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Beware accuracy of mail-in genetic tests

The Perfect 46 is a coming movie in which people are routinely tested to find an ideal genetic partner with whom to create a child. In the real world, things are almost as far-out. Some companies can screen and alert you to DNA variants that might combine with your partner's to produce an offspring with a rare, single-gene disease, such as cystic fibrosis. Others look for genetic indications that you could develop a disease down the road, so you can make decisions about prevention or medical treatment.

But there are lots of questions about how reliable these mail-in-a-vial-of-blood-or-saliva genetic tests are. The U.S. Food and Drug Administration has ordered one big-buzz company to stop shipping its $99 spit kit. Seems the company can't prove the accuracy of its tests for 254 genetic problems and was suggesting what people might do with test results. That could have devastating consequences. For example, a false-positive result for a high-risk gene-linked condition such breast cancer might lead a woman to have a mastectomy when she didn't really need to consider having one.

So whether you're curious about your genome or you have a family history of a disorder that you want to avoid passing on to your children, get tested only if advised by a doctor whos trained in genetic medicine and have a second test done to confirm results. These tests will get more accurate, but they arent there yet.

A real fountain of youth is inside you: the sweat that comes from physical activity. A new eight-year study looked at 3,500 folks around age 65: Those whod always gotten moderate or vigorous exercise were seven times more likely to have healthy aging; even those who didnt exercise until they were already old tripled their chances of a healthy old age. When you're sweatin and smilin, dementia and depression, as well as heart disease, cancer and Type 2 diabetes, just happen less often.

The two keys to keeping active or to getting movin as you age: Having a group or partner to do it with, and finding an activity you enjoy. So sign up for a group class at the gym or get a workout buddy or online coach to support you. And experiment with walking, jogging, cycling, swimming, yoga and strength-building or flexibility exercises to see what sustains your interest. Then sweat it out for at least 30 minutes daily! P.S. You cut the risk of stroke 20 percent by sweating four times a week.

Nothing about 3-D ever has been as life-changing as the way 3-D in mammograms can see breast tissue. Digital breast tomosynthesis, the name for these high-tech trouble-spotters, can identify 22 percent more cancers and avoid many false-positives (and unnecessary biopsies, particularly among women with dense breast tissue and younger women) that result from use of conventional digital mammogram machines.

And theyre potentially lifesaving for people with a family history of BRCA-2 breast cancer. New information reveals that family members who test BRCA-2-free are still at a much-increased risk of breast cancer, compared with folks with who have no family history of BRCA-2. For them, mammograms need to be as accurate as possible, every time, and 3-D images are just that.

Other people who might be grateful for the imaging power of tomosynthesis? Anyone with high LDL cholesterol is at increased risk for estrogen-dependent breast cancer (about 75 percent of breast cancers). Thats because a byproduct of cholesterol acts like estrogen in the body, making folks with high cholesterol more vulnerable. Regular 3-D screenings can catch breast cancer at its earliest and most curable stage.

Bonus tip: If you have elevated LDL, taking a cholesterol-lowering statin and aspirin are smart ways to reduce breast-cancer risk; statins reduce the estrogen-like powers of that cholesterol byproduct, and a daily aspirin cuts the risk by 40 percent.

Want to bring a little good cheer into a friend's life for various occasions scattered over the New Year? (Not a bad resolution.) Heres our list of eight mini-gifts that will make everyone healthier and happier (including you, because giving is a great feeling).

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Beware accuracy of mail-in genetic tests

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Gene Therapy Method Targets Tumor Blood Vessels

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Newswise Working in mice, researchers at Washington University School of Medicine in St. Louis report developing a gene delivery method long sought in the field of gene therapy: a deactivated virus carrying a gene of interest that can be injected into the bloodstream and make its way to the right cells.

In this early proof-of-concept study, the scientists have shown that they can target tumor blood vessels in mice without affecting healthy tissues.

Most current gene therapies in humans involve taking cells out of the body, modifying them and putting them back in, said David T. Curiel, MD, PhD, distinguished professor of radiation oncology. This limits gene therapy to conditions affecting tissues like the blood or bone marrow that can be removed, treated and returned to the patient. Today, even after 30 years of research, we cant inject a viral vector to deliver a gene and have it go to the right place.

But now, investigators at Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine say they have designed a targetable injectable vector a deactivated virus that homes in on the inner lining of tumor blood vessels and does not get stuck in the liver, a problem that has plagued past attempts.

The findings are reported Dec. 23 in PLOS ONE.

Building on their own previous work and others, the researchers engineered this viral vector to turn on its gene payload only in the abnormal blood vessels that help fuel and nurture tumor growth. But unlike most therapies aimed at tumor vasculature, the goal is not to destroy the cancers blood supply.

We dont want to kill tumor vessels, said senior author Jeffrey M. Arbeit, MD, professor of urologic surgery and of cell biology and physiology. We want to hijack them and turn them into factories for producing molecules that alter the tumor microenvironment so that it no longer nurtures the tumor. This could stop the tumor growth itself or cooperate with standard chemotherapy and radiation to make them more effective. One advantage of this strategy is that it could be applied to nearly all of the most common cancers affecting patients.

In theory, Arbeit pointed out, this approach could be applied to diseases other than cancer in which the blood vessels are abnormal, including conditions like Alzheimers disease, multiple sclerosis or heart failure.

