Genetherapy

Stem cells offer hope to vision impaired

October 15th, 2014

Health officials hit back at e-cig claims

Health professionals say more research is needed to prove using e-cigarettes is a good way to quit smoking.

According to new health figures, Australian women are far less likely to survive a heart attack than men.

Research says high factor sunscreen can't be relied on to protect against the deadliest skin cancer form.

A British study using skin electrodes has found men experience greater levels of emotion than women.

High protein diets may protect against stroke, especially if they contain a lot of fish, scientists say.

Driving too much is bad for your health, according to a study of 40-thousand middle-aged Australians.

Researchers say the financial crisis may have led to thousands of suicides in Europe and North America.

Biologists have devised a new weapon against malaria by genetically engineering mosquitoes.

Stomach-shrinking bariatric surgery beats other forms of treatment in bringing about remission of diabetes.

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Stem cells offer hope to vision impaired

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Stem Cells Seem Safe in Treating Eye Disease

October 15th, 2014

A treatment based on embryonic stem cells clears a key safety hurdle, and might help restore vision.

When stem cells were first culled from human embryos sixteen years ago, scientists imagined they would soon be treating diabetes, heart disease, stroke, and many other diseases with cells manufactured in the lab.

Its all taken longer than they thought. But today, a Massachusetts biotech firm reported results from the largest, and longest, human test of a treatment based on embryonic stem cells, saying it appears safe and may have partly restored vision to patients going blind from degenerative diseases.

Results of three-year study were described today in the Lancet by Advanced Cell Technology and collaborating eye specialists at the Jules Stein Eye Institute in Los Angeles who transplanted lab-grown cells into the eyes of nine people with macular degeneration and nine with Stargardts macular dystrophy.

The idea behind Advanced Cells treatment is to replace retinal pigment epithelium cells, known as RPE cells, a type of caretaker tissue without which a persons photoreceptors also die, with supplies grown in laboratory. It uses embryonic stem cells as a starting point, coaxing them to generate millions of specialized retina cells. In the study, each patient received a transplant of between 50,000 and 150,000 of those cells into one eye.

The main objective of the study was to prove the cells were safe. Beyond seeing no worrisome side effects, the researchers also noted some improvements in the patients. According to the researchers half of them improved enough to read two to three extra lines on an eye exam chart, results Robert Lanza, chief scientific officer of Advanced Cell, called remarkable.

We have people saying things no one would make up, like Oh I can see the pattern on my furniture, or now I drive to the airport, he says. Clearly there is something going on here.

Lanza stressed the need for a larger study, which he said the company hoped to launch later this year in Stargardts patients. But if the vision results seen so far continue, Lanza says this would be a therapy.

Some eye specialists said its too soon to say whether the vision improvements were real. The patients werent examined by independent specialists, they said, and eyesight in patients with low vision is notoriously difficult to measure. That leaves plenty of room for placebo effects or unconscious bias on the part of doctors.

When someone gets a treatment, they try really hard to read the eye chart, says Stephen Tsang, a doctor at Columbia University who sees patients losing their vision to both diseases. Its common for patients to show quick improvements, he says, although typically not as large as what Advanced Cell is reporting.

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Stem Cells Seem Safe in Treating Eye Disease

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Two-Faced Gene: SIRT6 Prevents Some Cancers but Promotes Sun-Induced Skin Cancer

October 15th, 2014

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Newswise A new study published in Cancer Research shows SIRT6a protein known to inhibit the growth of liver and colon cancerscan promote the development of skin cancers by turning on an enzyme that increases inflammation, proliferation and survival of sun-damaged skin cells.

Previously considered protective, SIRT6 is part of a family of seven proteins called sirtuins that help regulate genomic stability and prevent some of the genetic flaws associated with aging. SIRT6 helps repair DNA damage, which can lead to cancer. This study, in the journals October 15 issue, reveals its activity can vary from one tissue type to another.

Although SIRT6 suppressed tumor growth in some cell types, we discovered that it encouraged cancer development in others, particularly in skin cells, said study author Yu-Ying He, PhD, assistant professor of medicine at the University of Chicago.

We found more SIRT6 protein in sun-damaged squamous cell carcinoma cells than in healthy, sun-protected human skin, she said. When we deleted SIRT6 from skin cells in mice, tumor development decreased.

To understand how SIRT6 contributed to the onset of skin cancer the researchers looked at its effects on COX-2, an enzyme responsible for inflammation. COX-2 also promotes cell proliferation and survival, however, two hallmarks of cancer cells. When the researchers increased expression of SIRT6, COX-2 became more abundant. When they inhibited SIRT6 expression, COX-2 levels decreased.

They also found that exposure to ultraviolet-B light, a cancer-causing component of sunshine, could trigger increased expression of SIRT6 in skin cells. This led to the production of COX-2, which contributed to the development of skin cancers.

Our findings underscore a critical role for SIRT6 in the skin damage cause by ultraviolet light, He said, This adds to our understanding of the mechanisms of skin carcinogenesis. It suggests that SIRT6 could provide a useful target for cancer prevention. We are searching for safe and effective ways to inhibit it.

