Genetics Part 10: Replication 6 (Termination in Eukaryotes and Prokaryotes
This video describes replication termination in both Prokaryotes and Eukaryotes by Ter-Tus complex and Telomerase enzyme respectively.

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Genetics of Transgenic Salmon
Dr. Wendy Vandersteen.

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Genetics of Transgenic Salmon - Video

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PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Kathy Beal kbeal@acmg.net 301-238-4582 American College of Medical Genetics

Xiangling Wang, MD, PhD of Mayo Clinic in Rochester, MN was honored as the 2014-2015 recipient of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2014 Annual Clinical Genetics Meeting in Nashville, TN.

The objective of this award is to advance education, research and standards of practice in medical genetics; to develop and expand clinical and laboratory expertise in medical genetics in the United States; and to initiate and develop a broad-based infrastructure for industry funding of high quality projects in the fields of medical genetics. Dr. Wang will be given the opportunity to participate in an in-depth clinical and research experience at a premier medical center with expertise and significant clinical volume in the area of translational genomics.

This Award grants $75,000 per year to the recipient selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainee's clinical genetics subspecialty in translational genomics following residency.

Dr. Wang received her MD at Shandong Medical University (currently School of Medicine, Shandong University), Jinan, China, her PhD in Medicine/Nephrology at the School of Medicine, Shanghai JiaoTong University, Shanghai, China and is currently in her first year of residency in Medical Genetics at the Mayo Clinic, Rochester, MN. Her research during the award period will focus on exposure to the diagnosis and management of patients with lysosomal storage diseases (LSDs) and the training and involvement in the clinical trials including course work and research projects in collaboration with the Center of Clinical Translational Activities (CTSA) at Mayo Clinic.

"I am honored and proud to receive the Pfizer/ACMG Foundation award. I want to personally thank the Medical Genetics Residency Program at Mayo Clinic that provides me with such an excellent educational and research environment. I will work hard to achieve all the proposed goals. I believe the training under this award will make me ready for my future academic career with a research focus on lysosomal storage diseases. It is my hope that I can better serve my patients in the future and contribute to making a difference in the day-to-day lives of those who suffer with lysosomal storage diseases."

"Recent advances in genomics present great opportunities to develop new approaches to diagnosis and treatment of genetic disorders. The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars provides a wonderful opportunity to train physician scientists to be leaders in translational research in medical genomics," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

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Xiangling Wang, M.D., Ph.D. receives Pfizer/ACMG Foundation Clinical Genetics Fellowship

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PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Kathy Beal kbeal@acmg.net 301-238-4582 American College of Medical Genetics

Jun Shen, PhD was honored as the 2014 recipient of the ACMG Foundation/Signature Genomics from PerkinElmer, Inc. Travel Award at the American College of Medical Genetics and Genomics (ACMG) 2014 Annual Clinical Genetics Meeting in Nashville, TN.

Dr. Shen was selected to receive the award for her platform presentation, "Clinical Validation of a Novel Combinatorial Algorithm that Predicts Pathogenicity of Human Missense Variants with High Accuracy."

Dr. Shen completed her PhD in Neurobiology at Harvard University, and completed her Postdoctoral Fellowship in Neurobiology with a focus on the inner ear at Howard Hughes Medical Institution/Harvard Medical School. Dr. Shen received her Bachelor of Arts in Biochemistry, Molecular Biology and Computer Science at Dartmouth College. She is currently an Instructor in Pathology at Brigham and Women's Hospital and Harvard Medical School and an Assistant Laboratory Director, Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine.

The ACMG Foundation/Signature Genomics Travel Award is given to an ACMG Trainee member whose abstract submission was chosen as a platform presentation during the ACMG Annual Clinical Genetics Meeting. The ACMG Program Committee selects the Travel Award recipient based on scientific merit. In recognition of the selected presentation, Signature Genomics covers the travel costs for the recipient to the ACMG meeting.

"The Foundation for Genetic and Genomic Medicine is grateful to Signature Genomics for its continued generous support of the development of medical genetic researchers through this Travel Award," said Bruce R. Korf, MD, PhD FACMG, president of the ACMG Foundation for Genetic and Genomic Medicine.

"Signature Genomics is pleased to support the recognition of young researchers like Dr. Shen who are working in the field of genetics and genomics. This presentation is just one of the many outstanding presentations at the 2014 ACMG Annual Meeting," said Beth Torchia, PhD, FACMG, Technical Laboratory Director at Signature Genomics from PerkenElmer, Inc.

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2014 ACMG Foundation/Signature Genomic Labs, PerkinElmer Inc. Travel Award winner

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Doctored Tapes Convict Doctor?
Dr. W. French Anderson was convicted of molestation eight years ago, but the evidence that was used to convict Anderson has come into question. We discuss th...

By: TheLipTV

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PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Anne Nicholas media@sfn.org 202-962-4086 Society for Neuroscience

Delivering a single injection of a scar-busting gene therapy to the spinal cord of rats following injury promotes the survival of nerve cells and improves hind limb function within weeks, according to a study published April 2 in The Journal of Neuroscience. The findings suggest that, with more confirming research in animals and humans, gene therapy may hold the potential to one day treat people with spinal cord injuries.