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Transitioning epithelial cells to mesenchymal cells enhances cardiac protectivity

PUBLIC RELEASE DATE:

23-Dec-2013

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

Putnam Valley, NY. (Dec. 23, 2013) Cell-based therapies have been shown to enhance cardiac regeneration, but autologous (patient self-donated) cells have produced only "modest results." In an effort to improve myocardial regeneration through cell transplantation, a research team from Germany has taken epithelial cells from placenta (amniotic epithelial cells, or AECs) and converted them into mesenchymal cells. After transplanting the transitioned cells into mice modelling a myocardial infarction, the researchers found that the epithelial-to-mesenchymal transition (EMT) was beneficial to cardiac regeneration by lowering infarct size. They concluded that EMT enhanced the cardioprotective effects of human AECs.

The study will be published in a future issue of Cell Transplantation but is currently freely available on-line as an unedited early e-pub at: http://www.ingentaconnect.com/content/cog/ct/pre-prints/content-ct1046Roy.

The authors noted that AECs have been shown to share characteristics of pluripotent cells that are able to transform into all other kinds of cells, and that their isolation and clinical-grade expansion of AECs is "relatively straightforward."

"Our hypothesis was that EMT would improve cardiac regeneration capacity of amniotic epithelial cells by increasing their mobility and extracellular matrix modulating capacity," said study corresponding author Dr. Christof Stamm of the Berlin Brandenburg Center for Regenerative Therapies, Berlin, Germany. "Indeed, four weeks after the mice were modeled with myocardial infarction the mice subsequently treated with EMT-AECs were associated with markedly reduced infarct size."

According to the researchers, as a result of the EMT process the AECs lost their "cobblestone" structure and acquired a fibroblastoid shape which was associated with a number of biological alterations that ultimately aided their mobility and altered their secretions.

One direct result of the EMT-AEC treatment was that EMT-AEC-treated hearts displayed "better global systolic function and improved longitudinal strain rate in the area of interest."

The researchers added that while AECs may be useful in the context of cardiovascular regeneration, it is unclear whether the usefulness requires "actual stemness" or "pluripotency-unrelated secretory mechanisms."

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Bone marrow or peripheral blood stem cell transplant for non …

Stem cell transplants are sometimes used to treat lymphoma patients who are in remission (that is, they seem to be disease-free after treatment) or who have had the cancer come back (relapse) during or after treatment.

In a stem cell transplant, doctors give higher doses of chemotherapy (chemo) than would normally be safe. Giving high-dose chemo destroys the bone marrow, which prevents new blood cells from being made. This could normally lead to life-threatening infections, bleeding, and other problems due to low blood cell counts. To get around this problem, after chemo (and sometimes radiation treatment) is finished, the patient gets an infusion of blood-forming stem cells to restore the bone marrow. Blood-forming stem cells are very early cells that can make new blood cells. They are different from embryonic stem cells.

There are 2 main types of stem cell transplants. The difference is the source of the blood-forming stem cells.

Autologous stem cell transplant: For this type of transplant, blood-forming stem cells from the patient's own blood or, less often, from the bone marrow, are removed, frozen, and stored until after treatment. Then the stored stem cells are thawed and given back to the patient through a vein. The cells enter the bloodstream and return to the bone, replacing the marrow and making new blood cells.

This is the most common type of transplant used to treat lymphoma, but it generally isn't an option if the lymphoma has spread to the bone marrow or blood. If that happens, it may be hard to get a stem cell sample with no lymphoma cells in it.

Donor (allogeneic) stem cell transplant: In this approach, the stem cells come from someone else usually a matched donor whose tissue type is very close to the patient's. The donor may be a brother or sister or someone not related to the patient. Sometimes umbilical cord stem cells are used.

This type of transplant is not used a lot in treating non-Hodgkin lymphoma (NHL) because it can have severe side effects that are especially hard for patients who are older or who have other medical problems. And it is often hard to find a matched donor.

"Mini transplant": Many older patients can't have a regular allogeneic transplant that uses high doses of chemo. But some may be able to have what is called a "mini transplant" (or a non-myeloablative transplant or reduced-intensity transplant). For this type of allogeneic transplant, lower doses of chemo and radiation are used so they do not destroy all the stem cells in the bone marrow. The patient is then given the donor stem cells. These cells enter the body and form a new immune system, which sees the cancer cells as foreign and attacks them (called a "graft-versus-lymphoma" effect).

Patients can often do a mini transplant as an outpatient. But this is not yet a standard part of the treatment for most types of lymphoma.

Stem cell transplant is a complex treatment, so it is important to have it done at a hospital where the staff has experience with the procedure. Some transplant programs may not have experience in certain transplants, especially those from unrelated donors.

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Bone marrow or peripheral blood stem cell transplant for non ...

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Skin Stem Cell Serum, 1 oz – LifeExtension.com

Comments about Cosmesis Skin Stem Cell Serum, 1 oz:

WOW. I am shocked that there are not a ton of raving reviews, but then again, this is a new product. I have to say that I have tried EVERYTHING out there for the loose and sagging skin on my neck, fine lines around the mouth and eyes, and budding "jowls" on the sides of my face. A few products made some difference, but by and large: Nothing. But this product made a *HUGE* difference. My neck is so much firmer, I din't even notice it anymore when I look in the mirror. Fine lines, "marionette" laugh lines, and jowliness are all improved - dramatically. How I use it: After washing, and before moisturizer ( use ROC, and I think these 2 work synergystically). A also put a few drops on throughout the day, onto problem areas, right over my makeup. And then before bed - with nothing else. I am ordering 2 more bottles. This stuff is something that works even more than they say it will ... GET IT.

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Australian scientists grow mini-kidney in lab

Sci-Tech Technology News

The kidney as seen in a petri dish. Photo: UQ

A mini-kidney has been grown in an Australian laboratory from what were originally skin cells, boosting hopes for the future treatment of kidney disease.

The study adds support to a science-fiction-like goal of taking skin cells from a patient, using them to grow a kidney and then implanting it into the same patient, circumventing problems with transplant rejection.

