photo courtesy of dr. Radu Kramer

Gabi Popa, Jackie Conti, Santa Crisall, Dr. Radu Kramer, Jossy Breton and Yazmin Rodriguez of Alternative and Integrative Medicine Center in Paramus.

Providing quality care to patients

"The integrative medical approach is probably the most comprehensive way to diagnose and treat a patient," said Dr. Radu Kramer of the Alternative and Integrative Medicine Center in Paramus.

Alternative and integrative medicine relies on performing a thorough evaluation of the patient.

"The medical history, physical examination and the emotional assessment is corroborated with the genetic predispositions and environmental influences," Kramer said. "The diagnostic workup includes up-to-date conventional medicine modalities."

Kramer received his training in nephrology at Mount Sinai Medical Center in New York.

"I spent five years at Keller Army Hospital in West Point, N.Y., prior to starting my private practice," he said. "During that time, I also worked with Dr. Revici, my great uncle and a true pioneer of alternative thinking in medicine, at his Institute of Applied Biology in Manhattan."

A strong belief in alternative and integrative medicine led Kramer to open his own practice.

"I was convinced then, just as I am today, that there's a growing need for a comprehensive approach for patients in general and in particular for those suffering from more complex diseases," he said.

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Alternative and Integrative Medicine Center

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The research involved creating human cells in a laboratory dish instead of relying on tests on mice. Photograph: corfield / Alamy/Alamy

Cells used to study dementia in a dish have led scientists to a potential new treatment strategy for an inherited form of the brain disease.

Defective stem cells grown in the lab revealed a signalling pathway linked to frontotemporal dementia (FTD), which accounts for about half of dementia cases before the age of 60.

Treatment with a drug that suppressed the pathway, known as Wnt, restored the ability of neurons affected by the disease to develop normally.

Prof Philip Van Damme, from the Leuven Research Institute for Neuroscience and Disease in Belgium, said: Our findings suggest that signalling events required for neurodevelopment may also play major roles in neurodegeneration.

Targeting such pathways, as for instance the Wnt pathway presented in this study, may result in the creation of novel therapeutic approaches for frontotemporal dementia.

Mutations in the progranulin (GRN) gene are commonly associated with FTD, which results in damage to the frontal and temporal lobes of the brain.

The fact that GRN mutations produced in mice do not display all the features of the human disorder has limited progress towards effective treatments for FTD.

Instead of relying on animal tests, the new research involved creating human cells in a laboratory dish.

The scientists reprogrammed skin cells from three dementia patients into induced pluripotent stem cells (iPSCs), immature cells that mimic stem cells taken from early-stage embryos.

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Stem cell study leads to potential new dementia treatment

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IMAGE:Induced pluripotent stem cells (iPSCs) derived from patients with frontotemporal dementia were genetically corrected and converted to cortical neurons. The green staining indicates the cortical marker CTIP2, the red stain... view more

Credit: Susanna Raitano/Stem Cell Reports 2014

Belgian researchers have identified a new strategy for treating an inherited form of dementia after attempting to turn stem cells derived from patients into the neurons most affected by the disease. In patient-derived stem cells carrying a mutation predisposing them to frontotemporal dementia, which accounts for about half of dementia cases before the age of 60, the scientists found a targetable defect that prevents normal neurodevelopment. These stem cells partially return to normal when the defect is corrected.

The study appears in the December 31st issue of Stem Cell Reports, the official journal of the International Society of Stem Cell Research published by Cell Press.

"Use of induced pluripotent stem cell (iPSC) technology"--which involves taking skin cells from patients and reprogramming them into embryonic-like stem cells capable of turning into other specific cell types relevant for studying a particular disease--"makes it possible to model dementias that affect people later in life," says senior study author Catherine Verfaillie of KU Leuven.

Frontotemporal disorders are the result of damage to neurons in parts of the brain called the frontal and temporal lobes, gradually leading to behavioral symptoms or language and emotional disorders. Mutations in a gene called progranulin (GRN) are commonly associated with frontotemporal dementia, but GRN mutations in mice do not mimic all the features of the human disorder, which has limited progress in the development of effective treatments.

"iPSC models can now be used to better understand dementia, and in particular frontotemporal dementia, and might lead to the development of drugs that can curtail or slow down the degeneration of cortical neurons," Verfaillie says.

Verfaillie and Philip Van Damme of the Leuven Research Institute for Neuroscience and Disease explore this approach in the Stem Cell Reports study by creating iPSCs from three patients carrying a GRN mutation. These immature cells were impaired at turning into mature, specialized cells called cortical neurons--the most affected cell type in frontotemporal dementia.

One of the top defective pathways in the iPSCs was the Wnt signaling pathway, which plays an important role in neuronal development. However, genetic correction or treatment with a compound that inhibits the Wnt signaling pathway restored the ability of the iPSCs to turn into cortical neurons. Taken together, the findings demonstrate that the GRN mutation causes the defect in cortical neuron formation by altering the Wnt signaling pathway.

"Our findings suggest that signaling events required for neurodevelopment may also play major roles in neurodegeneration," Van Damme says. "Targeting such pathways, as for instance the Wnt pathway presented in this study, may result in the creation of novel therapeutic approaches for frontotemporal dementia."

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Patient stem cells used to make dementia-in-a-dish; help identify new treatment strategy

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NEW YORK (TheStreet) -- Shares of stem cell therapy developerNeuralstem (CUR) rose 4.62% to $2.72 on higher-than-average volume in afternoon trading Wednesday in sympathy with peer companyBrainstorm Cell Therapeutics (BCLI) .

Brainstorm intends to release the final results from its Phase 2a trial of its stem cell therapy NurOwn on Monday. The company describes NurOwn as an "autologous, adult stem cell therapy technology" designed to treat ALS, also known as Lou Gehrig's Disease.