The spinal cord is the main channel through which information passes between the brain and the rest of the body. Most spinal cord injuries are caused by damage to the axons, the long extensions that brain cells use to send these messages. Once these injuries take place, scar tissue forms and prevents the damaged nerves from re-growing.

Previous animal studies show that one way to promote the growth of injured spinal nerve cells is to administer the enzyme chondroitinase ABC (ChABC), which digests scar-forming proteins, to the site of injury. However, because ChABC breaks down quickly, maintaining these beneficial effects for a long period of time requires invasive and repeated administration of the enzyme to the spinal cord. To get around this hurdle, in recent years, scientists began exploring gene therapy as a method to efficiently coax spinal cord cells to produce the enzyme.

In the current study, a group of researchers led by Elizabeth Bradbury, PhD, of King's College London used a single injection to deliver the ChABC gene therapy into the spinal cord of injured adult rats. The treatment not only led the spinal cord cells to produce and secrete ChABC in large quantities over areas spanning the injury epicenter, it helped to maintain the overall health of the damaged spinal cord and restored hind limb function in the animals within 12 weeks.

"These findings provide convincing evidence that gene therapy with chondroitinase not only encourages the sprouting of injured axons, but also imparts significant protection to nerve cells," said Mark Tuszynski, MD, PhD, who studies how nerve cells recover following injury at the University of California, San Diego, and was not involved in this study. "These are new and important findings that could lead to the development of testable therapies for spinal cord injury in people," he added.

Bradbury's team delivered the ChABC gene into the matrix of the spinal cord (the space between spinal cord cells). Twelve weeks later, the animals that received the therapy had more surviving spinal nerve cells and fibers present through and around the scar compared with animals that did not receive the treatment. ChABC gene therapy also led to the recovery of hind limb function in the animals, allowing them to navigate the rungs of a horizontal ladder.

Additional analysis revealed that ChABC gene therapy changed the way that inflammatory cells in the region respond following injury. Normally, after injury, immune cells invade the spinal cord and cause destructive and irreparable tissue damage. However, ChABC gene therapy decreased the presence of these cells and increased the presence of other immune cells called M2 macrophages that help to reduce inflammation and enhance tissue repair.

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Newswise Philadelphia, April 1, 2014 Beverly L. Davidson, Ph.D., a nationally prominent expert in gene therapy, is joining The Childrens Hospital of Philadelphia (CHOP) today.

Dr. Davidson, who investigates gene therapy for neurodegenerative diseases, arrives from the Center for Gene Therapy at the University of Iowa. She served as associate director at that Center, as well as director of the Gene Therapy Vector Core, and held the Roy J. Carver Biomedical Research Chair in Internal Medicine at the University. She also was Vice Chair of the Department of Internal Medicine and was a Professor in Internal Medicine, Neurology, and Physiology & Biophysics.

She has been named to the Arthur V. Meigs Chair in Pediatrics at CHOP and will join the hospitals Department of Pathology and Laboratory Medicine. We heartily welcome Dr. Davidson to our hospital, and are excited that she has chosen to continue her groundbreaking gene therapy research here, said Robert W. Doms, M.D., Ph.D., pathologist-in-chief at The Childrens Hospital of Philadelphia. She will greatly enhance our abilities to translate important biological discoveries into pioneering treatments for deadly diseases.

In addition, Dr. Davidson will serve as the new director of the Center for Cellular and Molecular Therapeutics at CHOP. The mission of the Center is to use pioneering research in cell and gene therapy to develop novel therapeutic approaches for hitherto untreatable illnesses. The inaugural director of the Center, Katherine A. High, M.D., said, I am thrilled that we have been able to recruit one of the premier translational investigators in the U.S. to serve as the next director of the Center. I have led the Center for the last ten years, and I eagerly look forward to the innovations of the next decade, under Dr. Davidsons leadership.

Dr. Davidson has concentrated on inherited genetic diseases that attack the central nervous system, with a particular focus on childhood-onset neurodegenerative diseases such as Batten disease and similar diseases called lysosomal storage disorders. In these disorders, the lack of an enzyme impairs lysosomes, proteins that perform crucial roles in removing unwanted by-products of cellular metabolism. Toxic waste products then accumulate in the brain and cause progressively severe brain damage.

Dr. Davidson has studied the cell biology and biochemistry of these disorders, and has developed novel methods to deliver therapeutic genes to the central nervous system. Her laboratory team has succeeded in reversing neurological deficits in small and large animal models of disease, and is working to advance this approach to treating human diseases.

In addition to lysosomal storage disorders, she has studied other inherited neurological diseases such as Huntingtons disease and spino-cerebellar ataxia. In these studies, she has delivered forms of RNA to the brains of animals to silence the activity of disease-causing genes. She also is collaborating with scientists at Massachusetts General Hospital in animal studies of Alzheimers disease.

Although much of Dr. Davidsons research has centered on delivering beneficial genes to the central nervous system, the viral vectors that she has developed are applicable to other organs and tissuesfor example, in gene therapy directed to the lungs or the liver.

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PUBLIC RELEASE DATE:

1-Apr-2014

Contact: Sandy Van sandy@prpacific.com 808-526-1708 Cedars-Sinai Medical Center

LOS ANGELES (April 1, 2014) The Cedars-Sinai Regenerative Medicine Institute has received a $2.5 million grant from the Department of Defense to conduct animal studies that, if successful, could provide the basis for a clinical trial of a gene therapy product for patients with Lou Gehrig's disease, also called amyotrophic lateral sclerosis, or ALS.