The National Institutes of Health, The American Cancer Society and the University of Chicago Cancer Research Center supported the study. Additional authors were Mei Ming, Weinhong Han, Baozhong Zhao and Mahesh Gupta from the University of Chicago; Nagalongam Sundaresan from the Indian Institute of Science, Bangalore, India; and Chu-Xia Deng, from the National Institute of Diabetes, Digestive and Kidney Diseases (NIH).

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What Is The Definition Of Human gene therapy – Video

October 15th, 2014

What Is The Definition Of Human gene therapy
Visit our website for text version of this Definition and app download. http://www.medicaldictionaryapps.com Subjects: medical terminology, medical dictionar...

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Spinal cord injury victims may benefit from stem cell transplantation studies

October 14th, 2014

PUBLIC RELEASE DATE:

13-Oct-2014

Contact: Robert Miranda cogcomm@aol.com Cell Transplantation Center of Excellence for Aging and Brain Repair

Putnam Valley, NY. (Oct. 13, 2014) Two studies recently published in Cell Transplantation reveal that cell transplantation may be an effective treatment for spinal cord injury (SCI), a major cause of disability and paralysis with no current restorative therapies.

Using laboratory rats modeled with SCI, researchers in Spain found in laboratory tests on cells harvested from rats - specifically ependymal progenitor cells (epSPCs), multipotent stem cells found in adult tissues surrounding the ependymal canal of the spinal cord - responded to a variety of compounds through the activation of purinergic receptors P2X4, P2X7, P2Y1 and P2Y4. In addition, the epSPCs responded to adenosine triphosphate (ATP) through this activation. ATP, a chemical produced by a wide variety of enzymes that works to transport energy within cells, is known to accumulate at the sites of spinal cord injury and cooperate with growth factors that induce remodeling and repair.

"The aim of our study was to analyze the expression profile of receptors in ependymal-derived neurospheres and to determine which receptors were functional by analysis of intercellular Ca2+ concentration," said study co-author Dr. Rosa Gomez-Villafuertes of the Department of Biochemistry at the Veterinary School at the University of Complutense in Madrid, Spain. "We demonstrated for the first time that epSPCs express functional ionotropic P2X4 and P2X7 and metabotropic P2Y1 and P2Y4 receptors that are able to respond to ATP, ADP and other nucleotide compounds."

When they compared the epSPCs from healthy rats to epSPCs from rats modeled with SCI, they found that a downregulation of P2Y1 and an upregulation of P2Y4 had occurred in the epSPCs in the SCI group.

"This finding opens an important avenue for potential therapeutic alternatives in SCI treatments based on purinergic receptor modulation," the researchers concluded.

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The study will be published in a future issue of Cell Transplantation and is currently freely available on-line as an unedited early e-pub at: http://www.ingentaconnect.com/content/cog/ct/pre-prints/content-CT-1257_Gomez_Villafuertes.

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Stem cell discovery challenges dogma on how fetus develops; holds insights for liver cancer and reg

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Greg Williams newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine @mountsinainyc

A Mount Sinai-led research team has discovered a new kind of stem cell that can become either a liver cell or a cell that lines liver blood vessels, according to a study published today in the journal Stem Cell Reports. The existence of such a cell type contradicts current theory on how organs arise from cell layers in the embryo, and may hold clues to origins of, and future treatment for, liver cancer.

Thanks to stem cells, humans develop from a single cell into a complex being made up of more than 200 cell types. The original, single human stem cell, the fertilized embryo, has the potential to develop into every kind of human cell. Stem cells multiply (proliferate) and specialize (differentiate) until millions of functional cells result, including liver cells (hepatocytes), blood vessel cells (endothelial cells), muscle cells, bone cells, etc.

In the womb, the human embryo early on becomes three "germ" layers of stem cells the endoderm, mesoderm and ectoderm. The long-held consensus was that the endoderm goes on to form the liver and other gut organs; the mesoderm the heart, muscles and blood cells; and the ectoderm the brain and skin. Researchers have sought to determine the germ layer that yields each organ because these origins hold clues to healthy function and disease mechanisms in adults.

"We found a stem cell that can become either a liver cell, which is thought to originate in the endoderm, or an endothelial cell that helps to from a blood vessel, which was thought to derive from the mesoderm," said Valerie Gouon-Evans, PhD, Assistant Professor in the Department of Developmental and Regenerative Biology and Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, and lead author for the study. "Our results go against traditional germ layer theory, which holds that a stem cell can only go on to become cell types in line with the germ layer that stem cell came from. Endothelial cells may arise from both the endoderm and mesoderm."

Cell Growth Plusses and Minuses

Beyond the womb, many human organs contain pools of partially differentiated stem cells, which are ready to differentiate into specific replacement cells as needed. Among these are stem cells that "know" they are liver cells, but have enough "stemness" to become more than one cell type.

By advancing the understanding of stem cell processes in the liver, the study offers insights into mechanisms that drive liver cancer. The rapid growth seen in cells as the fetal liver develops is similar in some ways to the growth seen in tumors. Among the factors that make both possible is the building of blood vessels that supply nutrients and oxygen.