The company will host a conference call on Monday to discuss the results.

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One Reason Neuralstem (CUR) Stock is Rising Today

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NEW YORK (TheStreet) -- Shares ofBrainstorm Cell Therapeutics (BCLI) soared 20.88% to $4.69 on higher-than-average volume in morning trading Wednesday ahead of the biotech company's data release on Monday.

Brainstorm intends to release the final results from its Phase 2a trial of its stem cell therapy NurOwn on Monday. The company describes NurOwn as an "autologous, adult stem cell therapy technology" designed to treat ALS, also known as Lou Gehrig's Disease.

The company will host a conference call on Monday to discuss the results.

Exclusive Report: Jim Cramers Best Stocks for 2015

Jim Cramer and Stephanie Link reveal their investment tactics while giving advanced notice before every trade.

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Brainstorm Cell Therapeutics (BCLI) Stock Rises Ahead of ALS Treatment Trial Data Release

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A Finnish-North American collaboration of scientists at Michigan State University and the University of Helsinki has found a MERTK gene defect responsible for a recently identified form of progressive retinal atrophy in Swedish vallhund dogs. This discovery opens the door to the development of therapies for diseases that cause blindness both in dogs and humans. The research findings were published in the paper A Novel Canine Retinopathy Associated with MERTK in the journal PLoS ONE in December.

Inherited retinal diseases are among the leading causes of incurable blindness in humans as well as in dogs, where most of these conditions are classified as progressive retinal atrophy (PRA). Because of the similarities in ocular anatomy, canine models contribute significantly to the understanding of retinal disease mechanisms and the development of new therapies for human patients. The gene identified as a cause of PRA in the Swedish vallhund is associated with a form of human retinitis pigmentosa (RP), one of the most common incurable blindness worldwide.

This is the third paper published in PLoS ONE by the collaborating research teams of Dr. Andrs Komromy at Michigan State University, and Professor Hannes Lohi and Dr. Saija Ahonen at the University of Helsinki. The teams' three papers, each on Nordic dogs (Swedish Vallhund and Norwegian Elkhound) and each addressing blinding ocular diseases affecting both dogs and people, identified genes causing retinal disease and glaucoma, which may lead to gene therapies for dogs and humans.

"The work to characterize these diseases in two Nordic dog breeds drew from well-established international collaborations between clinicians, geneticists, and dog breeders. This type of longstanding, multi-disciplinary collaboration certainly strengthens a team's response to the challenges of unraveling complex problems and creating innovative solutions," explains professor Lohi. All three papers were also part of Dr Ahonen's PhD thesis published recently (https://helda.helsinki.fi/handle/10138/136144).

Ten years, seven countries, and three continents

The identification of MERTK gene as a cause of Swedish Vallhund PRA is the result of a decade-long project that first described the newly emerged disease in September 2014 in A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs, PLoS ONE 9(9): e106610.

Beginning in the late 1990s, Swedish and Finnish eye panelists recognized the emergence of a new retinal disease in Swedish vallhund dogs. The retinal abnormalities were different from any known forms of canine inherited retinopathy.

In 2004, Komromy, then at the University of Pennsylvania, received a telephone call from a breeder in Midwest about a new retinal disease. "I drove from Philadelphia to Michigan to examine the affected dogs, and began visiting dog shows and other venues around North America and Scandinavia to examine other Swedish vallhund dogs. It is wonderful to see that these trips helped us to later get this far to understand these conditions," tells Komaromy. The larger research project, which has led now to the identification of a responsible gene, became possible when Komromy learned of the work of professor Lohi and Dr. Ahonen in the Department of Veterinary Biosciences and Research Programs Unit at the University of Helsinki, Finland, and the Folkhlsan Institute of Genetics.

Komromy, the researchers from University of Helsinki, and collaborators from numerous institutions, took an investigative journey across three continents, examined 324 dogs in seven countries, described a new disease, and managed to identify a gene that causes the disease.

Future studies will include the search for the regulatory mutation and study of overexpression-related disease mechanisms with a possibility for a therapeutic option with MERTK inhibitors. Meanwhile, a genetic marker test can be developed to revise breeding programs to reduce the frequency of this disease in the Swedish vallhund breed.

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Discovery of mutated gene in dogs could help treat blindness

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People born after 1942 are more likely to be affected by a gene that strongly increases the chance of obesity, a new study suggests.

In previous studies, variations in the FTO gene have been linked to a tendency toward obesity. The new study suggests the gene might be activated by environmental and lifestyle factors including high-calorie, fatty foods as well as bigger portion sizes since World War II making it more likely that people will be larger and weigh more than their parents and grandparents.

For the current work, researchers at Harvard Medical School and Massachusetts General Hospital in Boston looked at the suspected link between genetic and environmental factors involved in obesity risk by studying participants in the so-called Framingham Heart Study. The ongoing heart study has followed the health of more than 10,000 people from the Massachusetts town of Framingham for several decades.

The research looked at the body mass index (BMI) a measure of body fat based on height and weight of parents, their children and grandchildren.

About two-thirds of the more than 5,000 children born to the study's original participants have had their DNA sequenced, which allowed investigators to identify which families carried the genetic variant making them prone toward weight gain.

Comparing each person's BMI to the year they were born, researchers found no connection between the FTO gene and people born before 1942. However, there was a strong link between the gene and obesity in those born after that year.

Experts say research is beginning to show that having a particular obesity gene alone does not automatically mean someone will become overweight. Rather, the combination of the gene with environmental factors such as diet and a sedentary lifestyle appears at fault.

The findings were reported December 29 in the journal Proceedings of the National Academy of Sciences.