The incurable disorder attacks muscle-controlling nerve cells motor neurons in the brain, brainstem and spinal cord. As the neurons die, the ability to initiate and control muscle movement is lost. Patients experience muscle weakness that steadily leads to paralysis; the disease usually is fatal within five years of diagnosis. Several genes have been identified in familial forms of ALS, but most cases are caused by a complex combination of unknown genetic and environmental factors, experts believe.

Because ALS affects a higher-than-expected percentage of military veterans, especially those returning from overseas duties, the Defense Department invests $7.5 million annually to search for causes and treatments. The Cedars-Sinai study, led by Clive Svendsen, PhD, professor and director of the Regenerative Medicine Institute at Cedars-Sinai Medical Center, and Genevive Gowing, PhD, a senior scientist in his laboratory, also will involve a research team at the University of Wisconsin, Madison and a Netherlands-based biotechnology company, uniQure, that has extensive experience in human gene therapy research and development.

The research will be conducted in laboratory rats bred to model a genetic form of ALS. If successful, it could have implications for patients with other types of the disease and could translate into a gene therapy clinical trial for this devastating disease.

It centers on a protein, GDNF, that promotes the survival of neurons. In theory, transporting GDNF into the spinal cord could protect neurons and slow disease progression, but attempts so far have failed, largely because the protein does not readily penetrate into the spinal cord. Regenerative Medicine Institute scientists previously showed that spinal transplantation of stem cells that were engineered to produce GDNF increased motor neuron survival, but this had no functional benefit because it did not prevent nerve cell deterioration at a critical site, the "neuromuscular junction" the point where nerve fibers connect with muscle fibers to stimulate muscle action.

Masatoshi Suzuki, PhD, DVM, assistant professor of comparative biosciences at the University of Wisconsin, Madison, who previously worked in the Svendsen Laboratory and remains a close collaborator, recently found that stem cells derived from human bone marrow and engineered to produce GDNF protected nerve cells, improved motor function and increased lifespan when transplanted into muscle groups of a rat model of ALS.

"It seems clear that GDNF has potent neuroprotective effects on motor neuron function when the protein is delivered at the level of the muscle, regardless of the delivery method. We think GDNF will be able to help maintain these connections in patients and thereby keep the motor neuron network functional," Suzuki said.

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$2.5 million Defense Department grant funds gene therapy study for Lou Gehrig's disease

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For a long time, people thought HIV was incurable. The main reason was that HIV is a retrovirus, meaning that it inserts its own viral DNA into the genome of its host perhaps we could treat the symptoms of HIV, but many doubted it was possible to actually correct the genes themselves.Our techniques for slicing up DNA are very advanced when that DNA sits suspended in a test solution, but nearly useless when we need to accurately edit millions of copies of a gene spread throughout a complex, living animal. Technologies aimed at addressing that problem have been the topic of intense study in recent years, and this week MIT announced that one of the most promising lines of research has achieved its first major goal: researchers have permanently cured a genetic disease in an adult animal.

This is a proof of concept for something medicine has been teasing for decades: useful, whole-body genome editing in fully developed adults. Until recently, most such manipulation was possible only during early development and many genetic diseases dont make themselves known until after birth, or even much later in life. While breakthroughs in whole-genome sequencing are bringing genetic early-warning to awhole new level for parents, there are still plenty of ways to acquire problem DNA later in life most notably, through viruses like HIV. Whether were talking about a hereditary genetic disease like Alzheimers or an acquired one like radiation damage, MITs newest breakthrough has the potential to help.

A simplified schematic of the CRISPR system. RNA guides Cas9 in cutting at the CRISPR sequences.

In this study[doi:10.1038/nbt.2884], researchers attacked a disease called hereditarytyrosinemia, which stops liver cells from being able to process the amino acid tyrosine. It is caused by a mutation in just a single base of a single gene on the mouse (and human) genome, and prior research has confirmed that fixing that mutation cures the disease. The problem is that, until now, such a correction was only possible during early development, or even before fertilization of the egg. An adult body was thought to be simply too complex a target.

The gene editing technology used here is called the CRISPR system, which refers to the Clustered Regularly Interspaced Short Palindromic Repeats that allow its action.As the name suggests, the system inserts short palindromic DNA sequences called CRISPRs that are a defining characteristic of viral DNA. Bacteria have an evolved defense that finds these CRISPRs, treating them (correctly, until now) as evidence of unwanted viral DNA. Scientists insert DNA sequences that code for this bacterial cutting enzyme, along with the healthy version of our gene of interest and some extra RNA for targeting. All scientists need do is design their sequences so CRISPRs are inserted into the genome around the diseased gene, tricking the cell into identifying it as viral from there, the cell handles the excision all on its own, replacing the newly viral gene with the studys healthy version. The whole process plays out using the cells own machinery.

This is how MIT chose to visualize the process.

The experimental material actually enters the body via injection, targeted to a specific cell type.In this study, researchers observed an initial infection rate of roughly 1 in every 250 target cells. Those healthy cells out-competed their unmodified brothers, and within a month the corrected cells made up more than a third of the target cell type. This effectively cured the disease; when the mice were taken off of previously life-saving medication, they survived with little ill effect.