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Stem-cell success poses immunity challenge for diabetes

October 14th, 2014

Suzanne Kreiter/Boston Globe/Getty

A research team led by Douglas Melton (left) has made insulin-secreting cells using human stem cells.

Each year, surgeon Jose Oberholzer frees a few people with type1 diabetes from daily insulin injections by giving them a transplant of the insulin-secreting -cells that the disease attacks. But it is a frustrating process. Harvested from a cadavers pancreas, the -cells are in short supply and vary in quality. And the patients must take drugs to suppress their immune response to the foreign cells, which can in turn cause kidney failure.

On 9October, stem-cell researcher Douglas Melton of Harvard University in Cambridge, Massachusetts, and his colleagues reported an advance that has the potential to overcome Oberholzers frustrations and allow many more people with type1 diabetes to receive transplants. Melton and his team have achieved a long-term goal of stem-cell science: they have created mature -cells using human stem cells that can be grown from a potentially unlimited supply, and that behave like the real thing (F.W.Pagliuca etal. Cell 159, 428439; 2014). The next challenge is to work out how to shield these -cells from the bodys immune response.

Researchers had previously created immature -cells from stem cells and transplanted them into diabetic mice. But they take months to mature into insulin-secreting cells, and it is unclear whether they would do so in humans.

The -cells reported by Meltons team were grown from adult cells that had been reprogrammed to resemble stem cells. In response to glucose, the -cells quickly secreted insulin, which the body uses to regulate blood sugar. When implanted in diabetic mice, the cells relieved symptoms within two weeks. The -cells even formed clusters that are similar to those found in a pancreatic structure called the islet of Langerhans. If you took these cells and showed them to somebody without telling them what they are, I guarantee you an expert would say that is a perfect human islet cell, says Oberholzer, who is working with Meltons team to test the cells in non-human primates.

A remaining hurdle is shielding the cells from immune attack. This is necessary if the treatment is to become more widely available, because immunosuppressant drugs can be justified only in the most severe cases of diabetes. And although mature -cells could be derived from a patients own skin cells, type1 diabetes is an autoimmune disease, so transplanted cells would still be vulnerable to attack.

One solution might be to encapsulate the cells in a credit-card-sized, biocompatible sheath made by ViaCyte of San Diego, California. The company will implant its first device loaded with immature -cells in a patient on 21October. Studies in animals have been promising, but some researchers worry that the cells inside the device are packed too densely and might become starved of oxygen and nutrients.

Another option is to coat cells in a protective hydrogel, which results in thousands of separate balls of cells. But a potential drawback is that it would be much harder to remove such cells if there was a safety concern, says Albert Hwa, director of discovery science at JDRF, a diabetes-research foundation in New York.

Neither technique avoids the bodys tendency to enclose foreign bodies inside scar tissue, which could cut the transplanted cells off from nutrients. Bioengineer Daniel Anderson of the Massachusetts Institute of Technology in Cambridge and his team are screening chemical compounds for a hydrogel that does not trigger this. Some, used with Meltons cells, have shown promise in unpublished studies of diabetic primates, he says.

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Stem-cell success poses immunity challenge for diabetes

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Stem Cell Therapy For ALS Gets FDA's Fast Track Designation

October 14th, 2014

By C. Rajan, contributing writer

The U.S. FDA has just granted BrainStorm Cell Therapeutics novel stem cell therapy, NurOwn, Fast Track status for the treatment of amyotrophic lateral sclerosis (ALS), the company announced via press release.

"We are pleased that the FDA has granted Fast Track status for NurOwn as this will allow us greater and more frequent dialogue with the Agency as we continue the development of this ground-breaking cell therapy for the treatment of ALS," said Tony Fiorino, MD, PhD, CEO of BrainStorm. "We expect Fast Track designation, which recognizes the potential of NurOwn as to address an unmet medical need in ALS, to help speed and improve our development program."

Israeli biotech company BrainStorm is developing novel adult stem cell technologies for neurodegenerative diseases, such as ALS. The company licensed the exclusive rights to the NurOwn technology from Ramot, the technology transfer company of Tel Aviv University.

NurOwn is a personalized stem cell product made from autologous mesenchymal stem cells. These adult stem cells are obtained from the patients bone marrow and are induced to secrete neurotrophic factors, which are growth factors that can stimulate the survival and maintenance of neurons that degenerate in neurologic disorders.

NurOwn is currently being studied in randomized, double-blind, placebo-controlled phase 2 clinical trials in ALS patients in both Israel and the U.S. Reuters reports that the last patient visit has been completed in the phase 2a clinical trial in Jerusalem. The company expects to release final results of the study by the end of this year. The U.S. arm of the Phase 2 study is being conducted at three sites in the U.S., and is expected to be wrapped up in early 2015.

The FDA's Fast Track program aims to speed up the development of new drugs and biologics in order to get them to patients suffering from serious, unmet medical needs. The Fast Track designation will allow BrainStorm Cell to submit an NDA on a rolling basis and will grant the company more communication and support from FDA during the development process.