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Birth Year Could Affect Obesity Risk, Study Suggests

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Stanford University studies show that those who follow a DNA-based diet lose 2.5 times more weight than those who do not-- BalanceDiet offers a proprietary genetic test for weight management based on clients DNA, then provides a personal lifestyle plan designed using each individuals test results.

Melisa Jakubiec, a BalanceDiet Club Director, tells FOX News, Tampa Bay: By looking at four genes, we can determine if they [BalanceDiet clients] are sensitive to fat or carbohydrates, or a little of both. Then, the diet can be further personalized to facilitate their weight loss. Similar genetic testing programs can be thousands of dollars, what I love about the BalanceDiet program is its simplicity and how affordable it is. For under $200 a client can have insight into their body and a lifetime of wisdom on food and eating strategies tailored to them

Christopher Gardner, Associate Professor of Medicine at Stanford University published a study in April 2013 that looked at 141 women who were following four diets that focus on varying portions of carbohydrates and fats according to national standards. Each woman provided a DNA test sample. After one year, women on average who followed a diet that matched their specific genetic makeup lost 2.5x more weight than those women who did not follow the diet according to their genetic makeup. To put these results in perspective, they lost approximately 13 pounds versus 4 pounds, respectively.

Based on this Stanford University Study as well as multiple other studies, the BalanceDiet genetic weight loss test is designed to determine a persons ideal dietary food identity with a simple cotton swab test.

Rena Anne Apple, client at BalanceDiet, who after losing 70lbs, still attends the center to maintain her weight: I started gaining weight in middle school and I just kept gaining weight up until I went to college, and even after college I topped out at 275lbs...Now that Im on maintenance, I dont have to eliminate all carbs from my diet. I can say Okay, Ill have this potato, but Im going to eliminate bread...I look like a completely different person from when I was [275lbs]... Im a totally different person, and I love it! One of the things that has helped me stick to the plan is how easy it is to follow.

BalanceDiet provides private coaching from highly trained lifestyle experts who customize personal nutrition and wellness plans as a followup to support a clients genetic test results.

Existing and new clients may register for the weight management genetic test at any BalanceDiet Centers nationwide. To learn more, visit: http://www.gobalancediet.com/about/genetic-testing/

About BalanceDiet:

For over 20 years, BalanceDiet has been helping clients meet and exceed their weight loss goals with its proven diet programs, award-winning product lines, and innovative client options such as their proprietary genetic test for weight loss. Known for personalized consulting and highly effective weight loss plans, the company reflects a balanced approach to food, eating, and maintaining a healthy lifestyle. BalanceDiet is a fast-growing wellness brand with more than 30 locations throughout the United States, in addition to the BalanceDiet At Home service offered directly to consumers. The company is expanding internationally and expects to have 40 ground-based operations by year-end, with additional franchise opportunities available. For more information on BalanceDiet, please visit http://www.goBalanceDiet.com.

1. Miles, Kathleen. Fat Genes Determine Obesity, UCLA Study Says, In Addition To Diet And Exercise. Huffingtonpost.com. N.p., 10 Jan. 2013. Web. 10 Jan. 2014. huffingtonpost.com/2013/01/10/fat-genes-obesity-ucla-study-diet-exercise_n_2450108.html.

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Time to Fit Into Your Genes: Scientifically Proven Genetic Tests for Weight Loss

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Snake Genetics Made Simple : SnakeBytesTV : AnimalBytesTV
Snake genetics made simple.. I #39;ll teach you reptile genetics in the easiest way to understand! You #39;ll be a reptile expert after watching this show! Enjoy! SnakeBytesTV is produced by BHB Reptiles,...

By: AnimalBytesTV

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Snake Genetics Made Simple : SnakeBytesTV : AnimalBytesTV - Video

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CSU Receives Record $42.5 Million Gift for Regenerative Medicine from John and Leslie Malone
Philanthropists John and Leslie Malone have committed a record $42.5 million to Colorado State University to develop regenerative medical therapies for anima...

By: Colorado State University

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CSU Receives Record $42.5 Million Gift for Regenerative Medicine from John and Leslie Malone - Video

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The year in which you're born might affect the activity of a gene that could raise your odds for obesity, a new study finds.

Members of families who share an obesity-prone mutation of the FTO gene are more likely to carry extra weight if they were born after 1942, the researchers found.

"You could have a family where your father might be born in 1920 and you were born after 1942, and you look exactly like him, and only on the basis of the food and environment around you, you will have a higher BMI than your father," said lead author Dr. James Niels Rosenquist, an instructor at Harvard Medical School and psychiatrist with Massachusetts General Hospital in Boston. BMI (body mass index) is a standard measurement of weight and height.

According to the researchers, prior studies have linked variations in the FTO gene to a propensity toward overweight and obesity. For example, federal researchers earlier this year reported that people with mutated FTO genes are more likely to eat high-calorie or fatty foods as they age, compared to people without the mutations.

While the study couldn't prove cause-and-effect, the findings suggest that changes in American culture may be boosting the obesity threat tied to the FTO gene mutation.

To take a multi-generational look at obesity risk, the researchers relied on the Framingham Heart Study, a decades-old study of more than 10,000 parents, children and even grandchildren hailing from the town of Framingham, Mass.

About two-thirds of the more than 5,100 children born to the original Framingham participants have had their DNA sequenced. This allowed the research team to determine which families carried the obesity-prone versions of the FTO gene.

The researchers compared people's genes to changes in BMI measurements taken over time, and then compared that to the years participants were born.

Rosenquist's team found no link between the FTO gene and obesity for people born prior to 1942. However, they found a very strong link between the gene and obesity in those born after 1942 -- a link twice as strong as reported in previous studies.