The result of the work was a kidney measuring in the millimetres. The next step will be finding ways to increase its size.

The team who grew the mini-kidney: Professor Melissa Little, Dr Jessica Vanslambrouck and Dr Minoru Takasato. Photo: UQ

Lead researcher Professor Melissa Little spent years researching which genes were switched on or off during natural kidney development.

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The team manipulated skin cells that had been effectively turned into embryonic stem cells so that they began to "self-organise", arranging themselves into complex structures.

Professor Brandon Wainwright, the director of the Institute for Molecular Bioscience at the University of Queensland, where the study was conducted, said this was the first time self-organisation has been observed in a kidney.

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Stem Cell Research at Johns Hopkins Medicine: Stem Cell Therapy

The most successful stem cell therapybone marrow transplanthas been around for more than 40 years. Johns Hopkins researchers played an integral role in establishing the methods for how bone marrow transplants are done, which you can read about in Human Stem Cells at Johns Hopkins: A Forty Year History. The latest developments in bone marrow transplants are Half-Matched Transplants, which may be helpful in treating more diseases than ever before. In The Promise of the Future, three Hopkins researchers who study blood diseases share their ideas about which technologies hold most promise for developing therapies.

Induced pluripotent stem cells, or iPS cells, are adult cells that are engineered to behave like stem cells and to regain the ability to differentiate into various cell types. Engineered Blood describes current research in generating blood cells that contain disease traits with Those Magic Scissors so we can learn more in the lab about diseases like sickle cell anemia.

Adult stem cells are being used in other applications as well. Stem Cells Enhance Healing tells of an undergraduate biomedical engineering team at Hopkins that has devised medical sutures containing stem cells which speed up healing when stitched in. And A New Path for Cardiac Stem Cells tells of how a patients own heart stem cells were used to repair his heart after a heart attack.

In the podcast What Anti-Depression Treatments Actually Target In The Brain, Hongjun Song reveals that current antidepressant therapies may have unknowingly been targeting stem cells all along.

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Stem cell therapy in India for Avascular Necrosis – Video


Stem cell therapy in India for Avascular Necrosis

By: StemRx BioScience

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Stem cell therapy in India for Avascular Necrosis - Video

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Adult Stem Cell Therapy | Orthopedic Stem Cell Institute

Our state-of- the- art Orthopedic Stem Cell Institute, at the base of the breathtaking Rocky Mountains, in Johnstown, Colorado, uses our own developing research to provide adult stem cell therapies promoting natural healing. We offer two revolutionary non-invasive treatments, Stem Cell therapy and Platelet Rich Plasma (PRP), which are transforming the lives of athletes and everyday people suffering with Spine and Orthopedic injuries caused by aging and degeneration. Dr. Kenneth Pettine, a world renowned spine surgeon and a pioneer in spinal stem cell therapy opened OSCI for patients seeking possible alternatives to surgery. Pettine and his staff treat patients from around the world, using the newest and most advanced technology to treat a number of conditions, including:knees, hips, spine, shoulders, feet and ankles, and other joints. Our adult stem cell therapyprocedureuses adult mesenchymal, multipotent stem cells taken from a patients own bone marrow and then injected back into the same patient into the injured, damaged, or painful area. For patients in Colorado or anywhere in the United States, we can help.About Adult Stem Cell Therapy

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Adult Stem Cell Therapy | Orthopedic Stem Cell Institute

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West Coast Stem Cell Clinic, TeleHealth, Now Offering PRP Therapy for Hip Arthritis Treatment

Orange County, California (PRWEB) December 23, 2013

The top stem cell therapy clinic in California, TeleHealth, is now offering PRP therapy for hip arthritis. The treatments are often able to delay or avoid the need for joint replacement, and are administered by Board Certified doctors at two clinic locations. Call (888) 828-4575 for more information and scheduling.

Tens of millions of Americans suffer from hip arthritis, and hundreds of thousands of hip replacements are performed every year. Nonoperative treatments prior to joint replacement often consist of steroid injections for pain relief. While the joint replacement typically has excellent pain relief outcomes, there are risks involved and sometimes the eventual need for a revision procedure.

Therefore, a procedure that offers pain relief while offering the potential for joint repair is a welcome option in hip arthritis management. TeleHealth is now offering platelet rich plasma therapy, known as PRP therapy for short, to provide pain relief and potential joint regeneration. The procedure involves a simple blood draw at the office, with the blood then being spun down in a centrifuge to obtain a solution of concentrated platelets and growth factors.

The PRP is then injected into the symptomatic hip, providing an immense amount of regenerative medicine to the arthritic joint. The material then calls in the body's stem cells as well. Published studies on PRP for joint arthritis have so far shown excellent results for pain relief.

Often times, PRP therapy at TeleHealth is covered by insurance. Verification by the clinic is able to check prior to the procedure. Patients are seen from all over Southern California for treatment of hip, knee and shoulder arthritis along with tendonitis and ligament injury. This often includes athletes, weekend warriors, executives, senior citizens and more.

To receive further information on stem cell and PRP therapy for joint arthritis or soft tissue injury, call (888) 828-4575.

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West Coast Stem Cell Clinic, TeleHealth, Now Offering PRP Therapy for Hip Arthritis Treatment

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TiGenix : TiGenix secures EUR 10 million in financing from.

Regulated information December 23, 2013

TiGenix secures EUR 10 million in financing from Kreos Capital Company ends year in strong position to fully leverage leading cell therapy platform

Leuven (BELGIUM) - December 23, 2013 - TiGenix (Euronext Brussels: TIG) announced today that it has signed a structured debt financing agreement of up to EUR10 million with Kreos Capital (Kreos), Europe's largest and leading provider of growth debt to high-growth companies.

