PUBLIC RELEASE DATE: 30-Jan-2014 Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego In a study published in the January 31, 2014 issue of Science, an international team led by scientists at the University of California, San Diego School of Medicine report doubling the number of known causes for the neurodegenerative disorder known as hereditary spastic paraplegia. HSP is characterized by progressive stiffness and contraction of the lower limbs and is associated with epilepsy, cognitive impairment, blindness and other neurological features. Over several years, working with scientific colleagues in parts of the world with relatively high rates of consanguinity or common ancestry, UC San Diego researchers recruited a cohort of more than 50 families displaying autosomal recessive HSP the largest such cohort assembled to date. The scientists analyzed roughly 100 patients from this cohort using a technique called whole exome sequencing, which focuses on mapping key portions of the genome. They identified a genetic mutation in almost 75 percent of the cases, half of which were in genes never before linked with human disease. "After uncovering so many novel genetic bases of HSP, we were in the unique position to investigate how these causes link together. We were … Continue reading →

PUBLIC RELEASE DATE: 30-Jan-2014 Contact: Donna Dubuc Donna.M.Dubuc@Dartmouth.edu 603-653-3615 The Geisel School of Medicine at Dartmouth (Lebanon, NH, 1/30/14) Dartmouth researchers developed a new biological pathway-based computational model, called the Pathway-based Human Phenotype Network (PHPN), to identify underlying genetic connections between different diseases as reported in BioDataMining this week. The PHPN mines the data present in large publicly available disease datasets to find shared SNPs, genes, or pathways and expresses them in a visual form. "The PHPN offers a bird's eye view of the diseases and phenotype's relationships at the systems level," said Christian Darabos, PhD, post-doctoral fellow, Institute for Quantitative Biomedical Sciences (iQBS), Dartmouth College. The PHPN uses information in human disease networks in conjunction with network science tools to show clusters of related disorders sharing common genetic backgrounds. It does so without the typical clinical classification of disease, in which all heart disease or all cancers are grouped together, based on clinical presentation. Dartmouth geneticists instead rely on the information contained in the PHPN's topology to automatically classify traits and diseases by their shared genetic mechanisms, such as common genes or pathways. PHPN explores the connections between the layers of the networks to find patterns and relationships. "The … Continue reading →

Nicolo' Minerbi / LUZphoto / eyevine Mauro Ferrari, who heads the Institute for Academic Medicine at the Houston Methodist Hospital in Texas, is the Italian government's nominee to chair a committee on the controversial Stamina Foundation. Top scientists in Italy have called on the health minister Beatrice Lorenzin to reconsider the composition of the new scientific advisory committee she has proposed to assess a controversial stem-cell therapy offered by the Stamina Foundation. Their move follows a renewed media frenzy around the affair, prompted by statements made to the press and television by the committees proposed president, Mauro Ferrari, shortly after he was nominated on 28 December. The Stamina therapy, which has not been scientifically proven to be effective in a clinical trial, involves extracting mesenchymal stem cells from bone marrow of a patient, manipulating them and then reinjecting them into the same patients blood or spinal fluid. Stamina, based in Brescia, has already treated more than 80 patients for a wide range of serious diseases. Stamina's practices have been widely criticized by experts both in Italy and outside, and the first government-appointed scientific committee to rule on Stamina prepared a detailed report describing the Stamina protocol as without a scientific … Continue reading →

PUBLIC RELEASE DATE: 29-Jan-2014 Contact: Shaun Mason smason@mednet.ucla.edu 310-206-2805 University of California - Los Angeles Scientists from UCLA's Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research were today awarded grants totaling more than $3.5 million by California's stem cell agency for their ongoing efforts to advance revolutionary stem cell science in medicine. Recipients of the awards from the California Institute of Renerative Medicine (CIRM) included Lili Yang ($614,400), who researches how stem cells become rare immune cells; Denis Evseenko ($1,146,468), who is studying the biological niche in which stem cells grow into cartilage; Thomas Otis and Bennet Novitch ($1,148,758), who are using new techniques to study communication between nerve and muscle cells in spinal muscular atrophy; and Samantha Butler ($598,367), who is investigating the molecular elements that drive stem cells to become the neurons in charge of our sense of touch. "These basic biology grants form the foundation of the revolutionary advances we are seeing in stem cell science," said Dr. Owen Witte, professor and director of the Broad Stem Cell Research Center. "Every cellular therapy that reaches patients must begin in the laboratory with ideas and experiments that will lead us to revolutionize medicine and … Continue reading →