Dr. Mitchell Roslin is chief of obesity surgery at Lenox Hill Hospital in New York City. He said that science is beginning to show that genes alone may not determine a person's fate. Instead, genes often appear to respond to outside influences, so there's a combination of environment and genetics at play.

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How a "fat gene" may influence your weight

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Published December 30, 2014

Scientists have begun clinical trials for the treatment of a gene mutation linked to multiple cancers, reveals a study published Tuesday in the journal Cancer Discovery.

In 1982, researchers discovered that the gene TRK caused a small percentage of colon cancers. In 2013 and 2014, studies linked the gene to at least 11 tumor types, including lung, breast and skin cancer. Modern technology has finally enabled researchers to test potential treatments for these gene abnormalities.

Now technology lets us find the gene in actual patient samples, and drugs are available to target these gene rearrangements making it possible to treat TRK cancers in clinical trials in ways we only dreamed of 32 years ago," Robert C. Doebele, investigator at the CU Cancer Center and associate professor of medical oncology at the CU School of Medicine, said in a news release.

In the womb, the TRK family of genes and the proteins they encode are crucial for the development and survival of neurons. After birth, they are programmed to go dormant, but when they improperly fuse with other nearby genes, the TRK genes can resume signaling cells to grow and become immortal. In adult tissue, this process can cause cancer.

"What we're finding is that while TRK fusions may not be the major cause in any single, major cancer, it's the cause of small percentages of many cancer types," Doebele said.

Doebeles study cites previous research that suggests TRK fusions are responsible for 3.3 percent of lung cancers, 1.5 percent of colorectal cancers, 12.3 percent of thyroid cancers, about 2 percent of glioblastomas, and 7.1 percent of pediatric gliomas (brain tumors). These numbers add up when they are considered together, Doebele said.

While treatments for TRK fusions were nonexistent a decade ago, today, a class of drugs has been developed to target this type of genetic abnormality. Tryrosine kinase inhibitors in particular can switch off these genes, and the Food and Drug Administration (FDA) has approved a drug that targets two different types of fusion genes in lung cancer.

"A lot of doctors in academia or community hospitals are ordering next-generation sequencing panels for their patients, Doebele said. If it turns out that patients' tumors have TRK alterations, I want their doctors to know that there are treatment options available via clinical trials.

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Scientists begin testing drugs for gene mutation linked to multiple cancers

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SENS Research Foundation Summer Scholars Program
The SENS Research Foundation Summer Scholars Program offers undergraduate students the opportunity to conduct biomedical research to combat diseases of aging, such as cancer and Alzheimer #39;s.

By: SENS Foundation

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SENS Research Foundation Summer Scholars Program - Video

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Researchers have narrowed down the list of genes implicated in autism spectrum disorder, and they appear to point toward a part of the brain that has largely been overlooked.

Most research into the genetic roots of autism, a highly heritable disorder that affects about 1 in 68 children, starts with a kind of inventory of genes. Then, it narrows down this genome-wide survey to prime suspects that appear to be different among those with one or several of the symptoms of autism.

That gene-by-gene approach, however, has unearthed too many suspects, each with somewhat vague relationships to a small sliver of the autism spectrum. That situation has sparked some to abandon the gene-by-gene approach in favor of environmental factors that may alter gene behavior.

Whats special about autism is that it doesnt seem like its a one-gene thing, said Stanford UniversitySchool of Medicinegeneticist Michael Snyder, lead investigator of the study published online Tuesday in the journal Molecular Systems Biology.

Maybe this is a tough way to look at it, Snyder said of the gene-by-gene approach. Maybe a better way to look at it is to see what the normal biological landscape looks like, and see how people who are mutated for autism map onto that.

What followed was a complex computational task that corralled proteins into scores of modules tightly bound by their inter-related functions. Then Snyders team overlaid the map of gene variants implicated in autism.

At first glance, proteins encoded by these 383 suspect genes were scattered among many of these functional modules. But a few of the modules screamed out with autism connections, both from existing data and a genome screening the researchers conducted, Snyder said.

One module involved molecular activity that goes on all over the brain, particularly involving synapses, the tiny spaces where electrochemical signals cross for one neuron to another. This helps explain why so much autism research points toward problems with synapses.

But there was another module just as rich in autism implications, and this one implicated the corpus callosum. That thick band of fibers connects the brains two hemispheres, and its generally smaller among those with autism a disease marked by many anomalies in connectivity.

The corpus callosum is chock full of a different kind of brain cell, oligodendrocytes, which provide a sheath of insulation around the transmission lines of neurons, known as their axons. That greatly aids the propagation of electrochemical signals along the neuron. Defects in this myelin sheathing have been associated with developmentaldisorders.

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Study narrows down genetic suspects in autism

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See Inside

As comprehensive genetic tests become more widespread, patients and experts mull how to deal with unexpected findings

Skip Sterling

Last spring Laura Murphy, then 28 years old, went to a doctor to find out if a harmless flap of skin she had always had on the back of her neck was caused by a genetic mutation. Once upon a time, maybe five years ago, physicians would have focused on just that one question. But today doctors tend to run tests that pick up mutations underlying a range of hereditary conditions. Murphy learned not only that a genetic defect was indeed responsible for the flap but also that she had another inherited genetic mutation.

This one predisposed her to long QT syndrome, a condition that dramatically increases the risk of sudden cardiac death. In people with the syndrome, anything that startles themsay, a scary movie or an alarm clock waking them from a deep slumbermight kill by causing the heart to beat completely erratically.

Doctors call this second, unexpected result an incidental finding because it emerged during a test primarily meant to look for something else. The finding was not accidental, because the laboratory was scouring certain genes for abnormalities, but it was unexpected.