The funds will supplement the EUR 12 million in equity financing TiGenix recently secured from Gri-Cel SA, and will be used for general growth purposes as TiGenix advances the development of its expanding pipeline of cell therapy products.

"In combination with the recent strategic investment by Gri-Cel/Grifols this funding significantly strengthens our financial position and allows us to aggressively expand our pipeline of proprietary cell therapy products," said Eduardo Bravo, CEO of TiGenix. "Importantly, it enables us to independently finalize the Phase III trial with our lead product Cx601 and file for European registration, and thus capture significantly more value from a potential partnering agreement. The addition of debt financing represents an attractive and, except for a limited warrant component, non-dilutive complement to our existing capital structure. We are delighted to finish the year with a solid balance sheet and additional resources to optimally leverage our world-leading cell therapy technology platform as we move forward."

"Kreos is very pleased to be able to support TiGenix as it further builds its strong cell therapy portfolio," said Maurizio PetitBon, General Partner of Kreos. "TiGenix constitutes one of our first investments in the public market, and we have been very impressed by the quality of the team, the technology platform and the underlying business."

About the loan agreement Draw down: three tranches at the Company's discretion: EUR 5 million in early February 2014; EUR 2.5 million by end of May, 2014; EUR 2.5 million by end of September, 2014 Term: four years Amortization: starts at first anniversary Interest: 12.5% fixed annual interest rate Structure: security over certain assets; no financial covenants Warrants:approximately 2 million warrants to be granted to Kreos, subject to shareholder approval; exercise price to equal 30-day average closing price of TiGenix share at date of issue of warrants; if shareholders do not approve the issue of warrants, Kreos is entitled to a payment of EUR 890,000 over 3 years

For more information: Eduardo Bravo Chief Executive Officer eduardo.bravo@tigenix.com

Claudia D'Augusta Chief Financial Officer claudia.daugusta@tigenix.com

Hans Herklots Director Investor & Media Relations hans.herklots@tigenix.com +32 16 39 60 97

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Types of Treatment – Gene Therapy | MD Anderson Cancer Center

Much of today's cancer research is devoted to finding missing or defective genes that cause cancer or increase an individual's risk for certain types of cancer. Gene research at MDAnderson has resulted in many important discoveries. We identified the mutated multiple advanced cancers gene (MMAC1) involved in some common cancers. We also performed the first successful correction of a defective tumor suppressor gene (p53) in human lung cancer. Current gene therapies are experimental, and many are still tested only on animals. There are some clinical trials involving a very small number of human subjects.

The potential benefits of gene therapy are two-fold:

The focus of most gene therapy research is the replacement of a missing or defective gene with a functional, healthy copy, which is delivered to target cells with a "vector." Viruses are commonly used as vectors because of their ability to penetrate a cells DNA. These vector viruses are inactivated so they cannot reproduce and cause disease. Gene transfer therapy can be done outside the body (ex vivo) by extracting bone marrow or blood from the patient and growing the cells in a laboratory. The corrected copy of the gene is introduced and allowed to penetrate the cells DNA before being injected back into the body. Gene transfers can also be done directly inside the patients body (in vivo).

Other therapies include:

Gene therapy is a complicated area of research, and many questions remain unanswered. Some cancers are caused by more than one gene, and some vectors, if used incorrectly, can actually cause cancer or other diseases. Replacing faulty genes with working copies also brings up ethical issues that must be addressed before these therapies can be accepted for preventing cancer. Talk to your cancer specialist about the implications of gene therapy.

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Researchers identify gene that influences the ability to remember faces

PUBLIC RELEASE DATE:

23-Dec-2013

Contact: Lisa Newbern lisa.newbern@emory.edu 404-727-7709 Emory Health Sciences

New findings suggest the oxytocin receptor, a gene known to influence mother-infant bonding and pair bonding in monogamous species, also plays a special role in the ability to remember faces. This research has important implications for disorders in which social information processing is disrupted, including autism spectrum disorder. In addition, the finding may lead to new strategies for improving social cognition in several psychiatric disorders.

A team of researchers from Yerkes National Primate Research Center at Emory University in Atlanta, the University College London in the United Kingdom and University of Tampere in Finland made the discovery, which will be published in an online Early Edition of Proceedings of the National Academy of Sciences.

According to author Larry Young, PhD, of Yerkes, the Department of Psychiatry in Emory's School of Medicine and Emory's Center for Translational Social Neuroscience (CTSN), this is the first study to demonstrate that variation in the oxytocin receptor gene influences face recognition skills. He and co-author David Skuse point out the implication that oxytocin plays an important role in promoting our ability to recognize one another, yet about one-third of the population possesses only the genetic variant that negatively impacts that ability. They say this finding may help explain why a few people remember almost everyone they have met while others have difficulty recognizing members of their own family.

Skuse is with the Institute of Child Health, University College London, and the Great Ormond Street Hospital for Children, NHS Foundation Trust, London.

Young, Skuse and their research team studied 198 families with a single autistic child because these families were known to show a wide range of variability in facial recognition skills; two-thirds of the families were from the United Kingdom, and the remainder from Finland.

The Emory researchers previously found the oxytocin receptor is essential for olfactory-based social recognition in rodents, like mice and voles, and wondered whether the same gene could also be involved in human face recognition. They examined the influence of subtle differences in oxytocin receptor gene structure on face memory competence in the parents, non-autistic siblings and autistic child, and discovered a single change in the DNA of the oxytocin receptor had a big impact on face memory skills in the families. According to Young, this finding implies that oxytocin likely plays an important role more generally in social information processing, which is disrupted in disorders such as autism.

Additionally, this study is remarkable for its evolutionary aspect. Rodents use odors for social recognition while humans use visual facial cues. This suggests an ancient conservation in genetic and neural architectures involved in social information processing that transcends the sensory modalities used from mouse to man.