ALS, also known as Lou Gehrig's disease, is a rapidly progressive neurological disease that results in death within 2 to 5 years of diagnosis in most cases, and less than 20 percent of patients live more than 5 years after onset of symptoms. The relatively rare condition affects about 2 persons in every 100,000, with approximately 5,600 new cases diagnosed every year in the U.S, according to the ALS Association.

There is no cure for the disease to date, although the only approved ALS drug, Riluzole, has demonstrated its ability to extend survival by at least a few months.

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One MS patient's 'starting line' for stem cell therapy

October 14th, 2014

By Richard M. Cohen

image courtesy Richard Cohen

I am one of twenty struggling every day with multiple sclerosis to be included in an innovative, phase one stem cell clinical trial at the Tisch MS Research Center of New York. Now theres a mouthful. Please let me explain. Many of us read tidbits about cell therapy and think it simply is space-age medicine that will be launched in the future.

In fact, we are at the starting line now, and the race has begun. A phase one trial tests safety. The group is small, and all are treated with the real thing. No placebos, sugar pills. The trial tests autologous cells, which mean our own. That eliminates rejection and alters risk. No new medical procedure comes risk-free, but the dangers are minimal. The stem cells are pulled from bone marrow harvested from our breast bones. Sounds hideous. It is not.

In this trial, the stem cells are infused directly into the spinal column. Nope. Not painful at all. Then we watch and wait. Results, if there are to be any, can take many months to show themselves. This particular procedure has never been used before. I was the first in the group to be treated, making me the first in the world to have this done. For more than forty years, I have lived with an illness that left no room for hope. Suddenly, that has changed, though change does not necessarily come easily.

The expectation game is dangerous. No one really knows what to expect from this experiment. My doctor makes that point over and over. Yet it is hard to control the fantasies that inevitably pop into my head. The possibility of restoring at least some vision when I have been legally blind for years is enticing, to say the least. I used to run and race or simply hike up country hills. Now I hobble on a cane. I am lucky if I can stay on my feet walking two city blocks. The possibility of restored mobility takes my breath away.

I know better than to go too far down these roads in my mind, but that visual journey is unavoidable. Maybe that is okay. Hope is a funny thing. We need something to hope for. Any doctor will tell you attitude is an important factor in fighting a disease. I have learned the power of remaining positive. We need fuel to keep the engine running. Those flights of fancy, imagining we can be better than we are, to some extent can become self-fulfilling prophecies.

This is an exciting period in the history of medicine. That probably has been said throughout the ages. Science does not stand still. No one can see around the bend. That may be what makes hope possible, the idea that there is something just out of sight that is revolutionary and good, just waiting for us to get there.

Richard M. Cohen writes Journey Man, an independent blog, also carried by The Huffington Post. Cohen is the author of Blindsided, published in 2004, which chronicled his battles with multiple sclerosis and cancer, and Strong at the Broken Places in 2008, both New York Times Best Sellers. Cohens latest book, I Want to Kill the Dog, was published in 2012. Cohen is married to journalist, Meredith Vieira, with whom he has three grown children.

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One MS patient's 'starting line' for stem cell therapy

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Marius Wernig receives New York Stem Cell Foundation's Robertson Stem Cell Prize

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: David McKeon DMcKeon@nyscf.org 212-365-7440 New York Stem Cell Foundation @nyscf

NEW YORK, NY (October 14, 2014) The New York Stem Cell Foundation (NYSCF) announced today that Marius Wernig, PhD, Associate Professor in the Institute for Stem Cell Biology and Regenerative Medicine and the Department of Pathology at Stanford University School of Medicine, is the 2014 recipient of the NYSCF Robertson Stem Cell Prize, which has been awarded since 2011 for extraordinary achievements in translational stem cell research by a young scientist.

Dr. Wernig and his team discovered that human skin cells can be converted directly into functional neurons, termed induced neuronal (iN) cells, in a period of four to five weeks with the addition of just four proteins.

"Dr. Wernig's groundbreaking research has the potential to accelerate all research on devastating neurodegenerative diseases," said Susan L. Solomon, CEO and Co-founder of NYSCF. "His work can impact and accelerate research on multiple sclerosis, Alzheimer's disease, and autism among many other conditions."

At Stanford, Dr. Wernig focuses on using induced pluripotent stem (iPS) cells and iN cells for disease modeling and as potential cellular therapy. This new technique transformed the field of cellular reprogramming by eliminating the need to first create iPS cells, making it easier to generate patient or disease-specific neurons. These cell types hold tremendous therapeutic and translational relevance for patients around the world. Potential applications range from replacing damaged brain tissue to repairing the myelinating nerves lost in multiple sclerosis to identifying novel drugs and treatments for a range of neurological diseases.

In addition to his recent scientific achievements, Dr. Wernig was part of the inaugural class of NYSCF Robertson Stem Cell Investigators in 2010, and is the first NYSCF Robertson Investigator to receive the NYSCF Robertson Stem Cell Prize.

"I am delighted that Dr. Wernig is being recognized with this year's NYSCF Robertson Prize for his important research that has opened entirely new avenues for studying brain diseases. The NYSCF Robertson Prize was created to acknowledge the most important work being down by young stem cell scientists and I am thrilled to see a NYSCF Robertson Investigator go on to receive NYSCF Robertson Prize," said Julian Robertson, whose foundation underwrites the $200,000 prize. The terms of the prize require that the $200,000 stipend be used, at the recipients' discretion, to further support their research.

