Archive for March, 2015

Stem Cell Therapy Network
Stem Cell Therapy Network connects patients and providers through a global Stem Cell Therapy Network using our Patient Advocate System, Medical Tourism and Personal Injury Network. We have...

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1 Control of Pluripotency Laboratory, Department of Physiological Sciences I, Faculty of Medicine, University of Barcelona, Hospital Clinic, Casanova 143, 08036, Barcelona, Spain 2 Faculty of Medicine, University of Sydney Medical School, Division of Pediatrics and Child Health, Westmead Children's Hospital, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia 3 School of Anatomy Physiology & Human Biology and The Harry Perkins Institute for Medical Research (CCTRM), the University of Western Australia, 6 Verdun St, Nedlands WA 6009, Perth, Australia

* Author to whom correspondence should be addressed.

Received: 1 October 2014 / Accepted: 3 December 2014 / Published: 29 January 2015

Abstract: The use of adult myogenic stem cells as a cell therapy for skeletal muscle regeneration has been attempted for decades, with only moderate success. Myogenic progenitors (MP) made from induced pluripotent stem cells (iPSCs) are promising candidates for stem cell therapy to regenerate skeletal muscle since they allow allogenic transplantation, can be produced in large quantities, and, as compared to adult myoblasts, present more embryonic-like features and more proliferative capacity in vitro, which indicates a potential for more self-renewal and regenerative capacity in vivo. Different approaches have been described to make myogenic progenitors either by gene overexpression or by directed differentiation through culture conditions, and several myopathies have already been modeled using iPSC-MP. However, even though results in animal models have shown improvement from previous work with isolated adult myoblasts, major challenges regarding host response have to be addressed and clinically relevant transplantation protocols are lacking. Despite these challenges we are closer than we think to bringing iPSC-MP towards clinical use for treating human muscle disease and sporting injuries.

Roca, I.; Requena, J.; Edel, M.J.; Alvarez-Palomo, A.B. Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. J. Clin. Med. 2015, 4, 243-259.

Roca I, Requena J, Edel MJ, Alvarez-Palomo AB. Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. Journal of Clinical Medicine. 2015; 4(2):243-259.

Roca, Isart; Requena, Jordi; Edel, Michael J.; Alvarez-Palomo, Ana B. 2015. "Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy." J. Clin. Med. 4, no. 2: 243-259.

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GERMANTOWN, Md. (TheStreet) -- Neuralstem (CUR - Get Report) is providing an overly optimistic picture about its surgical stem-cell therapy for amyotrophic lateral sclerosis (ALS), the degenerative and fatal nerve disease.

Instead of disclosing the results from all 15 ALS patients enrolled in Neuralstem's phase II study of NSI-566, the company decided to only release a comparison between the patients who responded and those who didn't respond. Of course, the seven responders in the study showed more stabilization or improvements in muscle function compared with the eight patients deemed non-responders.

The scientific term for this conclusion is, "Duh."

When you work backwards and do some simple math on the muscle performance of all 15 ALS patients in the Neuralstem study, the results aren't very encouraging. Neuralstem chose to stay mum on this more customary analysis.

Neuralstem shares are down 14% to $3.21 in Thursday trading.

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Neuralstem Stock Plunges After Latest Study on ALS Drug

Mutations in the methyl CpG binding protein 2 gene (MECP2) are the cause of the devastating childhood neurological disorder Rett Syndrome. Despite intense efforts spanning several decades the precise function of MECP2 has been difficult to pin down. Research primarily funded by the Rett Syndrome Research Trust (RSRT) and the National Institutes of Neurological Disease and Stroke (NINDS), and published today in the journal Nature reveals important information that could lead to new treatment approaches. The study, led by Michael Greenberg, Ph.D., Chairman of the Department of Neurobiology at Harvard University, shows that MECP2 dampens the expression of long genes.

