By sequencing over 50% of the genome of a Bactrian camel, researchers at the Vienna’s University of Veterinary Medicine have made a significant contribution to population genetic research on camels. The study has laid the foundation for future scientific work on these enigmatic desert animals. A blood sample from a single Bactrian camel with the evocative name of “Mozart” (Mozart himself is shown in a reflective pose at left–photo by Thomas Lipp) provided the genetic raw material for the work, which was undertaken by Dr. Pamela Burger and her colleague Dr. Nicola Palmieri at the Institute of Population Genetics within the University. The report describing the sequencing was published online in an open-access article on March 1, 2013 in the Journal of Heredity. Camels are divided into two species, the one-humped dromedary and the two-humped Bactrian camel. Whether equipped with one or two humps, camels are precious in desert regions throughout the world. Their ability to carry heavy loads over long distances makes them ideally suited for transportation. In addition, camels are able to survive for weeks in hostile environments without food and water. Despite the extremely arid conditions, camels still provide enough milk for human consumption and also have an important role as a source of meat. Camels are specialists when it comes to adapting to the environment and have been characterized as sustainable food producers. Dr. Pamela Burger heads one of the few research groups in Europe that study camel genetics. Dr. Burger and her colleagues are primarily interested in the domestication of camels, which took place around 3,000 to 6,000 years ago. Genetic data provide important clues on the breeding strategies and selection processes that were applied by humans at that time.
Garland Science is proud to announce the publication of the much-anticipated Second Edition of “The Biology of Cancer” by Robert A. Weinberg. The First Edition has been hailed as an incomparable classic. Thoroughly updated and incorporating the most important advances in the fast-growing field of cancer biology, The Biology of Cancer, Second Edition, maintains all of its hallmark features admired by students, instructors, researchers, and clinicians around the world. “The Biology of Cancer” is a textbook for students studying the molecular and cellular bases of cancer at the undergraduate, graduate, and medical school levels. The principles of cancer biology are presented in an organized, cogent, and in-depth manner. The clarity of writing, supported by an extensive full-color art program and numerous pedagogical features, makes the book accessible and engaging. The information unfolds through the presentation of key experiments that give readers a sense of discovery and provide insights into the conceptual foundation underlying modern cancer biology. Besides its value as a textbook, The Biology of Cancer is a useful reference for individuals working in biomedical laboratories and for clinical professionals. The new Second Edition has been comprehensively revised and updated to include major advances in cancer biology over the past six years. Updates include current information on: the tumor microenvironment, metastatic dissemination, tumor immunology, cancer stem cells, the epithelial-mesenchymal transition, multi-step tumorigenesis, invasion and metastasis, mutation of cancer cell genomes, greatly expanded treatment of traditional therapy, epigenetic contributions, microRNA involvement, and the Warburg effect Praise for the First Edition of “The Biology of Cancer” includes the following.
Researchers at the Stanford University School of Medicine and collaborators have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig’s disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure. Although researchers know of some mutations associated with inherited forms of ALS, the majority of patients have no family history of the disease, and there are few clues as to its cause. The Stanford researchers compared the DNA sequences of 47 patients who have the spontaneous form of the disease, known as sporadic ALS, with those of their unaffected parents. The goal was to identify new mutations that were present in the patient but not in either parent that may have contributed to disease development. Several suspects are mutations in genes that encode chromatin regulators – cellular proteins that govern how DNA is packed into the nucleus of a cell and how it is accessed when genes are expressed. Protein members of one these chromatin-regulatory complexes have recently been shown to play roles in normal development and some forms of cancer. “The more we know about the genetic causes of the disorder, the greater insight we will have as to possible therapeutic targets,” said Aaron Gitler, Ph.D., associate professor of genetics. “Until now, researchers have primarily relied upon large families with many cases of inherited ALS and attempted to pinpoint genetic regions that seem to occur only in patients. But more than 90 percent of ALS cases are sporadic, and many of the genes involved in these cases are unknown.” Dr.