Murphy, whose name was changed for this story, will most likely have plenty of company very soon. The growing use of comprehensive genetic tests in clinics and hospitals practically guarantees an increasing number of incidental discoveries in coming years. Meanwhile the technical ability to find these mutations has rapidly outpaced scientists understanding of how doctors and patients should respond to the surprise results.

Unknown Unknowns Incidental findings from various medical tests have long bedeviled physicians and their patients. They appear in about a third of all CT scans, for example. A scan of the heart might reveal odd shadows in nearby lung tissue. Further investigation of the unexpected resultseither through exploratory surgery or yet more testscarries its own risks, not to mention triggering intense anxiety in the patient. Follow-up exams many times reveal that the shadow reflects nothing at alljust normal variation with no health consequences.

What makes incidental findings from genetic tests different, however, is their even greater level of uncertainty. Geneticists still do not know enough about how most mutations in the human genome affect the body to reliably recommend any treatments or other actions based simply on their existence. Furthermore, even if the potential effects are known, the mutation may require some input from the environment before it will cause its bad effects. Thus, the presence of the gene does not necessarily mean that it will do damage. Genetics is not destiny. In Murphy's case, her mutation means that she has a roughly 50 to 80 percent chance of developing long QT syndrome, and the presence of the mutation alone is not a sure indicator she will be afflicted, says her physician, Jim Evans, a genetics and medicine professor at the University of North Carolina School of Medicine. To be safe, he has advised her to meet with a cardiac specialist to talk about next steps, including possibly starting beta-blocker drugs to regularize her heart rate.

The incidence of hard-to-interpret results is expected to rise because the cost of surveying large swaths of the genome has dropped so lowto around $1,000. It is typically less expensive to get preselected information about the 20,000 or so genes that make up a person's exomethe section of the genome that provides instructions for making proteinsthan to perform a more precision-oriented test that targets a single gene. As a consequence, scientists and policy makers are now scrambling to set up guidelines for how much information from such testing to share with patients and for how best to help them deal with the inevitable incidental findings.

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What Rare Disorder Is Hiding in Your DNA?

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Protein UbcH7 regulates action of 53BP1 gene repair route where cancer cells are met with fatal inhospitality

Case Western Reserve researchers have identified a two-pronged therapeutic approach that shows great potential for weakening and then defeating cancer cells. The team's complex mix of genetic and biochemical experiments unearthed a way to increase the presence of a tumor-suppressing protein which, in turn, gives it the strength to direct cancer cells toward a path that leads to their destruction.

If the laboratory findings are supported by tests in animal models, the breakthrough could hold the promise of increasing the effectiveness of radiation and chemotherapy in shrinking or even eliminating tumors. The key is to build up a "good" protein - p53-binding protein 1 (53BP1) -- so that it weakens the cancer cells, leaving them more susceptible to existing cancer-fighting measures.

The breakthrough detailed appeared in the Nov. 24 online edition of the journal PNAS (Proceedings of the National Academy of Sciences).

"Our discovery one day could lead to a gene therapy where extra amounts of 53BP1 will be generated to make cancer cells more vulnerable to cancer treatment," said senior author Youwei Zhang, PhD, assistant professor of pharmacology, Case Western Reserve University School of Medicine, and member of the Case Comprehensive Cancer Center. "Alternatively, we could design molecules to increase levels of 53BP1 in cancers with the same cancer-killing end result."

The cornerstone of the research involves DNA repair - more specifically, double-stand DNA repair. DNA damage is the consequence of an irregular change in the chemical structure of DNA, which in turn damages and even kills cells. The most lethal irregularity to DNA is the DNA double-strand break in the chromosome. DNA double-strand breaks are caused by everything from reactive oxygen components occurring with everyday bodily metabolism to more damaging assaults such as radiation or chemical agents.

The body operates two repair shops, or pathways, to fix these double strand breaks. One provides rapid, but incomplete repair - namely, gluing the DNA strand ends back together. The problem with the glue method is that it leaves the DNA strands unable to transmit enough information for the cell to function properly - leading to a high cell fatality rate.

The second shop, or pathway, uses information from intact, undamaged DNA to instruct damaged cells on how to mend broken double strands. During his study, Zhang and fellow investigators discovered a previously unidentified function of a known gene, UbcH7, in regulating DNA double-strand break repair. Specifically, they found that depleting UbcH7 led to a dramatic increase in the level of the 53BP1 protein.

"What we propose is increasing the level of 53BP1 to force cancer cells into the error-prone pathway where they will die," Zhang said. "The idea is to suppress deliberately the second accurate repair pathway where cancer cells would prefer to go. It is a strategy that would lead to enhanced effectiveness of cancer therapy drugs."

The next research step for Zhang and his team will be to test their theory in animal models with cancer. Investigators would study the effects of introducing the protein 53BP1 in lab mice with cancer and then applying chemotherapy and radiotherapy as treatment.

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Cancer treatment potential discovered in gene repair mechanism

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Preliminary Results from Gene Therapy in Patients with Beta Thalassemia
At the American Society of Hematology Annual Meeting, preliminary data using bluebird bio #39;s gene therapy to treat beta thalassemia and sickle cell anemia was...

By: Rare Disease Report

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Preliminary Results from Gene Therapy in Patients with Beta Thalassemia - Video

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Washington, DC - infoZine - Three-year outcomes from an ongoing clinical trial suggest that high-dose immunosuppressive therapy followed by transplantation of a person's own blood-forming stem cells may induce sustained remission in some people with relapsing-remitting multiple sclerosis (RRMS). RRMS is the most common form of MS, a progressive autoimmune disease in which the immune system attacks the brain and spinal cord.