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Changes in Gene Explain More of Inherited Risk for Rare Disease

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Newswise BIRMINGHAM, Ala. Changes to a gene called LZTR1 predispose people to develop a rare disorder where multiple tumors called schwannomas form near nerve pathways, according to a study published today in the journal Nature Genetics and led by researchers from the University of Alabama at Birmingham.

The formation of multiple schwannomas is one sign that a person has the genetic disorder called schwannomatosis, which is one of the three major forms of neurofibromatosis, besides neurofibromatosis types 1 and 2. The condition is so named because the tumors originate in Schwann cells that form in sheaths that insulate nerves to cause severe, chronic pain in many patients.

To date, physicians cannot give most patients a confirmed diagnosis for schwannomatosis, even if they show symptoms, because changes in genes linked to the condition by past studies explain only about 50 percent of familial and less than 10 percent of sporadic cases.

Work in 2007 determined that inheritable mutations in SMARCB1 predisposed to schwannomatosis. In addition, the schwannomas showed a loss of the long arm of chromosome 22, and different mutations in the neurofibromatosis type 2 (NF2) gene were found in each tumor studied.

Despite these many known details, much of the risk for schwannomatosis remained unexplained going into the current study. Several research groups had proposed that other schwannomatosis-predisposing genes existed, but no one had found any. Specializing in genetic studies for all forms of the neurofibromatoses, the UAB Medical Genomics Laboratory chose to focus its research on a subset of schwannomatosis samples that did not harbor SMARCB1 mutations, which framed their experiments such that the role of LZTR1 was revealed.

We have been working urgently to identify the genetic mechanisms behind these diseases because doing so is central to efforts to understand schwannoma tumor development as well as to identify new drug treatments, said Ludwine Messiaen, Ph.D., director of the Medical Genomics Laboratory, professor in the Division of Clinical Genetics in the Department of Genetics within the UAB School of Medicine and corresponding study author. This is pertinent as only some of the schwannomas can be surgically removed without neurological consequences, and there is no widely accepted approach for treating the severe, chronic pain in these patients.

The study, conceived and coordinated by Arkadiusz Piotrowski of the University of Gdansk in Poland and Messiaen, resulted in the identification of LZTR1 on chromosome 22q as a novel tumor-suppressor gene predisposing to multiple schwannomas in patients without a mutation in SMARCB1. The results were seen in patients whose schwannomas also showed a loss of the long arm of chromosome 22 and a different somatic NF2 mutation in each tumor. The team found that in all 25 schwannomas studied from 16 unrelated schwannomatosis patients, all tumors showing a loss of the long arm of chromosome 22 and a different somatic NF2 mutation in each tumor also had LZTR1 mutations present, strongly supporting the contribution to the disease by the combination of these factors.

The LZTR1 mutations were found using massive parallel sequencing (e.g. next-generation sequencing) of highly evolutionary conserved sequences specifically on chromosome 22. LZTR1 mutations likely will be found in a high fraction of familial as well as sporadic schwannomatosis patients, whose predisposition is not caused by SMARCB1, says Messiaen. Indeed, LZTR1 mutations were found in 6/6 familial and 8/11 sporadic such patients. Both causal genes, LZTR1 and SMARCB1, show a potential functional link to chromatin remodeling mechanisms, which play a crucial role in cell differentiation and adaptation to environmental stimuli. Further, LZTR1 and SMARCB1 are known to interact with histone deacetylase 4 or HDAC4, which is a target for histone deacetylase inhibitors, a new class of anti-tumor drugs. The present findings will encourage further studies aiming at potential treatment for schwannomatosis.

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Genetic Engineering – Biology Questions and Answers

Learn the Fundamentals of Biotechnology

1. What is biotechnology?

Biotechnology is the application of biological knowledge to obtain new techniques, materials and compounds of pharmaceutical, medical, agrarian, industrial and scientific use, i.e., of practical use.

The pioneer fields of biotechnology were agriculture and the food industry but nowadays many other practical fields use its techniques.

2. What is genetic engineering?

Genetic engineering is the use of genetic knowledge to artificially manipulate genes: It is one of the fields of biotechnology.

3. At the present level of the biotechnology what are the main techniques of genetic engineering?

The main techniques of genetic engineering today are: the recombinant DNA technology (also called genetic engineering itself) in which pieces of genes from an organism are inserted into the genetic material of another organism producing recombinant beings; the nucleus transplantation technology, popularly known as cloning, in which a nucleus of a cell is grafted into a enucleated egg cell of the same species to create a genetic copy of the donor (of the nucleus) individual; the technology of DNA amplification, or PCR (polymerase chain reaction), that allows millions replications of chosen fragments of a DNA molecule.

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Genetic Engineering | The Earth Times | Encyclopaedia

Genetic engineering is a scientific development that involves the artificial manipulation of an organism's genes by using techniques such as molecular cloning and transformation in order to alter their nature and structure. Many of these transformations are achieved by manipulation of an organism's DNA, which effectively is the code inscribed in every cell to determine how it will function.

As with most scientific developments there are a number of arguments both for and against.

There has been a considerable amount of research into the genetic engineering of crops such as potatoes, tomatoes, soybean and rice, with the aim of obtaining new strains that have better nutritional qualities and better yields.

In a world where there is a continual need to produce more food; genetically engineered crops are being developed to grow on land that is currently not suitable for cultivation. By manipulating the genes in crops the aim is to improve their nutritional value, their rate of growth and their flavour.

Seeds can be engineered so that they are resistant to pests and can survive cultivation in relatively harsh climatic conditions. Biotechnology can also be used to slow down the process of food spoilage so that fruit and vegetables can have a longer shelf life.

