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December 7, 2010, 7:06 AM CT

Questions about genetic testing of newborns

Questions about genetic testing of newborns
Required genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

"Eventhough newborn screening undoubtedly saves lives, some families are thrown on a journey of great uncertainty," said UCLA sociology professor Stefan Timmermans, the study's main author. "Rather than providing clear-cut diagnoses, screening of an entire population has created ambiguity about whether infants truly have a disease and even what the disease is." .

The study, which appears in the recent issue of the Journal of Health and Social Behavior, describes these families as "the collateral damage of newborn screening," an unanticipated consequence of the expansion of required screening for a wide range of conditions in 2005.

"Basically you're telling families of a newborn, 'Congratulations, but your child may have a rare genetic condition. We just don't know, and we don't know when we'll know,'" Timmermans said.

Conducted with Mara Buchbinder, who earned a doctorate in anthropology at UCLA and is now an assistant professor of social medicine at the University of North CarolinaChapel Hill, the study paints a picture of families caught in limbo as they wait months for conclusive evidence that their children are out of the woods for conditions that have been linked to schizophrenia, mental retardation, heart and lung disease, coma and sudden death.........

Posted by: Scott      Read more         Source


November 30, 2010, 7:51 AM CT

Acupuncture changes brain's perception of pain

Acupuncture changes brain's perception of pain
Using functional magnetic resonance imaging (fMRI), scientists have captured pictures of the brain while patients experienced a pain stimulus with and without acupuncture to determine acupuncture's effect on how the brain processes pain. Results of the study, which the scientists say suggest the effectiveness of acupuncture, were presented today at the annual meeting of the Radiological Society of North America (RSNA).

"Until now, the role of acupuncture in the perception and processing of pain has been controversial," said lead researcher Nina Theysohn, M.D., from the Department of Diagnostic and Interventional Radiology and Neuroradiology at University Hospital in Essen, Gera number of. "Functional MRI gives us the opportunity to directly observe areas of the brain that are activated during pain perception and see the variances that occur with acupuncture".

fMRI measures the tiny metabolic changes that take place in an active part of the brain, while a patient performs a task or is exposed to a specific external stimulus.

In the study, conducted in close collaboration with the Department of Complementary and Integrative Medicine at University of Duisburg-Essen, 18 healthy volunteers underwent fMRI while an electrical pain stimulus was attached to the left ankle. Acupuncture needles were then placed at three places on the right side, including between the toes, below the knee, and near the thumb. With the needles in place, fMRI was repeated while electrical currents were again directed at the left ankle. The scientists then compared the images and data obtained from the fMRI sessions with no acupuncture to those of the fMRI sessions with acupuncture.........

Posted by: Janet      Read more         Source


November 23, 2010, 7:54 AM CT

Thermotherapy instead of chemotherapy?

Thermotherapy instead of chemotherapy?
Ishwar Puri, professor and head of the engineering science and mechanics department at Virginia Tech, is a member of the research team that introduced thermotherapy to destroy cancer cells.

Credit: Virginia Tech Photo

Using hyperthermia, Virginia Tech engineering scientists and a colleague from India unveiled a new method to target and destroy malignant cells. The research was presented at the 63rd annual meeting of the American Physical Society Nov. 23 in Long Beach, Calif.

The cancer therapy uses hyperthermia to elevate the temperature of tumor cells, while keeping the surrounding healthy tissue at a lower degree of body heat. The researchers used both in vitro and in vivo experiments to confirm their findings.

The collaborators are Monrudee Liangruksa, a Virginia Tech graduate student in engineering science and mechanics, and her thesis adviser, Ishwar Puri, professor and head of the department, along with Ranjan Ganguly of the department of power engineering at Iadavpur Univesity, Kolkata, India.

Liangruska of Bangkok, Thailand, presented the paper at the meeting.

In an interview previous to the presentation, Puri explained that to further perfect the technique they used ferrofluids to induce the hyperthermia. A ferrofluid is a liquid that becomes strongly magnetized in the presence of a magnetic field. The magnetic nanoparticles are suspended in the non-polar state.