Three years after the treatment, called high-dose immunosuppressive therapy and autologous hematopoietic cell transplant or HDIT/HCT, nearly 80 percent of trial participants had survived without experiencing an increase in disability, a relapse of MS symptoms or new brain lesions. Investigators observed few serious early complications or unexpected side effects, although many participants experienced expected side effects of high-dose immunosuppression, including infections and gastrointestinal problems.

Scientists estimate that MS affects more than 2.3 million people worldwide. Symptoms can vary widely and may include disturbances in speech, vision and movement. Most people with MS are diagnosed with RRMS, which is characterized by periods of relapse or flare up of symptoms followed by periods of recovery or remission. Over years, the disease can worsen and shift to a more progressive form.

In the study, researchers tested the effectiveness of HDIT/HCT in 25 volunteers with RRMS who had relapsed and experienced worsened neurological disability while taking standard medications. Doctors collected blood-forming stem cells from participants and then gave them high-dose chemotherapy to destroy their immune systems. The doctors returned the stem cells to the participants to rebuild and reset their immune systems.

"Notably, participants did not receive any MS drugs after transplant, yet most remained in remission after three years," said Daniel Rotrosen, M.D., director of NIAID's Division of Allergy, Immunology and Transplantation. "In contrast, other studies have shown that the best alternative MS treatments induce much shorter remissions and require long-term use of immunosuppressive drugs that can cause serious side effects."

The study researchers plan to follow participants for a total of five years, recording all side effects associated with the treatment. Final results from this and similar studies promise to help inform the design of larger trials to further evaluate HDIT/HCT in people with MS.

The trial is funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and conducted by the NIAID-funded Immune Tolerance Network (ITN).

The three-year findings are published in the Dec. 29, 2014, online issue of JAMA Neurology.

Related Link Immune Tolerance Network (ITN)

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Stopping Multiple Sclerosis with Stem Cell Transplants

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Abstract: Adipose tissue is an abundant source of mesenchymal stem cells, which have shown promise in the field of regenerative medicine. Furthermore, these cells can be readily harvested in large numbers with low donor-site morbidity. During the past decade, numerous studies have provided preclinical data on the safety and efficacy of adipose-derived stem cells, supporting the use of these cells in future clinical applications. Various clinical trials have shown the regenerative capability of adipose-derived stem cells in subspecialties of medical fields such as plastic surgery, orthopedic surgery, oral and maxillofacial surgery, and cardiac surgery. In addition, a great deal of knowledge concerning the harvesting, characterization, and culture of adipose-derived stem cells has been reported. This review will summarize data from in vitro studies, pre-clinical animal models, and recent clinical trials concerning the use of adipose-derived stem cells in regenerative medicine.

Introduction

In the field of regenerative medicine, basic research and preclinical studies have been conducted to overcome clinical shortcomings with the use of mesenchymal stem cells (MSCs). MSCs are present in adult tissues, including bone marrow and adipose tissue. For many years, bone marrow-derived stem cells (BSCs) were the primary source of stem cells for tissue engineering applications (Caplan, 1991; Pittenger et al., 1999; Caplan, 2007). However, recent studies have shown that subcutaneous adipose tissue provides a clear advantage over other stem cell sources due to the ease with which adipose tissue can be accessed as well as the ease of isolating stem cells from harvested tissue (Schffler et al., 2007). Initial enzymatic digestion of adipose tissue yields a mixture of stromal and vascular cells referred to as the stromal-vascular fraction (SVF) (Traktuev et al., 2008). A putative stem cell population within this SVF was first identified by Zuk et al. and named processed lipoaspirate (PLA) cells (Zuk et al., 2001; Zuk et al., 2002).

There is no consensus when it comes to the nomenclature used to describe progenitor cells from adipose tissue-derived stroma, which can sometimes lead to confusion. The term PLA refers to adipose-derived stromal cells and adipose-derived stem cells (ASCs) and describes cells obtained immediately after collagenase digestion. Accordingly, the term ASC will be used throughout this review.

ASCs exhibit stable growth and proliferation kinetics and can differentiate toward osteogenic, chondrogenic, adipogenic, myogenic, or neurogenic lineages in vitro (Zuk et al., 2002; Izadpanah et al., 2006; Romanov et al., 2005). Furthermore, a group has recently described the isolation and culture of ASCs with multipotent differentiation capacity at the single-cell level (Rodriguez, et al., 2005).

Using these attractive cell populations, recent studies have explored the safety and efficacy of implanted/administrated ASCs in various animal models. Furthermore, clinical trials using ASCs have been initiated in some medical subspecialties. This review summarizes the current preclinical data and ongoing clinical trials and their outcomes in a variety of medical fields.

Characterization and Localization

ASCs express the mesenchymal stem cell markers CD10, CD13, CD29, CD34, CD44, CD54, CD71, CD90, CD105, CD106, CD117, and STRO-1. They are negative for the hematopoietic lineage markers CD45, CD14, CD16, CD56, CD61, CD62E, CD104, and CD106 and for the endothelial cell (EC) markers CD31, CD144, and von Willebrand factor (Zuk et al., 2002; Musina et al., 2005; Romanov et al., 2005). Morphologically, they are fibroblast-like and preserve their shape after expansion in vitro (Zuk et al., 2002; Arrigoni et al., 2009; Zannettino et al., 2008).