The NYSCF Robertson Stem Cell Prize will be presented to Dr. Wernig at a ceremony in New York City by Susan L. Solomon on October 14th.

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Can big data make sense of climate change?

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, October 14, 2014 Big Data analytics are helping to provide answers to many complex problems in science and society, but they have not contributed to a better understanding climate science, despite an abundance of climate data. When it comes to analyzing the climate system, Big Data methods alone are not enough and sound scientific theory must guide data modeling techniques and results interpretation, according to an insightful article in Big Data, the highly innovative, peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Big Data website.

In "A Big Data Guide to Understanding Climate Change: The Case for Theory-Guided Data Science," James Faghmous, PhD and Vipin Kumar, PhD, The University of Minnesota--Twin Cities, explore the challenges and opportunities for mining large climate datasets and the subtle differences that are needed compared to traditional Big Data methods if accurate conclusions are to be drawn. The authors discuss the importance of combining scientific theory and First Principles with Big Data analytics and use examples from existing research to illustrate their novel approach.

"This paper is a great example of leveraging the abundance of climate data with powerful analytical methods, scientific theory, and solid data engineering to explain and predict important climate change phenomena," says Big Data Editor-in-Chief Vasant Dhar, Co-Director, Center for Business Analytics, Stern School of Business, New York University.

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About the Journal

Big Data , published quarterly in print and online, facilitates and supports the efforts of researchers, analysts, statisticians, business leaders, and policymakers to improve operations, profitability, and communications within their organizations. Spanning a broad array of disciplines focusing on novel big data technologies, policies, and innovations, the Journal brings together the community to address the challenges and discover new breakthroughs and trends living within this information. Complete tables of content and a sample issue may be viewed on the Big Data website.

About the Publisher

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Current models for predicting outcomes after mild traumatic brain injury perform poorly

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, NY, October 14, 2014For the 5-15% of patients with mild traumatic brain injury (mTBI) who will have lingering physical, behavioral, or cognitive problems 3 to 6 months after their injury, identification of this at-risk population is essential for early intervention. Existing models used to predict poor outcomes after mTBI are unsatisfactory, according to a new study, and new, more relevant predictive factors are different than those used in cases of moderate or severe TBI, as described in the study published in Journal of Neurotrauma, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Neurotrauma website at http://online.liebertpub.com/doi/pdfplus/10.1089/neu.2014.3384 until November 14, 2014.

Hester F. Lingsma and a multidisciplinary, international team of authors evaluated two existing prognostic models for mTBI in patients selected from the TRACK-TBI Pilot observational study carried out at three medical centers in the U.S. Both models performed poorly. Based on further analysis, the authors identified older age, pre-existing psychiatric conditions, and less education as the three strongest predictors of poor outcomes, as they report in the article "Outcome Prediction after Mild and Complicated Mild Traumatic Brain Injury: External Validation of Existing Models and Identification of New Predictors Using the TRACK-TBI Pilot Study."

John T. Povlishock, PhD, Editor-in-Chief of Journal of Neurotrauma and Professor, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, notes that, "this is an extremely important study utilizing the TRACK-TBI database. This meticulously performed investigation highlights the dangers in assessing outcome following mTBI, emphasizing that other comorbid factors such as older age, preexisting psychiatric disorders, and less education, perhaps a function of socioeconomic status, can negatively impact outcome. This important communication should be considered routinely as we move forward in our assessments of outcomes following mTBI, whether or not these outcomes are framed in the context of advanced imaging, biomarker evaluation, and/or other metabolic/functional screens."

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About the Journal

Journal of Neurotrauma is an authoritative peer-reviewed journal published 24 times per year in print and online that focuses on the latest advances in the clinical and laboratory investigation of traumatic brain and spinal cord injury. Emphasis is on the basic pathobiology of injury to the nervous system, and the papers and reviews evaluate preclinical and clinical trials targeted at improving the early management and long-term care and recovery of patients with traumatic brain injury. Journal of Neurotrauma is the official journal of the National Neurotrauma Society and the International Neurotrauma Society. Complete tables of content and a sample issue may be viewed on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.

About the Publisher

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Rare genetic disease protects against bipolar disorder

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Jim Fessenden james.fessenden@umassmed.edu 508-856-2688 University of Massachusetts Medical School @UMassMedNow

WORCESTER, MA A team of scientists led by researchers at the University of Massachusetts Medical School (UMMS) and the University of Miami Miller School of Medicine (UMMSM) have identified what is likely a key genetic pathway underlying bipolar (manic depressive) disorder, a breakthrough that could lead to better drugs for treating bipolar affective disorder, as well as depression and other related mood disorders.

The new findings, published online this week in Nature Molecular Psychiatry, show that a rare genetic dwarfism called Ellis van-Creveld (EvC) syndrome protects against bipolar affective disorder. The discovery was made thanks to decades of translational research in a few Old Order Amish families of Pennsylvania with a high incidence of both diseases. Forty years of documented research across multiple generations showed that no person with EvC has been reported with bipolar disorder.