Although on the face of it genetic engineering might appear to bring a number of very positive benefits, there is by no means a universal approval of this practice.

Greenpeace International is very firm in its opposition, pointing out that there is no adequate scientific understanding of the impact that genetically modified organisms might have on the world's environment and on human health.

Undesirable genetic mutations can lead to allergies in crops and critics believe that while genetic engineering might enhance taste and appearance of foodstuffs, it could also hamper the nutritional value. At the very least, in order to inform consumers, all foodstuffs or products that have been made from genetically modified food should be clearly labelled as such at point of sale.

Whole new substances such as proteins and other food nutrients can be produced as a result of genetic engineering. The genetic modification of foods can be used to increase their medicinal value, thus making available a range of homegrown medical vaccines.

Greenpeace maintains that commercial interests are the prime movers to introduce genetically modified organisms into the food chain and stresses that once these organisms have been released into the environment they cannot be recalled.

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ANN ARBOR: Study: Many pediatricians uncomfortable providing care to kids with genetic conditions

ANN ARBOR Many primary care pediatricians say they feel uncomfortable providing health care to patients with genetic disorders. Also, many do not consistently discuss all risks and benefits of genetic tests with patients, according to research published recently in the American Journal of Medical Genetics.

Investigators from the University of Michigans C.S. Mott Childrens Hospital and The Childrens Hospital at Montefiore (CHAM) conducted a national survey of 88 physicians who are part of the American Academy of Pediatrics Quality Improvement Innovation Networks, assessing their comfort level ordering genetic tests for their pediatric patients, their attitudes toward genetic medical care and their choices regarding taking family histories. The majority of those physicians reported ordering few genetic tests (three or less times) per year, excluding newborn screening which is federally mandated for all newborns; few (13 percent) strongly agreed that they discussed the potential risks, benefits, and limitations of genetic tests with all their patients and only half felt competent in providing healthcare to patients with genetic disorders.

While genetics has historically been viewed as a discipline focused on rare conditions, recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine, said Dr. Beth Tarini, senior author, assistant professor of pediatrics, Child Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics. Unfortunately, most PCPs have received insufficient education and training about genetics, which has left them uncertain about their role in providing genetics related care.

The study found that 100 percent of study participants stated that taking a family history is important, but less than one-third stated that they gather a minimum of a three-generation family history, a basic component of a genetic medical evaluation. Previous studies have shown that using family history and genetic information greatly improved outcomes for patients so researchers encourage patients to know their family history and share this with their providers in order to optimize their health care.

PCPs play an integral role in caring for children with genetic conditions and it is vital that they feel comfortable identifying issues and providing comprehensive care to suit their patients unique needs, said Dr. Michael L. Rinke, lead author and assistant medical director for quality, CHAM, and assistant professor of pediatrics at Albert Einstein College of Medicine of Yeshiva University. Thousands of children in the U.S. are diagnosed with genetic disorders annually and in order to optimize outcomes for these patients early identification and medical intervention is essential.

The researchers say that robust education, increased access to resources, improved electronic health records systems to document family histories and rigorous quality improvement efforts are key to enhancing integration of genetic medicine into routine primary preventative care.

Tarini says that the national Genetics in Primary Care Institute Quality Improvement Project hopes to identify effective strategies so that physicians who are at the forefront of diagnosing and managing patients with genetic disorders feel confident and competent in their abilities to provide care for these patients.

Investigators from the University of Michigans C.S. Mott Childrens Hospital and The Childrens Hospital at Montefiore (CHAM) conducted a national survey of 88 physicians who are part of the American Academy of Pediatrics Quality Improvement Innovation Networks, assessing their comfort level ordering genetic tests for their pediatric patients, their attitudes toward genetic medical care and their choices regarding taking family histories. The majority of those physicians reported ordering few genetic tests (three or less times) per year, excluding newborn screening which is federally mandated for all newborns; few (13 percent) strongly agreed that they discussed the potential risks, benefits, and limitations of genetic tests with all their patients and only half felt competent in providing healthcare to patients with genetic disorders.

While genetics has historically been viewed as a discipline focused on rare conditions, recent genomic advances have highlighted that genetics has a role in common conditions encountered in primary care medicine, said Dr. Beth Tarini, senior author, assistant professor of pediatrics, Child Health Evaluation & Research (CHEAR) Unit, Division of General Pediatrics, University of Michigan and co-medical director of the Genetics in Primary Care Institute (GPCI), a project of the American Academy of Pediatrics. Unfortunately, most PCPs have received insufficient education and training about genetics, which has left them uncertain about their role in providing genetics related care.

The study found that 100 percent of study participants stated that taking a family history is important, but less than one-third stated that they gather a minimum of a three-generation family history, a basic component of a genetic medical evaluation. Previous studies have shown that using family history and genetic information greatly improved outcomes for patients so researchers encourage patients to know their family history and share this with their providers in order to optimize their health care.

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ANN ARBOR: Study: Many pediatricians uncomfortable providing care to kids with genetic conditions

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Mendel Genetics Project – Video


Mendel Genetics Project
Western Guilford High School 2013 Genetics class project video.

By: furmanbud

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Forbidden Secrets Of Genetics Israel Eden And The Great Pyramid Revealed By Dr. Scott McQuate – Video


Forbidden Secrets Of Genetics Israel Eden And The Great Pyramid Revealed By Dr. Scott McQuate
http://www.Pyranosis.com - Recently-discovered information from the Sumerian records by Dr. Scott McQuate exposes secrets that have been hidden for thousands of yea...