The similarities between ASCs and BSCs may indicate that ASCs are derived from circulating BSCs, which infiltrate into the adipose compartment through vessel walls (Zuk et al., 2002; Zannettino et al., 2008; Brighton et al., 1992; Canfield et al., 2000; Bianco et al., 2001). On the other hand, according to a recent theory, these stem cells are actually pericytes (Traktuev et al., 2008; Chen et al., 2009; Crisan et al., 2008; Zannettino et al., 2008; Tintut et al., 2003; Abedin et al., 2004; Amos et al., 2008). Pericytes around microvessels express alpha-smooth muscle actin (-SMA) as well as certain MSC markers (CD44, CD73, CD90, CD105); however, they do not express endothelial or hematopoietic cell markers (Chen et al., 2009). Pericytes adhere, proliferate in culture, sustain their initial antigenic profile, and can differentiate into bone, cartilage and fat cells (Chen et al., 2009). Moreover, injected MSCs migrate to the blood vessels in vivo and become pericytes (Chen et al., 2009). Considering the above-mentioned data, it can be speculated that pericytes are the ancestors of MSCs, but this does not mean that all MSCs are descendants of pericytes (Chen et al., 2009) or that all pericytes are necessarily stem cells (Lin et al., 2008; Traktuev et al., 2008; da Silva et al., 2008; Abedin et al., 2004; Tintut et al., 2003; Zannettino et al., 2008; Amos et al., 2008).

Traktuev et al. (2008) defined a periendothelial pericyte-like subpopulation of ASCs. These cells were CD34+, CD31-, CD45-, and CD144- and expressed mesenchymal cell markers, smooth muscle antigens, and pericytic markers, including chondroitin sulfate proteoglycan (NG2), CD140a, and CD140b (PDGF receptor and , respectively) (Traktuev et al., 2008; Amos et al., 2008). However, Lin et al. (2008) could not co-localize CD34 and CD104b, and thus concluded that CD34+/CD31- cells of adipose vasculature are not pericytes.

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Adipose-derived Stem Cells: Current Findings and Future ...

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Dr Farshchian s Regenerative Medicine and Tibialis Dysfunction
educational and entertainment channel in the field of orthopedic surgery and sometimes other surgical or medical fields.

By: Adham Ortho Channel (AOC).

Excerpt from:
Dr Farshchian s Regenerative Medicine and Tibialis Dysfunction - Video

Recommendation and review posted by sam

Anyone can be a bone marrow donor, but when it comes to finding a match, race can be everything. There are certain genetic markers that doctors will look for when searching for a match -- and if a match is made, a transplant can then be scheduled. If someone is in need of a transplant, the process can be daunting, especially if there is only a small pool of donors that share a similar ethnicity.

There are many bone marrow donor services throughout the country, but the Asian American Donor Program (AADP) is a champion nonprofit dedicated to increasing the availability of potential stem cells donors for patients with life threatening diseases curable by a stem cell transplant. Based in Alameda, CA, AADP holds donor registration drives and outreach events to Asian, Pacific Islander, and mixed race communities in the Bay Area.

Stem cells are found inside bone marrow, and those cells can turn into red blood cells, white blood cells and platelets. AADP explains that red blood cells carry oxygen throughout the body; white blood cells help fight infections; and platelets help control bleeding. Diseases like leukemia, sickle cell anemia, blood cancers, and many other immune diseases can be treated with a bone marrow or stem cell transplant. This soft tissue is incredibly important to our health.

To learn more about why bone marrow donation is important, and why it is particularly important in Asian Pacific American and mixed race communities, I reached out to Ruby Law, AADP's Recruitment Director.

Hyphen: When does one need a bone marrow donation, and what does it do?

Ruby Law: Disease can affect the marrows ability to function. When this happens, a bone marrow or cord blood transplant could be the best treatment option. For some diseases, transplant offers the only potential cure. A bone marrow or cord blood transplant replaces unhealthy blood-forming cells with healthy ones. Blood-forming cells are also called blood stem cells. Blood stem cells are immature cells that can grow into red blood cells, white blood cells and platelets. Every year, 12,000 patients with blood diseases such as leukemia and lymphoma, sickle cell and other life-threatening diseases need a bone marrow or umbilical cord blood transplant.

Hyphen: Why is bone marrow donation important for Asian Pacific American and mixed-Asian Pacific Americans communities to address in discussions about health?

RL: A patient needs a matching donor for a successful transplant. The closer the match, the better for the patient. Patients are more likely to match someone from their own race or ethnicity. For example a Chinese patient will most likely need a Chinese donor, while a Japanese patient will most likely need a Japanese donor. Out of 10 million registrants in the United States, only 7% of the registrants are Asian and only 4% are of mixed race. Most Asian or Mixed Asian patients cannot find any matching donor in the registry because there are not enough Asian, mixed Asian and minority donors.

Ruby Law, Asian American Donor Program (AADP) Recruitment Director

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Down to the Bone: The Need for API Bone Marrow Donors

Recommendation and review posted by Bethany Smith

KINDHEARTED Andrew Gibson is giving somebody the gift of life, after being inspired by a workmates little boy.

Andrew, 29, from Southend, signed up to the bone marrow transplant register after hearing about 21-month-old Jack Kleinberg.

Jack, of St James Gardens, Westcliff, is facing the second bone marrow transplant in his short life to help him beat two life-threatening conditions.

His parents are hoping the op will fight the effects of Wiskott Aldrich syndrome and familial Mediterranean fever.

After hearing Jacks story, from Jacks mum, Vicki Parrott, a workmate at the Hood Groups Southend insurance office, Andrew donated stem cells for use by an un-named patient in need.

Andrew was disappointed to learn he wouldnt be a match for Jack, but decided to go ahead all the same and Ms Parrott is delighted her son's example is helping others in need.

She said: At the office Christmas party, I found out Andrew, who had joined the Anthony Nolan bone marrow register when Jack first got ill, was recently called up as a match. He donated his stem cells a month ago to a stranger.

I couldn't believe it. I was so emotional and hugged him loads. I dont know if well ever meet Jacks donor, so this is the closest thing weve had.