The sixth annual Personalized Medicine Conference (6.0) organized by San Francisco State University will focus on the amazing technological challenges and advances of “next-generation sequencing,” examining the very latest approaches and how they are leading to profound changes in our understanding of basic biological questions and to more efficacious and cost-effective therapies. The conference is entitled, “Next-Generation Sequencing for Targeted Therapeutics.” Featured speakers include Kimberly J. Popovits, Chairman of the Board, Chief Executive Officer & President of Genomic Health; Dr. Mark Sliwkowski, Distinguished Staff Scientist at Genentech; Professor Atul Butte of Stanford University; and Dr. Carl Borrebaeck, Professor & Chair of Immunotechnology and Director of CREATE Health at Lund University in Sweden. The conference will take place at the South San Francisco Conference Center (www.ssfconf.com/directions-top) from 8:00 am to 5:30 pm on Thursday, May 30, 2013, with a reception to follow. Those wishing to attend are urged to register as soon as possible (personalizedmedicine.sfsu.edu/register.html). For additional information, to help sponsor the event, or to inquire about special academic rates, contact firstname.lastname@example.org. The conference organizers, including Michael Goldman, Ph.D., Professor and Chair of San Francisco State’s Department of Biology, noted that with the price of sequencing a complete human genome falling into the $1,000 range, stunning advances are sure to come over the next few years. It is likely that a detailed genome sequence will soon be part of a routine medical history, allowing unprecedented precision in diagnosis and treatment. The DNA and RNA signatures of both complex, common diseases and rare, elusive conditions will yield their secrets.
Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai in New York and colleagues. The findings, published online on May 23, 2013 in the American Journal of Human Genetics, may lead to new treatment options for this debilitating disease, for which the only current treatment option is repeated surgical removal of the tumors. IM is an inheritied disorder that develops in infancy or even in utero and tumors continue to present throughout life. The tumors do not metastasize, but can grow large enough to invade the tissue surrounding them causing physical limitations, disfiguration, bone destruction, intestitinal obstruction, and even death. Currently, the standard of care is to excise the tumors when possible, which can be invasive, painful, and disfiguring, and most patients require multiple surgeries throughout their lives. Led by John Martignetti, M.D., Ph.D., Associate Professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics and other researchers at the Icahn School of Medicine at Mount Sinai and Hakon Hakonarson, M.D., Ph.D., at the Children’s Hospital of Philadelphia, the global research team gathered blood samples from 32 people from nine different families affected by the disease and performed whole-exome sequencing, a type of genomic sequencing where all protein-coding regions of the genome, called the exome, are analyzed. They identified mutations in two genes: PDGFRB and NOTCH3. “We are very excited about the findings of this study, which started 10 years ago with the enrollment of the first family,” said Dr. Martignetti.
German cockroaches (image), which are found throughout many human settlements, have apparently evolved an aversion to glucose in order to avoid roach poisons that often contain this ingredient. In a study published in the May 24, 2013 issue of Science, North Carolina State (NC State) University entomologists describe the neural mechanism behind the aversion to glucose, the simple sugar that is a popular ingredient in roach-bait poisons. Glucose now sets off bitter receptors in cockroach taste buds, causing cockroaches to avoid foods that bring on this taste-bud reaction. This aversion has a genetic basis and it eventually spreads to offspring, resulting in increasingly large groups of cockroaches that reject glucose and any baits made with it. In normal German cockroaches, glucose elicits activity in sugar gustatory receptor neurons, which react when exposed to sugars like glucose and fructose – components of corn syrup, a common roach-bait ingredient. Generally, roaches have a sweet tooth for these sugars. “We don’t know if glucose actually tastes bitter to glucose-averse roaches, but we do know that glucose triggers the bitter receptor neurons that would be triggered by caffeine or other bitter compounds,” says Dr. Coby Schal, the Blanton J. Whitmire Distinguished Professor of Entomology at NC State and the corresponding author of the paper. “That causes the glucose-averse roach to close its mouth and run away from glucose in tests.” In the study, the researchers conducted tests on the roach tongue, the paired mouth appendages called paraglossae. The tests showed the unexpected electrophysiological reactions that glucose stimulates both sugar and bitter receptor neurons, confirming behavioral tests that showed roaches quickly fleeing from glucose when presented with it. But it’s not just a sugar aversion.
In a pioneering, first-of-its-kind-in-the-world operation, an international team of surgeons at Children’s Hospital of Illinois created and transplanted a windpipe into a 32-month-old Korean toddler born with a rare, fatal, congenital abnormality in which her trachea failed to develop. During the revolutionary operation, the surgical team implanted a tissue-engineered stem cell based artificial windpipe in Hannah Warren, who had spent her entire life living in a neonatal intensive care unit in a hospital in Seoul, South Korea. Unable to breathe, talk, swallow, eat or drink on her own since birth, Hannah would have died without a trachea transplant. The groundbreaking, nine-hour operation took place at Children’s Hospital of Illinois, part of the OSF Saint Francis Medical Center, in Peoria, Illinois, on April 9, 2013. It is the first time a child has received a tissue-engineered, bioartificial trachea, which was made using non-absorbable nanofibers and stem cells from her own bone marrow. Because no donor organ was used, the remarkable procedure virtually eliminates the chance of her immune system rejecting the transplant. It is expected that in the coming months, Hannah will be able to return home with her family and lead a normal life. “The most amazing thing, which for a little girl is a miracle, is that this transplant has not only saved her life, but it will eventually enable her to eat, drink and swallow, even talk, just like any other normal child,” said Dr. Paolo Macchiarini, Professor of Regenerative Surgery at the Karolinska Institutet, Stockholm, Sweden and lead surgeon in the case.