By: Inner Circle

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Forbidden Secrets Of Genetics Israel Eden And The Great Pyramid Revealed By Dr. Scott McQuate - Video

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Experimental Physiology meeting report: Genomes, genes and genetics – Video


Experimental Physiology meeting report: Genomes, genes and genetics
Steve Lolait reports on the meeting from July 2013 at The University of Bristol, UK. Read full reports at http://ep.physoc.org/content/99/1.toc#SymposiumReports.

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Experimental Physiology meeting report: Genomes, genes and genetics - Video

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Gene Therapy – American Medical Association

Gene therapy is a novel approach to treat, cure, or ultimately prevent disease by changing the expression of a persons genes. Gene therapy is in its infancy, and current therapies are primarily experimental, with most human clinical trials still in the research stages.

How does gene therapy work? Genes are composed of DNA that carries information needed to make proteins the building blocks of our bodies. Variations in the DNA sequence or code of a gene are called mutations, which often are harmless but sometimes can lead to serious disease. Gene therapy treats disease by repairing dysfunctional genes or by providing copies of missing genes.

To reverse disease caused by genetic damage, researchers isolate normal DNA and package it into a vehicle known as a vector, which acts as a molecular delivery truck. Vectors composed of viral DNA sequences have been used successfully in human gene therapy trials. Doctors infect a target cell usually from a tissue affected by the illness, such as liver or lung cellswith the vector. The vector unloads its DNA cargo, which then begins producing the proper proteins and restores the cell to normal. Problems can arise if the DNA is inserted into the wrong place in the genome. For example, in rare instances the DNA may be inserted into a regulatory gene, improperly turning it on or off, leading to cancer.

Researchers continue to optimize viral vectors as well as develop non-viral vectors that may have fewer unexpected side effects. Nonviral gene delivery involves complexing DNA with an agent that allows it to enter a cell nonspecifically. DNA delivered in this manner is usually expressed for only a limited time because it rarely integrates into the host cell genome.

Initial efforts in gene therapy focused on delivering a normal copy of a missing or defective gene, but current programs are applying gene delivery technology across a broader spectrum of conditions. Researchers are now utilizing gene therapy to :

What diseases could be treated with gene therapy? About 4,000 diseases have been traced to gene disorders. Current and possible candidates for gene therapy include cancer, AIDS, cystic fibrosis, Parkinsons and Alzheimers diseases, amyotrophic lateral sclerosis (Lou Gehrig's disease), cardiovascular disease and arthritis.

In cases such as cystic fibrosis or hemophilia, disease results from a mutation in a single gene. In other scenarios like hypertension or high cholesterol, certain genetic variations may interact with environmental stimuli to cause disease.

Has gene therapy been successfully used in humans? Gene therapy is likely to be most successful with diseases caused by single gene defects. The first successful gene therapy on humans was performed in 1990 by researchers at the National Institutes of Health. The therapy treated a four-year-old child for adenosine deaminase (ADA) deficiency, a rare genetic disease in which children are born with severe immunodeficiency and are prone to repeated serious infections.

Since 1990, gene therapy had been tested in human clinical trials for treating such diseases as severe combined immunodeficiency disease (SCID), cystic fibrosis, Canavan's disease, and Gaucher's disease. In 2003, more than 600 gene therapy clinical trials were under way in the United States but only a handful of these are in advanced stages. SCID, in which children lack natural defenses against infection and can only survive in isolated environments, remains the only disease cured by gene therapy.

Are genetic alterations from gene therapy passed on to children? Gene therapy can be targeted to somatic (body) or germ (egg and sperm) cells. In somatic gene therapy, the patients genome is changed, but the change is not passed along to the next generation. In germline gene therapy, the patients egg or sperm cells are changed with the goal of passing on changes to their offspring. Existing gene therapy treatments and experiments are all somatic.

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Gene Therapy - American Medical Association

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Gene Therapy – An Overview – Access Excellence

BIO. "Biotechnology in Perspective." Washington, D.C.: Biotechnology Industry Organization, 1990. Altered Genes Each of us carries about half a dozen defective genes. We remain blissfully unaware of this fact unless we, or one of our close relatives, are amongst the many millions who suffer from a genetic disease. About one in ten people has, or will develop at some later stage, an inherited genetic disorder, and approximately 2,800 specific conditions are known to be caused by defects (mutations) in just one of the patient's genes. Some single gene disorders are quite common - cystic fibrosis is found in one out of every 2,500 babies born in the Western World - and in total, diseases that can be traced to single gene defects account for about 5% of all admissions to children's hospitals.

In the U.S. and Europe, there are exciting new programs to 'map' the entire human genome - all of our genes. This work will enable scientists and doctors to understand the genes that control all diseases to which the human race is prone, and hopefully develop new therapies to treat and predict diseases.

On the other hand, if the gene is dominant, it alone can produce the disease, even if its counterpart is normal. Clearly only the children of a parent with the disease can be affected, and then on average only half the children will be affected. Huntington's chorea, a severe disease of the nervous system, which becomes apparent only in adulthood, is an example of a dominant genetic disease.

Finally, there are the X chromosome-linked genetic diseases. As males have only one copy of the genes from this chromosome, there are no others available to fulfill the defective gene's function. Examples of such diseases are Duchenne muscular dystrophy and, perhaps most well known of all, hemophilia.

Queen Victoria was a carrier of the defective gene responsible for hemophilia, and through her it was transmitted to the royal families of Russia, Spain, and Prussia. Minor cuts and bruises, which would do little harm to most people, can prove fatal to hemophiliacs, who lack the proteins (Factors VIII and IX) involved in the clotting of blood, which are coded for by the defective genes. Sadly, before these proteins were made available through genetic engineering, hemophiliacs were treated with proteins isolated from human blood. Some of this blood was contaminated with the AIDS virus, and has resulted in tragic consequences for many hemophiliacs. Use of genetically engineered proteins in therapeutic applications, rather than blood products, will avoid these problems in the future.

