Although significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS), many patients remain genetically undiagnosed. A report in the inaugural issue of the Journal of Neuromuscular Diseases identifies a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings. "While mitochondrial gene defects can cause a myriad of neurological disorders including myopathies and neuropathies, these have not been specifically implicated in defects of the neuromuscular junction," says Hanns Lochmller, MD, Professor of Experimental Myology, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK. Of the 19 genes that have been implicated in CMS, most express proteins involved in neuromuscular synapse development and function. These mutations usually involve post-synaptic proteins. The current study shifts the area of impairment to the presynaptic region. Investigators conducted genomic analyses of two patients who are brother and sister. The pair was born to healthy parents who were first cousins. "The family history was highly suggestive of autosomal recessive inheritance," notes Dr. Lochmller. Since childhood, the 33-year-old brother had displayed some speech and motor problems that worsened with exercise … Continue reading →

Contact Information Available for logged-in reporters only Newswise BALTIMORE June 18, 2014. The National Institutes of Health (NIH) has awarded a four-year, $3.7 million grant to researchers at the University of Maryland School of Medicine to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases. Inherited forms of diabetes, resulting from defects in HNF1A, GCK, HNF4A and a host of other genes, account for at least 1 percent or over 250,000 of diabetes cases nationwide. The actual number may be much higher because of the current challenges in correctly diagnosing those affected. The two primary forms of monogenic diabetes are maturity-onset diabetes of the young (MODY), a form of non-insulin-requiring diabetes found in young, sometimes lean, people, and neonatal diabetes mellitus (NDM), diagnosed in infants under 6 months old. The majority of these individuals are misdiagnosed with type 1 or type 2 diabetes and may not be … Continue reading →

Contact Information Available for logged-in reporters only ANN ARBOR, Mich. Researchers, tackling a modern challenge of diabetes research, have identified a gene believed to disrupt the ability of beta cells to produce insulin resulting in type 1 diabetes. The loss of beta cell function may be driven by a defect in Clec16a, a gene responsible for getting rid of old mitochondria, the powerhouses of cells, and making room for fresh ones. Healthy mitochondria are crucial to allowing beta cells to produce insulin and control blood sugar levels. Little has been known about the ways in which many diabetes genes work, but a study published in the journal Cell sheds light on a genetic risk component of type 1 diabetes and a new approach for keeping beta cells strong. Preserving beta cells is the top priority in diabetes care, says lead author Scott Soleimanpour, M.D., investigator at the University of Michigans Brehm Diabetes Research Center. This new pathway will allow us to focus therapies on preserving healthy mitochondria within the beta cell to treat or prevent both type 1 and type 2 diabetes. Soleimanpour, an endocrinologist who treats patients at the University of Michigan Health System, has lived with type 1 … Continue reading →

Contact Information Available for logged-in reporters only Newswise Researchers have identified the first genetic variations linked to race that begin to explain a higher risk of death among some African American and Caucasian patients taking the anti-clotting drug clopidogrel (Plavix) after a heart attack. These variants increased patients risk of dying in the year following a first heart attack, but they appeared to do so for different reasons depending on race, according to a study at Washington University School of Medicine in St. Louis. In particular, the team found that two DNA variants common in African Americans were associated with an increased risk of both bleeding and death. In Caucasians, a different variant was linked to additional heart attacks and a higher risk of death. The research is published June 17 in the American Heart Association journal Circulation: Cardiovascular Genetics. The variations influence the way people metabolize clopidogrel and can alter its effectiveness. The blood-thinning drug commonly is prescribed after a heart attack to reduce the likelihood of another heart attack or a stroke. The research is provocative, said the studys first author, cardiologist Sharon Cresci, MD, assistant professor of medicine and of genetics. Knowing about potential genetic differences based … Continue reading →

June 17, 2014 Image Caption: ImStem Biotechnologys Xiaofang Wang, seated, and Ren-He Xu. Credit: Tina Encarnacion/UConn University of Connecticut Scientists in the University of Connecticuts Technology Incubation Program have identified a novel approach to treating multiple sclerosis (MS) using human embryonic stem cells, offering a promising new therapy for more than 2.3 million people suffering from the debilitating disease. The researchers demonstrated that the embryonic stem cell therapy significantly reduced MS disease severity in animal models, and offered better treatment results than stem cells derived from human adult bone marrow. The study was led by ImStem Biotechnology Inc. of Farmington, Conn., in conjunction with UConn Health Professor Joel Pachter, Assistant Professor Stephen Crocker, and Advanced Cell Technology (ACT) Inc. of Massachusetts. ImStem was founded in 2012 by UConn doctors Xiaofang Wang and Ren-He Xu, along with Yale University doctor Xinghua Pan and investor Michael Men. The cutting-edge work by ImStem, our first spinoff company, demonstrates the success of Connecticuts Stem Cell and Regenerative Medicine funding program in moving stem cells from bench to bedside, says Professor Marc Lalande, director of the UConns Stem Cell Institute. The research was supported by a $1.13 million group grant from the state of Connecticuts … Continue reading →