There are other possible solutions to the problem of adult gene editing, but they can be much more difficult to use,less accurate and reliable, and are generally useful in a narrower array of circumstances. CRISPRs offer a very high level of fidelity in targeting, both to specific cells in the body and to very specific genetic loci within each cell.

Tyrosinemia affects only about 1 in every 100,000 people, but the science on display here is very generalizable. While many diseases will require a more nuanced approach than was used here, many will not; wholly replacing genes in adult animals is a powerful tool, capable of curing many, many diseases. Not every cell type will lend itself as well to the CRISPR system, nor every disease; particularly, this study relies on the fact that corrected cells will naturally replace disease cells, improving their initial infection rate. That wont always be possible, unfortunately.

Theres also very little standing between this technique and non-medical applications can you drug test an athlete or academic for the contents of their own genome? These questions and more will become relevant over the next few decades, though their effects should be minuscule when weighed against the positive impacts of the medical applications.

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Genetic irregularities add further confusion to acid bath stem cell studyReuters

Ground-breaking research that originally promised a huge leap in stem cell research has been dealt another blow this month after further irregularities in the authors' findings were discovered.

In January, Haruko Obokata of the Riken Centre for Developmental Biology in Japan said she hadproduced two stem cell lines from mice by washing mature cells in acid -a safer and easier way of reprogramming mature cells to an embryonic state.

At the time, researchers said the findings were hugely important for the future of stem cell therapy and its ability to fight diseases.

However, shortly after publication, the Riken centre's president, Ryoji Noyori,was forced to apologise for what he called "sloppy" work after the firstirregularities in the findings emerged.A subsequent investigation was launchedfollowing complaints of duplicated images and failed attempts to copy her findings.

According to Nature magazine,investigators have now found that the two stem cell lines came from different strains, suggesting the papers came from different mouse strains to what was claimed.

"Something is grossly wrong," says Hiromitsu Nakauchi, a University of Tokyo stem cell researcher.

Teruhiko Wakayama from Yamanashi University, who collaborated on the papers, performed genetic analysis on the stem cell lines. He told Nature that he had expected a genetic match between the stem cells and the source mice, but that this was not the case.

"This is really, really confusing... so far I do not see any proof of misconduct. Moreover, I am still not convinced that [the findings] are bogus"

Biologist Hans Scholer

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'Breakthrough' Acid Stem Cell Study: Something is Grossly Wrong

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Patients with severe ischemic heart disease and heart failure can benefit from a new treatment in which stem cells found in bone marrow are injected directly into the heart muscle, according to research presented at the American College of Cardiology's 63rd Annual Scientific Session.

"Our results show that this stem cell treatment is safe and it improves heart function when compared to placebo," said Anders Bruun Mathiasen, M.D., research fellow in the Cardiac Catherization Lab at Rigshospitalet University Hospital Copenhagen, and lead investigator of the study. "This represents an exciting development that has the potential to benefit many people who suffer from this common and deadly disease."

Ischemic heart disease, also known as coronary artery disease, is the number one cause of death for both men and women in the United States. It results from a gradual buildup of plaque in the heart's coronary arteries and can lead to chest pain, heart attack and heart failure.

The study is the largest placebo-controlled double-blind randomized trial to treat patients with chronic ischemic heart failure by injecting a type of stem cell known as mesenchymal stromal cells directly into the heart muscle.

Six months after treatment, patients who received stem cell injections had improved heart pump function compared to patients receiving a placebo. Treated patients showed an 8.2-milliliter decrease in the study's primary endpoint, end systolic volume, which indicates the lowest volume of blood in the heart during the pumping cycle and is a key measure of the heart's ability to pump effectively. The placebo group showed an increase of 6 milliliters in end systolic volume.

The study included 59 patients with chronic ischemic heart disease and severe heart failure. Each patient first underwent a procedure to extract a small amount of bone marrow. Researchers then isolated from the marrow a small number of mesenchymal stromal cells and induced the cells to self-replicate. Patients then received an injection of either saline placebo or their own cultured mesenchymal stromal cells into the heart muscle through a catheter inserted in the groin.

"Isolating and culturing the stem cells is a relatively straightforward process, and the procedure to inject the stem cells into the heart requires only local anesthesia, so it appears to be all-in-all a promising treatment for patients who have no other options," Mathiasen said.

Although there are other therapies available for patients with ischemic heart disease, these therapies do not help all patients and many patients continue to face fatigue, shortness of breath and accumulation of fluid in the lungs and legs.

Previous studies have shown mesenchymal stromal cells can stimulate repair and regeneration in a variety of tissues, including heart muscle. Mathiasen said in the case of ischemic heart failure, the treatment likely works by facilitating the growth of new blood vessels and new heart muscle.

The study also supports findings from previous, smaller studies, which showed reduced scar tissue in the hearts of patients who received the stem cell treatment, offering additional confirmation that the treatment stimulates the growth of new heart muscle cells.

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PUBLIC RELEASE DATE:

31-Mar-2014

Contact: Beth Casteel bcasteel@acc.org 202-375-6275 American College of Cardiology

WASHINGTON (March 31, 2014) Patients with severe ischemic heart disease and heart failure can benefit from a new treatment in which stem cells found in bone marrow are injected directly into the heart muscle, according to research presented at the American College of Cardiology's 63rd Annual Scientific Session.