"These fluids can then be magnetically targeted to malignant tissues after intravenous application," Puri said. "The magnetic nanoparticles, each billionths of a meter in size, seep into the tissue of the tumor cell due to the high permeability of these vessels."........

Posted by: Janet      Read more         Source


November 18, 2010, 7:09 AM CT

Insight into the Cause of Common Dementia

Insight into the Cause of Common Dementia
Scientists at the Mayo Clinic campus in Florida have found a clue as to how some people develop a form of dementia that affects the brain areas linked to personality, behavior, and language.

In the Nov. 17 online issue of the American Journal of Human Genetics, the researchers write that they discovered a link between two proteins - progranulin and sortilin - they say might open new avenues for the therapy of frontotemporal lobar degeneration (FTLD), which occurs in the frontal lobe and temporal lobe of the brain. This form of dementia, which is currently untreatable, generally occurs in younger people, in comparison to other common neurodegenerative disorders such as Alzheimer's disease.

"We now can look for a direct link between these two proteins and the development of FTLD," says the study's main author, neuroscientist Rosa Rademakers, Ph.D. "The hope is that if we do find a strong association, it might be possible to manipulate levels of one or both of these proteins therapeutically."

Coincidentally, a research group from Yale University led by Stephen Strittmatter, M.D., Ph.D., has also pinpointed sortilin's association with progranulin - thus confirming Mayo's results. Their study is being published in Neuron, also on Nov. 17.

FTLD is a family of brain diseases that are believed to share some common molecular features. One is the presence of mutations in the gene that produces tau protein in neurons. The other is mutations in the progranulin gene that Mayo Clinic scientists and their colleagues discovered in 2006. They observed that 5 to 10 percent of patients with FTLD have a mutation in this gene, and that these mutations lead to a substantial loss of normal progranulin protein production, and development of FTLD.........

Posted by: Daniel      Read more         Source


November 17, 2010, 7:51 AM CT

Progress in Alzheimer's disease

Progress in Alzheimer's disease
New studies identify brain changes in people with Alzheimer's disease. The results give scientists a greater understanding of the disease and may help at-risk individuals by improving early detection. New animal research also shows a novel approach to Alzheimer's vaccine design that may avoid dangerous side effects. These new results were reported at Neuroscience 2010, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news on brain science and health.

About 5.3 million people have Alzheimer's disease, as per the Alzheimer's Association. With the aging baby boomer population, Alzheimer's will continue to affect more people worldwide. Better diagnostic techniques may help identify the disease at earlier, potentially more treatable stages.

Today's new findings show that:.
  • People with Alzheimer's disease show structural changes in the caudate nucleus, a brain structure typically linked to movement disorders such as Parkinson's disease, suggesting that the disease produces broader damage in the brain than previously thought (Sarah Madsen, abstract 348.4, see attached summary).
  • People who are at risk for Alzheimer's disease exhibit a structural change in portions of the cerebral cortex, which is largely responsible for reasoning, memory and other "higher function" tasks. The findings may help identify those who would most benefit from early intervention (Sarah George, abstract 756.9, see attached summary).........

    Posted by: Daniel      Read more         Source


October 19, 2010, 8:50 AM CT

Bioelectrical signals turn cells cancerous

Bioelectrical signals turn cells cancerous
An electrical switch for melanoma: biologists at Tufts University have discovered that a change in membrane voltage in newly identified "instructor cells" can cause stem cells' descendants to trigger melanoma-like growth in pigment cells (melanocytes). Hyperpigmentation can be seen in the treated tadpole embryo (B, red arrows), but not in the control embryo (A). The pigment cells not only grew in greater numbers but also formed long, branch-like shapes and invaded neural tissues, blood vessels and gut in a pattern typical of metastasis. Discovery of this novel bioelectric signal and cell type could aid in the prevention and treatment of diseases like cancer and vitiligo as well as birth defects. Tufts biologists manipulated the electrical properties of a special, sparse cell population present throughout the embryo by using the common anti-parasitic drug ivermectin to open the glycine gated chloride channel (GlyCl). The GlyCl channel is one of the many ion channels that control cellular membrane voltage and is a marker of this unique "instructor cell" population. Changing the chloride ion level to hyperpolarize or depolarize the cells in turn triggered abnormal growth in distant pigment cells derived from the neural crest stem cells.