In the early 1990s, Adrian Bird of the University of Edinburgh discovered the MeCP2 protein and proposed that it functions as a repressor of downstream genes. Since then, much effort has been focused on identifying these genes in the hopes that they could potentially become drug development targets. However, the results from numerous labs over the past 15 years have yielded long lists of genes with very little overlap, making it difficult to come to a consensus as to how mutations in MeCP2 lead to neurological dysfunction.

Today's publication sheds new and important light on this puzzle. Researchers Harrison Gabel and Benyam Kinde of the Greenberg lab set out to analyze various gene expression datasets in search of a common theme. This led them to an intriguing finding: the genes disrupted in Rett Syndrome are exceedingly long. The median size gene is about 20,000 nucleotides long, but about 10% of genes are greater than 100,000 nucleotides in length and some extend for more than one million nucleotides. It is the genes that are longer than 100,000 nucleotides that are the most affected in Rett Syndrome.

All of our cells contain the same genes. What differentiates a liver cell from a heart cell from a brain cell are the particular genes that are either silenced or active and the degree of activation, also known as expression.

The researchers in the Greenberg lab found that across all analyzed datasets, and in studies of different mouse brain regions, in the absence of MECP2 the expression of long genes is increased. Furthermore, they found that the longer a gene was, the more it increased. While the increase in expression is modest - only about 3 to 10% - it applies to thousands of genes and therefore might have a significant impact on the function of the brain.

The scientists gathered additional data in support of the gene length hypothesis. They found that in the biological mirror image of Rett, the MECP2 Duplication Syndrome, long genes are under expressed. They next analyzed long gene expression in mice of different ages. Although pre-symptomatic mice showed detectable overexpression, the effect was more dramatic in symptomatic mice. The researchers also found that the degree of increased long gene expression correlates with disease severity: mice with more severe Rett-like symptoms displayed more overexpression. Finally they looked at gene expression in autopsied brains of individuals with Rett. Just as in the mice models they found that long genes were overexpressed.

Greenberg's lab also found that the disruption of long gene expression appears to be a distinctive signature of Rett Syndrome and related disorders. "When we analyzed gene expression data from other neurological disorders that do not have similarities to Rett Syndrome, we did not see the same effects on very long genes," said Gabel.

The data from the Greenberg lab converge to suggest that Rett Syndrome may result from a relatively subtle yet widespread overexpression of long genes with functions important for the brain while the Duplication Syndrome could be due to under expression of these same genes.

"Interestingly, we found that while all cell types in the body use short and medium length genes, there is more expression of long genes in the brain than elsewhere in the body. This fact could help explain why Rett is mostly a neurological disease," says Kinde.

Last year the labs of Mark Zylka and Ben Philpot at the University of North Carolina at Chapel Hill discovered that a class of drugs called topoisomerase inhibitors reduces the expression of long genes. This begged the question of whether these drugs could be helpful in Rett Syndrome. Indeed the Greenberg lab found that adding low doses of the drug topotecan to cultured cells lacking MeCP2 normalized levels of long genes. Testing of the drug in mouse models of Rett is now underway.

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Length matters

Stanford Course - Genetic Engineering Biotechnology
The co-evolution of genetic engineering and biotechnology in the last 30+ years has allowed for groundbreaking findings in molecular biology that have revolu...

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IMAGE:Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, March 11, 2015--Social network sites such as Facebook play an important role in maintaining relationships, including romantic relationships, whether individuals are involved in a geographically close or long-distance romantic relationship. A new study that compares the relative importance of social networks and explores the role they play in helping to maintain a close-by versus a long-distance romantic relationship is published in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Cyberpsychology, Behavior, and Social Networking website until April 11, 2015.

In the article "The Use of Social Network Sites for Relationship Maintenance in Long-Distance and Geographically-Close Romantic Relationships," coauthors Cherrie Joy Billedo, Peter Kerkhof, and Catrin Finkenauer, VU University Amsterdam and University of the Philippines, describe differences in the intensity of use and the types of uses of social network sites between the two groups studied. They report how use of social network sites allows individuals to access information about, and monitor the activities of, romantic partners, and how that can be used to gauge a partner's involvement in the relationship and loyalty, with potentially positive or detrimental effects.