"Our results show that this stem cell treatment is safe and it improves heart function when compared to placebo," said Anders Bruun Mathiasen, M.D., research fellow in the Cardiac Catherization Lab at Rigshospitalet University Hospital Copenhagen, and lead investigator of the study. "This represents an exciting development that has the potential to benefit many people who suffer from this common and deadly disease."

Ischemic heart disease, also known as coronary artery disease, is the number one cause of death for both men and women in the United States. It results from a gradual buildup of plaque in the heart's coronary arteries and can lead to chest pain, heart attack and heart failure.

The study is the largest placebo-controlled double-blind randomized trial to treat patients with chronic ischemic heart failure by injecting a type of stem cell known as mesenchymal stromal cells directly into the heart muscle.

Six months after treatment, patients who received stem cell injections had improved heart pump function compared to patients receiving a placebo. Treated patients showed an 8.2-milliliter decrease in the study's primary endpoint, end systolic volume, which indicates the lowest volume of blood in the heart during the pumping cycle and is a key measure of the heart's ability to pump effectively. The placebo group showed an increase of 6 milliliters in end systolic volume.

The study included 59 patients with chronic ischemic heart disease and severe heart failure. Each patient first underwent a procedure to extract a small amount of bone marrow. Researchers then isolated from the marrow a small number of mesenchymal stromal cells and induced the cells to self-replicate. Patients then received an injection of either saline placebo or their own cultured mesenchymal stromal cells into the heart muscle through a catheter inserted in the groin.

"Isolating and culturing the stem cells is a relatively straightforward process, and the procedure to inject the stem cells into the heart requires only local anesthesia, so it appears to be all-in-all a promising treatment for patients who have no other options," Mathiasen said.

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Stem Cell Therapy - 2
2 .

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Stem Cell Therapy - 2 - Video

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Stem Cell Therapy for Spinal Cord Injury: Jamie Richie discusses her improvements
Jamie Richie discussed her treatments and improvements while undergoing her third round of stem cell therapy at the Stem Cell Institute in Panama City, Panam...

By: http://www.cellmedicine.com

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Aventura Hospital and Medical Center - Stem Cell Therapy
In this video Dr. Coy discusses how he is studying stem cells in the heart. Steam Cell Therapy is an exciting technology that is now harvesting cells that ar...

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Aventura Hospital and Medical Center - Stem Cell Therapy - Video

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Heather Burke - Stem Cell Therapy for treating her Multiple Sclerosis
Heather Burke, a 26-year-old mother of two is about to embark on a medical journey that could stop her multiple sclerosis in its tracks. The disease, which a...

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Scientists at The University of Nottingham have developed a new substance which could simplify the manufacture of cell therapy in the pioneering world of regenerative medicine.

Cell therapy is an exciting and rapidly developing area of medicine in which stem cells have the potential to repair human tissue and maintain organ function in chronic disease and age-related illnesses. But a major problem with translating current successful research into actual products and treatments is how to mass-produce such a complex living material.

There are two distinct phases in the production of stem cell products; proliferation (making enough cells to form large tissue) and differentiation (turning the basic stem cells into functional cells). The material environment required for these two phases are different and up to now a single substance that does both jobs has not been available.

Now a multi-disciplinary team of researchers at Nottingham has created a new stem cell micro-environment which they have found has allowed both the self-renewal of cells and then their evolution into cardiomyocyte (heart) cells. The material is a hydrogel containing two polymers -- an alginate-rich environment which allows proliferation of cells with a simple chemical switch to render the environment collagen-rich when the cell population is large enough. This change triggers the next stage of cell growth when cells develop a specific purpose.

Professor of Advanced Drug Delivery and Tissue Engineering, Kevin Shakesheff, said:

"Our new combination of hydrogels is a first. It allows dense tissue structures to be produced from human pluripotent stem cells (HPSC) in a single step process never achieved before. The discovery has important implications for the future of manufacturing in regenerative medicine. This field of healthcare is a major priority for the UK and we are seeing increasing investment in future manufacturing processes to ensure we are ready to deliver real treatments to patients when HPSC products and treatments go to trial and become standard."

The research, "Combined hydrogels that switch human pluripotent stem cells from self-renewal to differentiation" is published in the Proceedings of the National Academy of Sciences (PNAS).

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The above story is based on materials provided by University of Nottingham. Note: Materials may be edited for content and length.

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Major breakthrough in stem cell manufacturing technology

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31.03.2014 - (idw) Rheinische Friedrich-Wilhelms-Universitt Bonn

Heart valve defects are a common cause of death in newborns. Scientists at the University of Bonn and the caesar research center have discovered "Creld1" is a key gene for the development of heart valves in mice. The researchers were able to show that a similar Creld1 gene found in humans functions via the same signaling pathway as in the mouse. This discovery is an important step forward in the molecular understanding of the pathogenesis of heart valve defects. The findings have been published in the journal "Developmental Cell". Retention period: Do not publish before Monday, March 31, 6 p.m. (CET)! Atrioventricular septal defect (AVSD) is a congenital heart defect in which the heart valves and cardiac septum are malformed. Children with Down's syndrome are particularly affected. Without surgical interventions, mortality in the first months of life is high. "Even in adults, unidentified valve defects occur in about six percent of patients with heart disease," says Prof. Dr. Michael Hoch, Executive Director of the Life & Medical Sciences (LIMES) Institute of the University of Bonn.