Credit: Photo courtesy of Michael Levin-Tufts University

Biologists at Tufts University School of Arts and Sciences have discovered that a change in membrane voltage in newly identified "instructor cells" can cause stem cells' descendants to trigger melanoma-like growth in pigment cells. The Tufts team also observed that this metastatic transformation is due to changes in serotonin transport. The discovery could aid in the prevention and therapy of diseases like cancer and vitiligo as well as birth defects.

The research is published in the October 19, 2010, issue of Disease Models and Mechanisms

"Discovering this novel bioelectric signal and new cell type could be very important in efforts to understand the mechanisms that coordinate stem cell function within the host organism and prevent tumor growth. Ultimately it could enable us to guide cell behaviors toward regenerative medicine applications," said research leader and senior author Michael Levin, Ph.D., professor of biology and director of the Center for Regenerative and Developmental Biology at Tufts.

Co-authors on the paper were Tufts Postdoctoral Associate Douglas Blackiston, Research Associate Professor Dany S. Adams, Research Associate Joan M. Lemire and doctoral student Maria Lobikin.

Misregulation of stem cells is a known factor in cancers and birth defects. Recent studies have shown that stem cells exhibit unique electrophysiological profiles and that ionic currents controlled by ion channel proteins play important roles during stem cell differentiation. However, while a number of genetic and biochemical signaling pathways play a part in regulating the interplay between cells and the host organism, the role of bioelectric signals remains poorly understood, especially when looking beyond artificial cultures to entire living organisms.........

Posted by: Janet      Read more         Source


October 5, 2010, 7:13 AM CT

Promise for Type 1 diabetes treatment

Promise for Type 1 diabetes treatment
A research team from the University of British Columbia and the Child & Family Research Institute (CFRI) at BC Children's Hospital has identified the role of a type of T cell in type 1 diabetes that may lead to new therapy options for young patients.

Also known as juvenile diabetes, type 1 diabetes is an autoimmune disease primarily affecting children and young adults. In patients with type 1 diabetes, the body attacks itself by destroying insulin-producing cells in the pancreas that regulate glucose, or blood sugar.

Led by Rusung Tan, a Pathology professor in the UBC Faculty of Medicine and co-head of the Immunity in Health and Disease research cluster at CFRI, the research team has identified the increased presence of Th17 cells, a type of T cell discovered in 2005, in children newly diagnosed with type 1 diabetes.

"T cells are white blood cells and key members of the immune system that control infections," says Tan, who is also a member of the Department of Pathology & Laboratory Medicine at BC Children's Hospital and a senior scholar of the Michael Smith Foundation for Health Research. "In healthy individuals, Th17 cells provide a strong defence against bacteria and viruses by guiding the immune system to strongly attack infected targets within our bodies".........

Posted by: JoAnn      Read more         Source


September 25, 2010, 8:26 AM CT

How stress controls our genes

How stress controls our genes
Stress has become a main disease states in the developed world. But what is stress? It depends on from where you look. You may experience stress as something that affects your entire body and mind, the causes of which are plentiful. But if we zoom in on the building bricks of the body, our cells, stress and its causes are defined somewhat differently. Stress can arise at the cellular level after exposure to pollution, tobacco smoke, bacterial toxins etc, where stressed cells have to react to survive and maintain their normal function. In worst case scenario, cellular stress can lead to development of disease.

