transformed by new technologies and genomic advances, and that already remarkable progress has been made toward extending the healthy living and longevity of every person. He highlighted the strengths of Research Triangle Park and compared it favorably with Silicon Valley, particularly with respect to innovation. He paid tribute to the meeting co-hosts: Duke, Duke Health, Johns Hopkins University, Intermountain Healthcare, and UCSF, and then called upon Tal Behar, Co-Founder and President of PMWC International to say a few welcoming words to the over 400 meeting registrants. Tal said the PMWC was thrilled and honored to be at Duke for the first East Coast PMWC meeting and she thanked the meeting co-chairs, Dr. Snyderman and Geoff Ginsburg. MD, PhD, Professor of Medicine and Director of the Duke Center for Applied Genomic and Precision Medicine, for their efforts in organizing this truly spectacular meeting. She wished everyone two very productive days and then called on Dr. Ginsburg to make a few opening remarks. Dr. Ginsburg emphasized that precision medicine involves the convergence of many fields and focuses on the centrality of the patient.

Common Acne Medication Offers New Treatment for Recent-Onset Multiple Sclerosis; “Spectacular Outcome Will Positively Impact People's Lives Worldwide”

A Canadian clinical trial led by researchers at the University of Calgary's Hotchkiss Brain Institute (HBI), at the Cumming School of Medicine (CSM), shows that minocycline, a common acne medication, can slow the progress of relapsing-remitting multiple sclerosis (MS) in people who have recently experienced their first symptoms. In addition to being an unexpected discovery - an acne drug benefitting a neurological disorder - the discovery is significant as it offers a safe and affordable treatment option for those with early onset MS. This discovery could impact thousands of newly diagnosed MS patients around the world. The results of the Phase 3 clinical trial were published in the June 1, 2017 issue of the New England Journal of Medicine. The trial included 142 participants between the ages of 18 and 60 across 12 Canadian sites including: Vancouver, Burnaby, Calgary, Edmonton, Winnipeg, Ottawa, Toronto, London, Montreal, Quebec City, and Halifax. MS is thought to be an autoimmune disease of the central nervous system (brain, spinal cord). The disease attacks myelin, the protective covering of the nerves, causing inflammation and often damaging the myelin. The drug works by reducing the inflammation. The NEJM article is titled “Trial of Minocycline in a Clinically Isolated Syndrome of Multiple Sclerosis.” In Canada, the cost of current therapies for relapsing-remitting MS typically falls in the range of $20,000 to $40,000 per year; the minocycline treatment would cost a fraction of that at about $600 per year. In the United States, MS treatment often costs about three times as much as in Canada. Researchers say the potential cost saving will be tremendous and will improve access to treatment for people with MS.

Gene Finding Will Allow Eradication of Severe Blistering Disorder of the Skin Found in Dogs

Researchers at the University of Helsinki in Finland have identified a novel gene defect that causes a hereditary blistering disorder of the skin, epidermolysis bullosa, in dogs. Epidermolysis bullosa, found in the Central Asian Shepherd dog breed, occurs also in humans due to an identical gene found in both canines and humans. Hereditary blistering disorders of the skin are found with varying severity in both humans and animals. A symptom typical of all disease types is fragile skin that is easily damaged, followed by blistering and abrasion of the skin. This is caused by a defect in or deficiency of the structural proteins of the skin. "The project got its start when blistering in the skin and mucosal membranes was detected in different parts of the body in newborn littermates of Central Asian Shepherd dogs. This finding aroused suspicions of a hereditary blistering disorder of the skin," says researcher Marjo Hytönen, a member of the research group led by Professor Hannes Lohi. Pathological tests conducted by the Finnish Food Safety Authority Evira confirmed the diagnosis as epidermolysis bullosa. In genetic studies conducted by gene researchers at the University of Helsinki, the gene defect causing the disease was found in the COL7A1 gene. The gene is responsible for producing collagen, an important component in preserving the elasticity of the skin. This finding helped specify the diagnosis as the dystrophic form of the recessive blistering disorder of the skin known as epidermolysis bullosa. Four different structural types of the disease are known: simplex, junctional, dystrophic, and Kindler syndrome.

Raising Age Limit for Genetic Testing for Lynch Syndrome (Hereditary Nonpolyposis Colon Cancer) Could Decrease Mortality from This Cancer

Raising the age limit for routine genetic testing in colorectal cancer could identify more cases of families affected by Lynch syndrome, a condition that accounts for approximately 5% of all colon cancers, according to new research presented at the annual conference of the European Society of Human Genetics (ESHG) in Copenhagen, Denmark, on May 29, 2017. Professor Nicoline Hoogerbrugge, Head of the Radboud University Medical Centre Expert Centre on Hereditary Cancers, Nijmegen, The Netherlands, will tell the conference that there is an urgent need to find families carrying a mutation for Lynch syndrome in order to decrease mortality from the disease. "We know that, at present, only between 20% and 30% of people with Lynch syndrome have been identified. Most countries rely on detection through family history and early age at diagnosis, and this leads to significant under-diagnosis. We have shown that, by raising the age limit for testing we are able to detect new affected families who would not have been identified previously," she says. The researchers studied results of mismatch repair (MMR) testing in patients up to 70 years of age with colorectal cancer from 14 pathology laboratories. Previously, in The Netherlands, such testing was carried routinely in patients who were aged up to 50. Of 87 patients whose results suggested that they are at high risk of Lynch syndrome, 35 were referred for genetic counseling. After further testing, Lynch syndrome mutations were definitely identified in 13 of 32 patients with complete genetic testing, and 11 of these patients came from families in which the disease had previously not been detected. Eight of them were aged between 50 and 70 and did not comply with previous referral criteria for genetic testing based on age and family history.