Ruhr-University Bochum’s (RUB’s) medics in Germany have succeeded in treating cerebral palsy with autologous cord blood. Following a cardiac arrest with severe brain damage, a 2.5-year-old boy had been in a persistent vegetative state – with minimal chances of survival. Just two months after treatment with the cord blood containing stem cells, the symptoms improved significantly; over the following months, the child learned to speak simple sentences and to move. “Our findings, along with those from a Korean study, dispel the long-held doubts about the effectiveness of the new therapy,” says Dr. Arne Jensen of the Campus Clinic Gynecology. Together with his colleague Professor Dr. Eckard Hamelmann of the Department of Pediatrics at the Catholic Hospital Bochum (University Clinic of the RUB), he reports on the case in an open-access article in 2013 issue of the journal “Case Reports in Transplantation.” At the end of November 2008, the child suffered from cardiac arrest with severe brain damage and was subsequently in a persistent vegetative state with his body paralyzed. Up to now, there has been no treatment for the cause of what is known as infantile cerebral palsy. “In their desperate situation, the parents searched the literature for alternative therapies,” Dr. Jensen explains. “They contacted us and asked about the possibilities of using their son’s cord blood, frozen at his birth.” Nine weeks after the brain damage, on 27 January 2009, the doctors administered the prepared blood intravenously. They studied the progress of recovery at 2, 5, 12, 24, 30, and 40 months after the insult. Usually, the chances of survival after such severe brain damage and more than 25 minutes duration of resuscitation are six per cent.
In an age when microbial pathogens are growing increasingly resistant to the conventional antibiotics used to tamp down infection, a team of Wisconsin scientists has synthesized a potent new class of compounds capable of curbing the bacteria that cause staph infections. Writing online on May 6, 2013 in the Journal of the American Chemical Society, a group led by University of Wisconsin-Madison chemistry Professor Helen Blackwell describes agents that effectively interfere with the “quorum sensing” behavior of Staphylococcus aureus (image), a bacterium at the root of a host of human infections ranging from acne to life-threatening conditions such as pneumonia, toxic shock syndrome, and sepsis. “It’s a whole new world for us,” says Dr. Blackwell, whose group identified peptide-based signaling molecules that effectively outcompete the native molecules the bacterium uses to communicate and activate the genes that cause disease. Bacteria employ quorum sensing to assess their population density and coordinate certain behaviors. They do so through the use of pheromone-like chemicals, which bind to receptors either in the bacterial cell or on its surface and tell it if there are enough companion bacteria around to switch on genes that perform certain functions. In the case of Staphylococcus aureus, quorum sensing activates toxin production, manifesting disease in the host.Interfering with bacterial quorum sensing to stymie disease is considered a promising new antibiotic strategy, says Dr. Blackwell. Staph, she adds, is an excellent target as the bacterium is not only a prevalent pathogen, but some strains, notably methicillin-resistant Staphylococcus aureus or MRSA, have developed resistance to commonly used antibiotics such as penicillin and its derivatives. The new compounds synthesized by Dr.
Researchers have pinpointed a catalytic trigger for the onset of Alzheimer’s disease – when the fundamental structure of a protein molecule changes to cause a chain reaction that leads to the death of neurons in the brain. For the first time, scientists at Cambridge’s Department of Chemistry have been able to map in detail the pathway that generates “aberrant” forms of proteins that are at the root of neurodegenerative conditions such as Alzheimer’s. They believe the breakthrough is a vital step closer to increased capabilities for earlier diagnosis of neurological disorders such as Alzheimer’s and Parkinson’s, and opens up possibilities for a new generation of targeted drugs, as scientists say they have uncovered the earliest stages of the development of Alzheimer’s that drugs could possibly target. The study, published online on May 20, 2013 in PNAS, is a milestone in the long-term research established in Cambridge by Professor Christopher Dobson and his colleagues, following the realization by Dr. Dobson of the underlying nature of protein ‘misfolding’ and its connection with disease over 15 years ago. The research is likely to have a central role to play in diagnostic and drug development for dementia-related diseases, which are increasingly prevalent and damaging as populations live longer. “There are no disease-modifying therapies for Alzheimer’s and dementia at the moment, only limited treatment for symptoms. We have to solve what happens at the molecular level before we can progress and have real impact,” said Dr Tuomas Knowles, lead author of the study and long-time collaborator of Professor Dobson’s. “We’ve now established the pathway that shows how the toxic species that cause cell death, the oligomers, are formed.