Scientists from Dr.Klaus Hansen's group at BRIC, University of Copenhagen, have just shown that external factors can stress our cells through the control of our genes. "We observed that stress-activating factors can control our genes by turning on certain genes that were supposed to be silenced. It is very important that some genes are on and others are off in order to ensure normal foetal development and correct function of our cells during the later part of life" says Dr. Klaus Hansen. Simmi Gehani, PhD-student in the Hansen group, observed that exposing human cells to a stress-activating compound turned on silenced genes. Even brief changes in gene activation can be disastrous during foetal development as establishment of correct cellular identity can be disturbed in our cells. But altered gene activity can also have consequences in the adult body. "For example, one could imagine that prolonged stress causes nerve cells in the brain to produce hormones and other signalling molecules they do not normally produce and this can disturb normal brain function" says Simmi Gehani.........

Posted by: JoAnn      Read more         Source


September 23, 2010, 6:35 AM CT

New TB Vaccine In Clinical Trial

New TB Vaccine In Clinical Trial
At an international gathering of TB vaccine scientists in Tallinn today, the Aeras Global TB Vaccine Foundation announced it will initiate a clinical trial of an investigational live recombinant tuberculosis vaccine to be led by scientists at Saint Louis University in St. Louis, Missouri, USA. The announcement was made at the Second Global Forum on TB Vaccine Development.

Building on more than a decade of global scientific research, Aeras researchers have engineered a new investigational vaccine, called AERAS-422, which will undergo clinical trials to evaluate its properties for interrupting TB at all stages of infection, including initial infection, latency and reactivation.

"Moving our lead in-house vaccine from the laboratory into clinical testing is an important milestone for Aeras and its partners. Finding a potential replacement for the currently available TB vaccine, which was invented almost 90 years ago, is a primary goal in our mission," said Thomas G. Evans, MD, Aeras' Chief Scientific Officer. "Based on data from pre-clinical studies, we are cautiously optimistic about the potential of this vaccine candidate to be safer and more immunogenic than the currently available vaccine".

The new vaccine, called AERAS-422, is a modernized version of the currently used TB vaccine - Bacille Calmette Guerin (BCG). BCG is widely viewed as insufficient in preventing pulmonary TB, and this trial is part of a wider global effort to develop safer and more immunogenic TB vaccines that would be effective against all forms of TB.........

Posted by: Mark      Read more         Source


September 16, 2010, 8:47 AM CT

How bacteria acquire immunity

How bacteria acquire immunity
In a newly released study this week, Rice University researchers bring the latest tools of computational biology to bear in examining how the processes of natural selection and evolution influence the way bacteria acquire immunity from disease.

The study is available online from Physical Review Letters It builds upon a main discoveries made possible by molecular genetics in the past decade -- the revelation that bacteria and similar single-celled organisms have an acquired immune system.

"From a purely scientific perspective, this research is teaching us things we couldn't have imagined just a few years ago, but there's an applied interest in this work as well," said Michael Deem, the John W. Cox Professor in Biochemical and Genetic Engineering and professor of physics and astronomy at Rice. "It is believed, for instance, that the bacterial immune system uses a process akin to RNA interference to silence the disease genes it recognizes, and biotechnology companies may find it useful to develop this as a tool for silencing particular genes".

The newly released study by Deem and graduate student Jiankui He focused on a portion of the bacterial genome called the "CRISPR," which stands for "clustered regularly interspaced short palindromic repeats." The CRISPR contain two types of DNA sequences. One type -- short, repeating patterns that first attracted scientific interest -- is what led to the CRISPR name. But researchers more recently learned that the second type -- originally thought of as DNA "spacers" between the repeats -- is what the organism uses to recognize disease.........

Posted by: Mark      Read more         Source



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Did you know?
Scientists at Yale have brought to light a mechanism that regulates the way an internal organelle, the Golgi apparatus, duplicates as cells prepare to divide, according to a report in Science Express.Graham Warren, professor of cell biology, and colleagues at Yale study Trypanosoma brucei, the parasite that causes Sleeping Sickness. Like a number of parasites, it is exceptionally streamlined and has only one of each internal organelle, making it ideal for studying processes of more complex organisms that have a number of copies in each cell.

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