"No one doubts that bipolar affective disorder has an important, disease causing genetic component," said neurologist and geneticist Edward I. Ginns, MD, PhD, professor of psychiatry at UMMS and lead author of the study. "In our search for the causes of bipolar affective disorder, this is a paradigm changing discovery that could lead to better treatments."

Bipolar affective disorder is a common psychiatric illness characterized by recurring swings from periods of high energy and mania to periods of low energy and sadness. During periods of mania the need for sleep is reduced and a person feels or acts abnormally happy, energetic and impulsive. They often make poorly thought out decisions with little regard for the consequences. Cycles of depression may include crying, poor eye contact with others, and a negative outlook on life. Patients suffering from bipolar disorder have a higher risk for suicide and self-harm and suffer from other ailments, such as heart disease, related to poor lifestyle choices.

Though many factors likely contribute to onset of the disease, various studies over the years have provided ample evidence that there is an important genetic component to the illness. However, previous attempts to isolate individual genes connected to bipolar disorder have been unsuccessful.

In her research among the Old Order Amish, which extends back more than 40 years, Janice A. Egeland, PhD, professor emerita of psychiatry and behavioral sciences at UMMSM and co-author of the current study, found that both EvC and bipolar were prevalent in an extended family descended from the same progenitor. Both conditions clearly travelled together over the generations in a few families extending from this same pioneer. Yet no person with EvC was ever reported with bipolar disorder despite decades of research across multiple generations.

"Few research efforts can claim to have extended over half a century using various building stones to reach a goal," said Dr. Egeland.

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Rare genetic disease protects against bipolar disorder

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Breast cancer genetic screening offers vital information, uncertainty

October 14th, 2014

New technologies, and a little help from the U.S. Supreme Court, have made it possible for large numbers of women to find out whether they carry genetic mutations that increase their risk of breast cancer - a development warmly welcomed by experts in the field.

But the availability and relative affordability of multigene-panel tests can also lead to anxiety and confusion about what course of action to choose, because the risk associated with many of those genes remains unknown.

"Genetic testing holds a lot of potential and a whole lot of uncertainty," said Beth Peshkin, a professor of oncology and senior genetic counselor at Georgetown Universitys Lombardi Comprehensive Cancer Center in Washington.

"The more genes we test, the more variants were likely to find," explained Peshkin. "A recent study found that about 40 percent of people who underwent panel testing had variants, or genetic changes, that we dont know how to interpret."

In 2013 the Supreme Court invalidated Myriad Genetics patents on the two major genes that predispose women to breast and ovarian cancer, ruling that human genes cannot be patented.

Since then, several companies have begun testing for mutations in those genes, BRCA1 and BRCA2, which are responsible for about 80 percent of hereditary breast cancer cases; and the genes have been incorporated into panels that use so-called next-generation sequencing to test for multiple genes simultaneously.

The problem arises because some of the mutations detected in those panels are relatively rare and scientists do not yet know how much additional risk they confer, if any.

In August, the New England Journal of Medicine published a study showing that certain mutations in a gene called PALB2 were associated with a lifetime risk of between 33 percent (for carriers with no family history of breast cancer) and 58 percent (for those with a strong family history). Thats similar to the risk associated with a BRCA2 mutation, but lower than that for BRCA1.

The average lifetime risk for an American woman is about 12 percent. The vast majority of breast cancer cases are not linked to any known hereditary factor.

"Investigators from 14 centers around the world pooled data from all of their families with PALB2 mutations," said Dr. Jane Churpek, co-director of the Comprehensive Cancer Risk and Prevention Program at University of Chicago Medicine. "So, for the first time, we had a large enough series to get an estimate (of risk) for carriers of mutations in this gene. The hope is well see similar efforts for each gene on these panels."

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Penn Medicine's Basser Research Center for BRCA announces $6.9 million in new grants

October 14th, 2014

PUBLIC RELEASE DATE:

14-Oct-2014

Contact: Katie Delach katie.delach@uphs.upenn.edu 215-349-5964 University of Pennsylvania School of Medicine @PennMedNews

PHILADELPHIA - The University of Pennsylvania's Basser Research Center for BRCA has announced $6.9 million to research teams both at Penn and at five other institutions across the United States, aimed at advancing the care of patients living with BRCA1 and BRCA2 mutations through multi-disciplinary collaboration. Penn Medicine's Abramson Cancer Center, home to the Basser Center, will serve as steward of the grants.

The new funding includes the first recipients of the new Basser External Research Grant Program, a unique funding mechanism for high-impact translational cancer research projects with the potential to advance rapidly into clinical practice.

"The projects funded this year are at the forefront of BRCA-related cancer research, and will help bring targeted therapies to a new level," said Susan Domchek, MD, executive director of the Basser Research Center for BRCA and the Basser Professor of Oncology at the Abramson Cancer Center. "BRCA research has come so far since the initial discovery twenty years ago, and working in collaboration with colleagues across the nation, we are making strides every day toward providing better care for these high-risk patients."