For years, there have been indications that changes in the so-called Creld1 gene (Cysteine-Rich with EGF-Like Domains 1) increase the pathogenic risk of AVSD. However, the exact molecular connection between the gene and the disease was previously unknown. A research team from the LIMES Institute and the caesar research center in Bonn has now shown, in a mouse model, that Creld1 plays a crucial role in heart development. Researchers at the University of Bonn switched off the Creld1 gene in mice: "We discovered that the precursor cells of the heart valves and the cardiac septum could no longer develop correctly," reports Dr. Elvira Mass from the LIMES Institute. This was an important indication that Creld1 is required at a very early stage for the development of the heart.

In embryonic development, the heart develops as the first organ

"In the embryonic stage, the heart develops as the very first organ. It pumps blood through the vascular system and is essential for supplying other organs of the body with oxygen and nutrients," reports the cooperation partner, Dr. Dagmar Wachten who directs the Minerva research group "Molecular Physiology" at the caesar research center and is engaged in research involving cardiac development. The research team discovered that the Creld1 gene controls the development of heart valves via the so-called calcineurin NFAT signaling pathway. The heart valve defects in mice lacking the Creld1 gene ultimately led to insufficient oxygen supply to the body, causing the mouse embryo to cease development after approximately eleven days.

The research team anticipates that the findings can be carried over to patients. With regard to cardiac development, mice and humans are very similar and the Creld1 gene and the calcineurin/NFAT signaling pathway likewise function analogously in both species. "Our results contribute to a better understanding of the molecular basis of heart development and, in the medium-term, to improved diagnosis of unidentified heart valve diseases," explains Prof. Hoch. Interestingly, the calcineurin/NFAT signaling pathway is not only active in the heart but also in immune cells. In transplant medicine, it has to be suppressed over the long-term by drugs such as cyclosporine A so that transplanted organs are not rejected. "Within the scope of the ImmunoSensation Excellence Cluster, we are currently investigating the mechanism of action of Creld1 in immune cells," says Prof. Hoch, who is convinced that it will also be of importance in transplant medicine in the future.

Publication: Murine Creld1 controls cardiac development through activation of calcineurin/NFATc1 signaling, Developmental Cell, DOI: 10.1016/j.devcel.2014.02.012

Contact information:

Prof. Dr. Michael Hoch Life & Medical Sciences (LIMES) Institute of the University of Bonn Tel. ++49-(0)228-7362737

Dr. Elvira Mass Life & Medical Sciences (LIMES) Institute of the University of Bonn Tel. ++49-(0)228-7362767 E-Mail: emass@uni-bonn.de

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Genetic cause of heart valve defects

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New research indicates that obesity in the general population may be genetically linked to how our bodies digest carbohydrates.

Published today in the journal Nature Genetics, the study investigated the relationship between body weight and a gene called AMY1, which is responsible for an enzyme present in our saliva known as salivary amylase. This enzyme is the first to be encountered by food when it enters the mouth, and it begins the process of starch digestion that then continues in the gut.

People usually have two copies of each gene, but in some regions of our DNA there can be variability in the number of copies a person carries, which is known as copy number variation. The number of copies of AMY1 can be highly variable between people, and it is believed that higher numbers of copies of the salivary amylase gene have evolved in response to a shift towards diets containing more starch since prehistoric times.

Researchers from Imperial College London, in collaboration with other international institutions, looked at the number of copies of the gene AMY1 present in the DNA of thousands of people from the UK, France, Sweden and Singapore. They found that people who carried a low number of copies of the salivary amylase gene were at greater risk of obesity.

The chance of being obese for people with less than four copies of the AMY1 gene was approximately eight times higher than in those with more than nine copies of this gene. The researchers estimated that with every additional copy of the salivary amylase gene there was approximately a 20 per cent decrease in the odds of becoming obese.

Professor Philippe Froguel, Chair in Genomic Medicine in the School of Public Health at Imperial College London, and one of the lead authors on the study, said: "I think this is an important discovery because it suggests that how we digest starch and how the end products from the digestion of complex carbohydrates behave in the gut could be important factors in the risk of obesity. Future research is needed to understand whether or not altering the digestion of starchy food might improve someone's ability to lose weight, or prevent a person from becoming obese. We are also interested in whether there is a link between this genetic variation and people's risk of other metabolic disorders such as diabetes, as people with a low number of copies of the salivary amylase gene may also be glucose intolerant."

Dr Mario Falchi, also from Imperial's School of Public Health and first author of the study, said: "Previous genetic studies investigating obesity have tended to identify variations in genes that act in the brain and often result in differences in appetite, whereas our finding is related to how the body physically handles digestion of carbohydrates. We are now starting to develop a clearer picture of a combination of genetic factors affecting psychological and metabolic processes that contribute to people's chances of becoming obese. This should ultimately help us to find better ways of tackling obesity."

Dr Julia El-Sayed Moustafa, another lead author from Imperial's School of Public Health, said: "Previous studies have found rare genetic variations causing extreme forms of obesity, but because they occur in only a small number of people, they explained very little of the differences in body weight we see in the population. On the other hand, research on more common genetic variations that increase risk of obesity in the general population have so far generally found only a modest effect on obesity risk. This study is novel in that it identifies a genetic variation that is both common and has a relatively large effect on the risk of obesity in the general population. The number of copies of the salivary amylase gene is highly variable between people, and so, given this finding, can potentially have a large impact on our individual risk of obesity."