Its overwhelming to think theres someone out there whos had a second chance at life because of Jacks story. Itsmade my year.

Andrew said: There was an email going around at work, urging people to sign up to the Anthony Nolan register, as a way of showing our support for Vicki and her son Jack, who had just been diagnosed. Id never heard of Anthony Nolan before, but I didnt hesitate. Seeing Vicki at the Christmas party really made it sink in what Id done. It was an emotional moment and it was clear how much it meant to her.

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Andrew donates bone marrow after hearing about brave boy

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NEW DELHI: India may soon have an official database on stem cell donors and recipients. The health ministry is evaluating a proposal along with All India Institute of Medical Sciences (AIIMS) to create a donor registry as part of the National Health Mission (NHM), a senior official told TOI.

The proposal suggests enrolling all district hospitals in the first phase to seek stem cell details from across the country. "Once a stem cell donor registry is in place, a willing donor can be contacted and one can coordinate easily. Also, this would enhance access to safe blood," the official said.

Stem cells, found in bone marrow, are like building blocks which can grow into any normal cell of the body such as red blood cells to carry oxygen, white blood cells to fight infection, or platelets to stop bleeding.

Apart from the donor registry, the ministry is also looking at creating facilities for human leucocyte antigen (HLA) typing. HLA-typing is a process conducted for matching donors and recipients of stem cell. HLA-typing is necessary to minimize rejection of stem cell transplant, experts say.

Once created, this would be the first government registry in the country. Till now, such registries have been run in the country by a few NGOs such as Bharat Stem Cells.

According to Bharat Stem Cells, there is usually 25% chance of a patient finding a matching donor within the family. The rest depend on unrelated voluntary stem cell donors.

Stem cell therapy has been shown to be effective in various blood disorders and in treatment of cancer. It is widely used in bone marrow transplantation. However, stem cell treatment remains expensive because of limited research as well as unavailability and lack of coordination between donors and recipients. Some private hospitals charge as much as Rs 1 lakh per session for stem cell therapy. On an average, stem cell treatment is estimated to cost around Rs 15-16 lakh.

According to the official, the idea behind including stem cell into NHM is to make it affordable by creating records and providing facilities.

Stay updated on the go with The Times of Indias mobile apps. Click here to download it for your device.

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Stem cell registry will make cancer treatment cheaper

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John and Leslie Malone pose with Maikel at Harmony Sporthorses, December 2, 2014.

The largest ever cash donation to Colorado State University stems from a novel treatment to get a dressage horse with a bum knee back into the show ring.

John and Leslie Malone's $42.5 million gift, announced Monday, will create the CSU Institute for Biologic Translational Therapies in the College of Veterinary Medicine and Biomedical Sciences, a 100,000-square-foot facility to develop stem-cell research into commercially viable treatments for animals and humans.

"This is the largest cash gift in the history of the university and it's absolutely staggering," said Brett Anderson, CSU's vice president for advancement. "It really allows us to be the best in the nation."

The Malone money will fund half of the $65 million cost to construct the facility. The school is looking for more donations to match the Malones' contribution. So far, an additional $10 million has been raised.

The Malones also provided $10 million to cover the Institute's operating expenses once the facility is built.

"The Malones have been so gracious. We asked them if they want to put their name on the building, but they said if it's helpful to you in order to get another major donor, we are happy to let you name it for someone else," Anderson said. "They are an incredible couple."

John Malone, who made his millions at the helm of Tele-Communications Inc. and now chairs the giant Liberty Media Corp., and his wife, Leslie, could not be reached for comment on Monday.

The Malones, who raise and train dressage and jumping horses on a ranch near Kiowa, last year donated $6 million to the school to establish the Leslie A. Malone Presidential Chair in Equine Sports Medicine.

They later brought Blixt, their dressage horse with a bad knee, to the vet school's Orthopaedic Research Center.

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Malones donate $42.5 million to CSU for new stem-cell research facility

Recommendation and review posted by Bethany Smith

Scientists are now creating primordial germ cells (precursors to egg and sperm) with human stem cells and even skin cells. This new work,published inCelltoday, takes us beyond what was previously just done using stem cells.

One of the first events in the early development of both mice and men is the creation of primordial germ cells (PGCs). After an egg is fertilized by sperm, embryonic stem cells begin to differentiate into various basic cell types that make up the fetus. A small number of these stem cellsdevelop into primordial germ cells, which will go on to become egg or sperm. Germ cells are immortal in the sense that they provide an enduring link between all generations, carrying genetic information from one generation to the next,Cambridges Azim Suranisays in auniversity statement.

Researchers have now figured out how to reprogram cells to act like embryonic stem cells. These induced pluripotent stem (iPS) cells have been used to develop humanretinasandintestines, for example, according to IFLScience. Researchers have also created iPS cells that could differentiate into primordial germ cells, but its only been successful in rodents.

Now, a team of researchers from the U.K. and Israel traced the genetic chain of events that directs a human stem cell to develop into a primordial germ cell. This stage in our development is called specification,and once PGCs become specified,they continue developing toward precursor sperm cells or ova pretty much on autopilot,Jacob Hanna from the Weizmann Institute of Sciencesays in anews release.

A master gene called SOX17 works to direct stem cells which in previous studies was found to direct stem cells into becoming lung, gut and pancreas cells. But the gene working as part of primordial germ cell specification is a new development.

The international team followed their discovery by actually making primordial germ cells in the lab. Using both embryonic stem cells and iPS cells (reprogrammed adult skin cells) from both males and females, the researchersmade sex cell precursors with up to 40 percent efficiency. When they compared the protein markers of their new, lab-grown PGCs with real PGCs collected from aborted fetuses,Nature reports, they were found to be very similar.

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Skin cells are being used to create artificial sperm and eggs

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