Among the five external recipients is a multi-institutional team led by Junjie Chen, PhD, chair of the department of Experimental Radiation Oncology at the University of Texas MD Anderson Cancer Center in Houston. The group is the recipient of the first Basser Team Science Award, which will fund a project focusing on developing new forms of chemotherapy for BRCA1/2-related cancers, and overcoming resistance to these medications.

Other recipients of funding through the External Grants Program include research teams at Johns Hopkins University, Fox Chase Cancer Center, and Drexel University College of Medicine, all of whom will work to enhance the effectiveness of various therapies which have potential for alleviating BRCA1/2-related cancers. For example, the project led by researchers at Drexel University College of Medicine will work to analyze the effect of specific genetic inhibitors in BRCA1/2 cells alone and in combination with therapeutic drugs, and to study the mechanisms of homologous recombination a key pathway to repairing DNA damage in human cells. In contrast, the project led by the team at Fox Chase Cancer Center, will aim to identify and characterize additional BRCA1 mutations that are capable of contributing to DNA repair and drug resistance. Researchers at Columbia University, who will design and conduct a community outreach effort aimed at minority women to determine eligibility for genetic counseling, also received funding.

The External Grants Program was made possible by a $5 million donation made earlier this year by University of Pennsylvania alumni Mindy and Jon Gray. Their latest gift brings their total giving to Penn to $30 million, following a $25 million gift which established the Basser Center in 2012. The Center was created in memory of Mindy Gray's sister Faith Basser, who died of BRCA-related ovarian cancer at age 44.

"We are enormously grateful to the Grays for extending their generosity to support these research programs," said Domchek. "Their gift allows us to work more closely in collaboration with colleagues at academic institutions around the world. In a time when medicine is making such great strides but federal funding for biomedical research is waning, it's vital that we find new channels to continue supporting progress across the field of BRCA research."

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Penn Medicine's Basser Research Center for BRCA announces $6.9 million in new grants

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Create a House: Perfect Genetics – Video

October 14th, 2014

Create a House: Perfect Genetics
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Create a House: Perfect Genetics - Video

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For One Family, Zebrafish Help Provide Genetic Answers

October 14th, 2014

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Newswise Research in zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles, scientists report in an article published October 14 in the journal GENETICS.

The findings demonstrate the growing importance of zebrafish as laboratory models of rare diseases. Such models allow geneticists to make sense of the deluge of candidate disease genes being uncovered by advances in sequencing technologies. Although rare diseases are uncommon individually, together they affect as many as 25 million people in the United States.

The project began when a young boy with a puzzling constellation of symptoms was referred to medical geneticist Susan Brooks of the Rutgers Robert Wood Johnson Medical School. The child was suffering from delayed development, recurrent fevers, seizures, and slow growth. He also had poor head growth, resulting in microcephaly, or head size much smaller than healthy children his age. Two of the boys uncles shared many of these symptoms, suggesting that the mysterious disorder might be caused by a recessive mutation on the X-chromosome. Such "X-linked" mutations can be carried by both males and females, but with few exceptions, cause symptoms only in males.

Using this clue, the scientists tracked down a mutation carried only by the affected males and their mothers, within a gene called RPL10 located on the X-chromosome. This gene encodes part of the ribosome, which is a central piece of the molecular machinery that translates the genetic code into proteins.

But although they now had a candidate mutation, they couldnt tell if it had actually caused the disorder or if it was merely one of the many harmless DNA variants that litter the genomes of every family.

For more common genetic diseases, scientists can confirm that a candidate mutation causes a disease by identifying other families with the same mutation and same symptoms. But this variant was unique. Although a few mutations in other parts of the RPL10 gene had been found previously, those who carried them did not show clinical signs similar to this familys disorder. So, the team turned to the next best option for studying very rare variants they tested the effect of the mutation in a model organism.

Brooks enlisted the help of a Duke University team led by Erica Davis from the Center for Human Disease Modeling, with most of the zebrafish experimental work performed by then-undergraduate Alissa Wall. They showed that dampening expression of the zebrafish rpl10 gene caused the animals to develop significantly smaller heads in other words, they were displaying the fish version of microcephaly.

When they replaced the suppressed zebrafish gene with the human version, the fish heads developed to a normal size. But when the researchers tried the same trick using the mutated variant of the human RPL10 gene, it didnt work. In other words, the change in DNA sequence prevented RPL10 from functioning properly. These findings strongly suggested that the mutation is also responsible for microcephaly in the males from the original family.

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For One Family, Zebrafish Help Provide Genetic Answers

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NewLink Genetics (NLNK) Shows Strength: Stock Up 23.7% – Tale of the Tape

October 14th, 2014

NewLink Genetics Corporation ( NLNK ) was a big mover last session with its shares rising nearly 24% on the day. The move came on solid volume too with far more shares changing hands than in a normal session. This reverses the recent downtrend for the company as the stock has lost nearly 13% in the past one-month time frame.

This biopharmaceutical company has seen no estimate revision in the last 30 days. The Zacks Consensus Estimate hasn't been in trend either. Yesterday's price action is encouraging though, so make sure to keep a close watch on this firm in the near future.

NewLink Genetics has a Zacks Rank #3 (Hold) and its Earnings ESP is 0.00%.