The first step of the study involved the analysis of genetic data from a Swedish family sample of 481 participants, recruited on the basis of sibling-pairs where one was obese and the other non-obese. The researchers used these data to short-list genes whose copy number differences influence body mass index (BMI), and identified the gene coding for the enzyme salivary amylase (AMY1) as the one with the greatest influence on body weight in their analysis. They then investigated the relationship between the number of times the AMY1 gene was repeated on chromosome 1 in each individual and their risk of obesity, by studying approximately 5,000 subjects from France and the UK.

The researchers also expanded their study to include approximately 700 obese and normal-weight people from Singapore, and demonstrated that the same relationship between the number of copies of the AMY1 gene and the risk of obesity also existed in non-Europeans.

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Carbohydrate digestion and obesity strongly linked

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AAP Australian scientists have discovered a gene fault that causes skin cancer in some families.

Australian scientists have discovered a gene fault that causes melanoma in some families.

This could lead to improved prevention, detection and treatment, says Professor Nick Hayward of the QIMR Berghofer research institute in Queensland.

Prof Hayward is part of an international team that found people with the POT1 gene mutation are at extremely high risk of developing melanoma.

The finding adds to growing knowledge about the genetic links to melanoma and could help identify which people should have regular screening.

"Carriers could benefit from more rigorous six-monthly skin examinations," says Prof Hayward, co-author of a study published in the journal Nature Genetics.

Carriers should also be extra careful about their sun exposure to minimise their likelihood of developing melanoma.

Around 11,000 Australians a year are diagnosed with melanoma and around one in 50 has a strong family history.

It is believed the POT1 gene mutation causes a minority of these cases.

At present gene testing is done only if an individual has a strong family history of that cancer type, for example the BRCA tests for breast and ovarian cancer.

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Aussies help discover melanoma gene fault

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BRITISH SCIENTISTS CLONE DINOSAUR
Scientists at Liverpool #39;s John Moore University have successfully cloned a dinosaur, a spokesman from the university said yesterday. The dinosaur, a baby Apa...

By: nouvelles

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BRITISH SCIENTISTS CLONE DINOSAUR - Video

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GMOs What You Need To Know - Dr. Michael Hansen, PhD
Mike has been sharing his scientific expertise with Consumers Union for more than 20 years. A biologist and ecologist who did his Ph.D. in the techniques of ...

By: Matthieu Cameron

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GMOs What You Need To Know - Dr. Michael Hansen, PhD - Video

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PUBLIC RELEASE DATE:

31-Mar-2014

Contact: Kimberley Wang kimberley.wang@nus.edu.sg 65-660-11653 National University of Singapore

A team of scientists from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore and National University Cancer Institute Singapore (NCIS), and their collaborators from the Cedars-Sinai Medical Centre, UCLA School of Medicine, demonstrated that a number of novel genetic defects are able to induce oesophageal cancer.

The research group, led by Professor H. Phillip Koeffler, Senior Principal Investigator at CSI Singapore and Deputy Director of NCIS, has conducted a successful comprehensive genomic study of oesophageal squamous carcinoma, a type of very aggressive cancer prevalent in Singapore and Southeast Asia.

This novel study was first published online in the prestigious journal Nature Genetics on 30 March 2014.

In this study, the researchers comprehensively investigated a large variety of genetic lesions which arose from oesophageal squamous carcinoma. The results showed enrichment of genetic abnormalities that affect several important cellular process and pathways in human cells, which promote the development of this malignancy. The scientists also uncovered a number of novel candidate genes that may make the cancer sensitive to chemotherapy. The researchers' findings provide a molecular basis for the comprehensive understanding of the pathophysiology of oesophageal carcinoma as well as for developing novel therapies for this deadly disease. These groundbreaking results have immediate relevance for cancer researchers, as well as for clinical oncologists who currently do not have effective therapeutic agents to treat this type of cancer.

Dr Lin Dechen, Research Fellow at CSI Singapore and first author of the research paper, noted, "Our findings are very relevant to Singapore and the region because this disease is endemic to Southeast Asia. More importantly, many potential therapeutic drugs have surfaced from our analysis, with some of them already in use for treating other types of tumours. We are more than excited to test their efficacy in oesophageal cancer."

Prof Koeffler said, "Oesophageal squamous cancer is one of most common causes of cancer-related death, and is particularly prevalent in Southeast Asia. We wanted to understand this major burden on the local public health system and to help find solutions. By completely investigating all human genes at the single nucleotide level, our current findings provide an enhanced road map for the study of the molecular basis underlying this somewhat neglected malignancy."

With the discovery of these previously unrecognised genetic defects, Prof Koeffler and his team will explore the detailed molecular mechanisms in the next phase of research. In addition, the scientists will evaluate whether some of these defects can be used in the clinic to cure this disease.

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Scientists discover a number of novel genetic defects which cause oesophageal cancer

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Heart valve defects are a common cause of death in newborns. Scientists at the University of Bonn and the caesar research center have discovered "Creld1" is a key gene for the development of heart valves in mice. The researchers were able to show that a similar Creld1 gene found in humans functions via the same signaling pathway as in the mouse. This discovery is an important step forward in the molecular understanding of the pathogenesis of heart valve defects. The findings have been published in the journal "Developmental Cell."