Stem cell therapy for cardiovascular disease isn't a medical pipe dream -- it's a reality today, although patients need to better understand the complex science behind these experimental treatments, according to the chief of Cardiology for the Cedars-Sinai Heart Institute. In a 17-minute TEDxGrandForks talk, Timothy D. Henry, MD, known for his innovative work in developing stem cell treatments for advanced heart disease patients, said he understands why so many are confused about the latest scientific findings. This video can be found at: https://www.youtube.com/watch?v=tD0HSFe3mrY Most people today "get our information from sound bites," and the issues surrounding stem cells are too complex to be fully explained in a single catchy phrase, Henry said, adding, "We have far too much controversy about stem cells and far too much hype." Stem cell science has become "a political dividing line" with many opposing research into stem cells derived from human embryos, Henry said. However, he said, today's leading-edge clinical research focuses on stem cells derived from adults that can be scientifically programmed to become a specialized cell, such as a heart cell or a brain cell, thereby avoiding the ethical questions involved in embryonic research. "Very few of the cells we give actually … Continue reading →

Update (4:20 p.m.): Updated with Thursday market close information. NEW YORK (TheStreet) --StemCells (STEM) surged to a 52-week high of $2.10 on Thursday after the company reported positive interim results from a Phase I/II clinical trial of itsproprietary HuCNS-SC human neural stem cell platform in dry age-related macular degeneration. The results showed improvement in visual function and a slowing of the disease's progression. The data showed a65% decrease in the rate of geographic atrophy in the eye studied compared to the expected natural history of the disease, along with a 70% decrease in the rate of GA (the gradual loss of two crucial retinal tissue layers, the photoreceptors and the retinal pigmented epithelium) when compared to the control eye. Maxim Groupsaid in a research note Thursday the early data "represents a best case outcome. This therapy represents a blockbuster opportunity (dry AMD) and could be transformational for the company."Maxim maintained its "buy" rating and $2.50 price target on the stock. STEM data by YCharts Follow this link: Why StemCells (STEM) Hit a One-Year High Today … Continue reading →

Introduction to nanomedicine with emphasis on carrier-mediated drug targeting Lecturer: Rimona Margalit (TAU) "Summer School on Nanomedicine and Innovation", The Marian Gertner Institute for Medical Nanosystems, Tel Aviv University, Ju... By: TAUVOD … Continue reading →

Los Angeles, CA (PRWEB) June 19, 2014 Several prominent speakers from across the globe that are part of Nanotek-2014 include Claudio Nicolini, Nanoworld Institute, Italy; Haruo Sugi, Teikyo University School of Medicine, Japan; Jim Klostergaard, MD Anderson Cancer Center, The University of Texas, USA; Israel Felner, The Hebrew University, Israel; Jean-Paul (Moshe) Lellouche, Bar-Ilan University, Israel; John F. Donegan, Trinity College Dublin, Ireland; Ashok K. Vaseashta, International Clean Water Institute, USA,; Kimihisa Yamamoto, Tokyo Institute of Technology, Japan; Serhii Shafraniuk, Northwestern University, USA; Mark Kester, NanoSTAR Institute of the University of Virginia, USA; Bjarne Bogen, University of Oslo and Oslo University Hospital, Norway; and Moinuddin Sarker, Natural State Research, Inc., USA. Eminent Nobel Laureate Prof. Harold Kroto of the Florida State University, USA delivers keynote address on 'Carbon in Nano and Outer Space. On this occasion he described Nanotek-2014 as "Recent and exciting developments in our understanding of nanostructured materials promise paradigm shifting advances in device applications.Meetings such as Nanotek 2014 facilitate the cross-disciplinary research which will be needed to overcome the major technical hurdles if this promise is to be realized." OMICS Group Journal of Nanomedicine & Nanotechnology, Journal of Nanomedicine & Biotherapeutic Discovery and Journal of Nanomaterials & … Continue reading →