Some better-ranked biomedical stocks worth considering are Genomic Health Inc. ( GHDX ), Ligand Pharmaceuticals Inc. ( LGND ) and Halozyme Therapeutics, Inc. ( HALO ). All three stocks sport a Zacks Rank #1 (Strong Buy).

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NewLink Genetics (NLNK) Shows Strength: Stock Up 23.7% - Tale of the Tape

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New Gene Therapy for "Bubble Boy" Disease Appears to be Safe, Effective

October 14th, 2014

PHILADELPHIA A new form ofgene therapyfor boys with X-linked severe combined immunodeficiency syndrome (SCID-X1), a life-threatening condition also known as bubble boy disease, appears to be both effective and safe, according to an international clinical trial with sites inBoston, Cincinnati, Los Angeles, London, and Paris.

Early data published in theNew England Journal of Medicinesuggests that the therapy may avoid the late-developing leukemiaseen in a quarter of SCID-X1 patients in previous gene-therapy trials in Europe that took place more than a decade ago. Left untreated, boys with SCID-X1 usually die of infection before their first birthday.

The lab of coauthorFrederic Bushman, PhD, professor of Microbiology, from thePerelman School of Medicine at the University of Pennsylvania, carried out the deep DNA sequencing on patient specimens to track and verify distributions of integration sites of the vector.The vector used in the new trial was engineered to remove molecular signals implicated in cancers in the first trial.

Eight of nine boys recruited to date to the present trial are alive between 12 and 38 months after treatment, with no SCID-X1-associated infections. The gene therapy alone generated functioning immune systems in seven of eight boys. Genetic studies showed that the new viral vector did not lead to vector insertions near known cancer-causing genes, raising cautious hopes about the vector's long-term safety.

We showed that fewer cells accumulated with integration sites near cancer genes in the second trial, suggesting that the adverse properties had indeed been engineered out, explains Bushman So far there are no clinical adverse events in the present trial -- the integration site data has suggested improved safety.

The modified vector created for the current trial is a self-inactivating gammaretrovirus, designed to deliver its payload effectively while minimizing the chance of inadvertently turning on oncogenes that could lead to leukemia.

The core question of the trial was whether the new self-inactivating viral vector could safely and successfully shuttle a gene called theIL-2 receptor gamma(IL2RG) subunit into the patients' hematopoietic stem cells. In boys born with SCID-X1, mutations render theIL2RGgene inactive, robbing the children of the ability to produce a functional immune system.

For more information, see theDana-Farber/Boston Children's Cancer and Blood Disorders Centersnews release.

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Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nation's first medical school) and theUniversity of Pennsylvania Health System, which together form a $4.3 billion enterprise.

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New Gene Therapy for "Bubble Boy" Disease Appears to be Safe, Effective

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Penn Medicine researcher receives New Innovator Award from National Institutes of Health

October 14th, 2014

PUBLIC RELEASE DATE:

13-Oct-2014

Contact: Karen Kreeger karen.kreeger@uphs.upenn.edu 215-349-5658 University of Pennsylvania School of Medicine @PennMedNews

PHILADELPHIA Roberto Bonasio, PhD, an assistant professor of Cell and Developmental Biology, Perelman School of Medicine at the University of Pennsylvania, and a core member of the Penn Epigenetics Program is one of the recipients of a 2014 New Innovator Award from the National Institutes of Health (NIH).

The NIH Director's New Innovator Award, totaling $1.5 million over five years for each of the 50 recipients this year, supports highly innovative research and creative, new investigators who exhibit strong potential to make great advances on a critical biomedical or behavioral research problem. The initiative, established in 2007, supports investigators who are within 10 years of their terminal degree or clinical residency, who have not yet received a research project grant (R01), or equivalent NIH grant, to conduct unusually innovative research.

Bonasio studies the molecular mechanisms of epigenetic memory, which are key to a number of biological processes, including embryonic development, cancer, stem cell pluripotency, and brain function. In particular, he will be looking at gene expression controlled by epigenetic pathways that alter the chemical structure of chromosomes and allow for multiple cell identities to arise from a single genome. These pathways are also critical in the brain and their improper functioning can cause mental retardation, cognitive decline, and psychiatric disorders.

Bonasio has chosen ants as a model system. With colleagues Shelley Berger, PhD, who directs the Penn Epigenetics program; postdoctoral mentor Danny Reinberg, PhD, New York University; and Jrgen Liebig, PhD, Arizona State University, Bonasio has established the ant Harpegnathos saltator as a laboratory model to study epigenetics, the process by which a single genome gives rise to a variety of physiological outcomes.

This phenomenon is particularly evident in ants, as they live in caste-based societies in which most of the individuals are sterile females, limited to highly specialized roles such as workers and soldiers. Only one queen and the relatively small contingent of male ants are fertile and able to reproduce. Yet despite such extreme differences in behavior and physical form, all females within the colony appear to be genetically identical.

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Also see the University of Pennsylvania release.

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Penn Medicine researcher receives New Innovator Award from National Institutes of Health

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Stem Cell Therapy For ALS Gets FDA’s Fast Track Designation