Atrioventricular septal defect (AVSD) is a congenital heart defect in which the heart valves and cardiac septum are malformed. Children with Down's syndrome are particularly affected. Without surgical interventions, mortality in the first months of life is high. "Even in adults, unidentified valve defects occur in about six percent of patients with heart disease," says Prof. Dr. Michael Hoch, Executive Director of the Life & Medical Sciences (LIMES) Institute of the University of Bonn.

For years, there have been indications that changes in the so-called Creld1 gene (Cysteine-Rich with EGF-Like Domains 1) increase the pathogenic risk of AVSD. However, the exact molecular connection between the gene and the disease was previously unknown. A research team from the LIMES Institute and the caesar research center in Bonn has now shown, in a mouse model, that Creld1 plays a crucial role in heart development. Researchers at the University of Bonn switched off the Creld1 gene in mice: "We discovered that the precursor cells of the heart valves and the cardiac septum could no longer develop correctly," reports Dr. Elvira Mass from the LIMES Institute. This was an important indication that Creld1 is required at a very early stage for the development of the heart.

In embryonic development, the heart develops as the first organ

"In the embryonic stage, the heart develops as the very first organ. It pumps blood through the vascular system and is essential for supplying other organs of the body with oxygen and nutrients," reports the cooperation partner, Dr. Dagmar Wachten who directs the Minerva research group "Molecular Physiology" at the caesar research center and is engaged in research involving cardiac development. The research team discovered that the Creld1 gene controls the development of heart valves via the so-called calcineurin NFAT signaling pathway. The heart valve defects in mice lacking the Creld1 gene ultimately led to insufficient oxygen supply to the body, causing the mouse embryo to cease development after approximately eleven days.

Potential starting point for improving diagnostic measures

The research team anticipates that the findings can be carried over to patients. With regard to cardiac development, mice and humans are very similar and the Creld1 gene and the calcineurin/NFAT signaling pathway likewise function analogously in both species. "Our results contribute to a better understanding of the molecular basis of heart development and, in the medium-term, to improved diagnosis of unidentified heart valve diseases," explains Prof. Hoch. Interestingly, the calcineurin/NFAT signaling pathway is not only active in the heart but also in immune cells. In transplant medicine, it has to be suppressed over the long-term by drugs such as cyclosporine A so that transplanted organs are not rejected. "Within the scope of the ImmunoSensation Excellence Cluster, we are currently investigating the mechanism of action of Creld1 in immune cells," says Prof. Hoch, who is convinced that it will also be of importance in transplant medicine in the future.

Story Source:

The above story is based on materials provided by Universitt Bonn. Note: Materials may be edited for content and length.

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Genetic cause of heart valve defects revealed

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PUBLIC RELEASE DATE:

31-Mar-2014

Contact: Robin Dutcher robin.Dutcher@hitchcock.org 603-653-9056 The Geisel School of Medicine at Dartmouth

While patients diagnosed with bladder cancer usually face a favorable prognosis, many experience recurrence after treatment. Because frequent, painful screenings are needed to identify recurrences, the ablility to identify patients at high risk of recurrent cancer could help to improve quality of life for all bladder cancer patients.

A new study published in BJU International, "Genetic polymorphisms modify bladder cancer recurrence and survival in a U.S. population-based prognostic study," suggests that certain inherited DNA sequences may affect a bladder cancer patient's prognosis. These findings may help physicians identify sub-groups of high risk bladder cancer patients who should receive more frequent screenings and agressive treatment and monitoring.

"The genetic markers that we found could potentially be useful for individually tailoring surveillance and treatment of bladder cancer patients," said principal investigator Angeline S. Andrew, PhD, Assistant Professor of Community and Family Medicine and the Geisel School of Medicine at Dartmouth and a member of the Norris Cotton Cancer Center.

Andrew and her colleagues analyzed the genes of 563 patients to identify genetic variants that modified time to bladder cancer recurrence and patient survival. The investigators isolated DNA from immune cells circulating in the blood, and then examined the genes involved in major biological processes linked to cancer, including cell death, proliferation, DNA repair, hormone regulation, immune surveillance, and cellular metabolism. After diagnosis, patients were followed over time to ascertain recurrence and survival status. Patients were followed for a median of 5.4 years, and half of patients experienced at least one recurrence.

The team found that patients with a variant form of the aldehyde dehydrogenase 2 (ALDH2) gene were more likely to experience bladder cancer recurrence shortly after treatment. This gene encodes an enzyme involved in alcohol metabolism. Time to recurrence was also shorter for patients who had a variation in the vascular cellular adhesion molecule 1 (VCAM1) gene and were treated with immunotherapy. VCAM1 encodes a glycoprotein involved in the development of lymphoid tissues. Patients who had non-invasive tumors and a single variant allele in the DNA repair gene XRCC4 tended to live longer than patients who did not have the variant.

"Our present data suggest novel associations between genetic variations (SNPs) and bladder cancer recurrence that merit future investigation," said Andrew. "Prognostic variations will help us to identify sub-groups of bladder cancer patients at high risk of tumor recurrence and progression so that they can receive more personalized bladder cancer surveillance and treatment."

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Certain genetic variants may identify patients at higher risk of bladder cancer recurrence

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