Not all defective genes necessarily produce detrimental effects, since the environment in which the gene operates is also of importance. A classic example of a genetic disease having a beneficial effect on survival is illustrated by the relationship between sickle-cell anemia and malaria. Only individuals having two copies of the sickle-cell gene, which produces a defective blood protein, suffer from the disease. Those with one sickle-cell gene and one normal gene are unaffected and, more importantly, are able to resist infection by malarial parasites. The clear advantage, in this case, of having one defective gene explains why this gene is common in populations in those areas of the world where malaria is endemic.

The most likely candidates for future gene therapy trials will be rare diseases such as Lesch-Nyhan syndrome, a distressing disease in which the patients are unable to manufacture a particular enzyme. This leads to a bizarre impulse for self-mutilation, including very severe biting of the lips and fingers. The normal version of the defective gene in this disease has now been cloned.

If gene therapy does become practicable, the biggest impact would be on the treatment of diseases where the normal gene needs to be introduced into only one organ. One such disease is phenylketonuria (PKU). PKU affects about one in 12,000 white children, and if not treated early can result in severe mental retardation. The disease is caused by a defect in a gene producing a liver enzyme. If detected early enough, the child can be placed on a special diet for their first few years, but this is very unpleasant and can lead to many problems within the family.

The types of gene therapy described thus far all have one factor in common: that is, that the tissues being treated are somatic (somatic cells include all the cells of the body, excluding sperm cells and egg cells). In contrast to this is the replacement of defective genes in the germline cells (which contribute to the genetic heritage of the offspring). Gene therapy in germline cells has the potential to affect not only the individual being treated, but also his or her children as well. Germline therapy would change the genetic pool of the entire human species, and future generations would have to live with that change. In addition to these ethical problems, a number of technical difficulties would make it unlikely that germline therapy would be tried on humans in the near future.

Before treatment for a genetic disease can begin, an accurate diagnosis of the genetic defect needs to be made. It is here that biotechnology is also likely to have a great impact in the near future. Genetic engineering research has produced a powerful tool for pinpointing specific diseases rapidly and accurately. Short pieces of DNA called DNA probes can be designed to stick very specifically to certain other pieces of DNA. The technique relies upon the fact that complementary pieces of DNA stick together. DNA probes are more specific and have the potential to be more sensitive than conventional diagnostic methods, and it should be possible in the near future to distinguish between defective genes and their normal counterparts, an important development.

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Gene Therapy - An Overview - Access Excellence

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Stem Cell Therapy in Miami Florida – Stem Cell Treatment …

erectile dysfunction treatment, type 2 diabetes treatment, arthritis cure, cure for arthritis, therapy for autism, Vision loss therapy, hair loss treatment, preventing hair loss, Pumonary disease therapy, Kidney diseases

CellTherapyFlorida U.S. Program and PRP Therapy are now being applied towards painful, injured and inflammatory conditions facilitating healing of muscle, tendons, ligaments, articular and meniscal injuries.

Loss of Hair Your own stem cells from a small area of adipose (fat) tissue can be isolated and activated. Together with a PRP and growth factors from a small sample of blood, it can be locally injected into the scalp for male and female pattern hair loss treatment.

A single treatment of Stem Cells can be of a long-term benefit. Other therapies and drugs are an hours-to-days alternative!

The utilization of insulin in the conventional treatment of diabetes mellitus is only a "symptomatic" approach, and curing diabetes involves a great deal more.

Due to the fact most of the diseases that lead to loss of vision do so as a result of abnormal vasculature and/or nerve degeneration, the use of stem cells to stabilize or prevent visual loss holds great promise.

Autism is characterized by abnormalities in social interaction, impaired verbal and nonverbal communication, and repetitive, obsessive behavior.

Regenerative cellular therapy aims for the return of damaged lung(s) to a more functional state through the use of autologous adult stem cells. Promising results have been reported in patients with lung diseases receiving this type of regenerative therapy.

Chronic kidney disease means progressive loss of the kidney function that leads to end stage kidney disease (ESKD). End stage kidney disease is the complete or almost complete kidney function failure. This condition takes place when kidneys lose their ability to maintain the day to day level of function.

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Heart disease: Progress toward stem cell therapies – Video


Heart disease: Progress toward stem cell therapies
Join us for this live Google Hangout and learn about recent progress in developing stem cell therapies for heart disease. Hear from stem cell clinical trial ...

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Best Christmas ever as Gaurav gets the gift of life

It's the Christmas gift one little boys family thought they would never receive a life-saving transplant after a worldwide search for a donor.

But miraculously, two-year-old Gaurav Bains has finally had the operation he desperately needed.

His family have endured a torturous ordeal as the months counted down to a Christmas deadline to find a bone marrow donor with a 100 per cent match.

The young lad had always been ill after being born premature, but earlier this year, after a series of chest infections, he was diagnosed with Monosomy 7 Syndrome, a rare blood condition.

Then in the summer, his family was told his best chance of a healthy life would be if a donor was found before Christmas

Had a match not been found, Gauravs condition meant he would have been likely to develop an aggressive form of childhood leukaemia, which he may not have survived.

But thanks to a huge campaign, and the determination of his family, thousands of people signed up to the donation register from around the country and the world.

And this week the youngster finally had the operation that could save his life.

The whole procedure, which saw donated stem cells passed into his body, only took 90 minutes, and now his family, from Alexandra Road in Tipton, are optimistic.

Dad Sunny Bains, aged 31 and a shopkeeper, said: Everything went alright and he didnt have any side effects.

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Best Christmas ever as Gaurav gets the gift of life

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