"Social network sites are used more frequently by those in long-distance relationships," says Editor-in-Chief Brenda K. Wiederhold, PhD, MBA, BCB, BCN, Interactive Media Institute, San Diego, California and Virtual Reality Medical Institute, Brussels, Belgium. "As long-distance relationships become more common, and continue to succeed, it becomes increasingly valuable to understand the role that technology plays in strengthening or damaging a romantic relationship."

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About the Journal

Cyberpsychology, Behavior, and Social Networking is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that explores the psychological and social issues surrounding the Internet and interactive technologies, plus cybertherapy and rehabilitation. Complete tables of content and a sample issue may be viewed on the Cyberpsychology, Behavior, and Social Networking website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Games for Health Journal, Telemedicine and e-Health, and Journal of Child and Adolescent Psychopharmacology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Are social networks helpful or harmful in long-distance romantic relationships?

SALT LAKE CITY, March 12, 2015 /PRNewswire-USNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine and genetics professionals from around the world will be on hand to present bicycles to 19 local Salt Lake City-area children from the Shriners Hospitals for Children in Salt Lake City and Wasatch Adaptive Sports of Snowbird, Utah as part of the ACMG's 2015 Annual Clinical Genetics Meeting and Conference in the Salt Palace Convention Center, Exhibit Hall ABC, Friday, March 27 at 10:30 a.m.

The annual ACMG Foundation Day of Caring is sponsored by the ACMG Foundation for Genetic and Genomic Medicine, a prominent non-profit genetics foundation based in Bethesda, Maryland.

"It's supporters like the ACMG Foundation that help set Shriners Hospitals for Children apart, and for that we're truly grateful," said Dawn Wright, Public Relations Manager at Shriners Hospitals for Children, Salt Lake City said. "We go to great lengths to enrich our patients' lives beyond their medical care and equipment and encourage them to live life without limits."

"We would like to thank the ACMG Foundation and their supporters for providing bikes and helmets to children with special needs in our community. We strongly believe in the promotion of independence and well-being through recreation and are excited to see the dream of owning a bike become a reality for our families" said Peter Mandler, Executive Director of Wasatch Adaptive Sports, which is based out of Snowbird, Utah.

"The medical genetics community is dedicated to improving the lives of children and adults with genetic conditions," said Bruce R. Korf, MD, PhD, FACMG, President of the ACMG Foundation. "We are delighted that we can play a role in helping children with genetic conditions in the Salt Lake City area. What better way to demonstrate caring than by supporting children with a special surprise that helps them have some of the same experiences that their peers have."

The ACMG Foundation for Genetic and Genomic Medicine, whose theme is Better Health Through Genetics, supports education, research and a variety of other programs to translate genetic research into better health for all individuals.

The ACMG Foundation 2015 Day of Caring is supported by PerkinElmer, Shire, members of the American College of Medical Genetics and the ACMG Foundation for Genetic and Genomic Medicine.

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics; mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301/718-2014.

Media Alert Kathy Beal kbeal@acmg.net 301-238-4582

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Leading National Genetics Foundation to Present Adapted Bikes to Salt Lake City-area Children at Heartwarming "Day of ...

Pioneering DNA research set to offer hope to millions of people could also help secure more jobs for Newcastle, health secretary Jeremy Hunt has told the Chronicle.

Mr Hunt was in the city to meet scientists and Tyneside families who have been involved with genetic testing that has been labelled as significant as the development of the internet by Prime Minister David Cameron.

In a medical breakthrough, North East scientists taking part in an unprecedented genome sequencing project have, for the first time in the UK, diagnosed rare diseases in two families after mapping their genes.

The technique, developed at Newcastle University, uses an individuals genetic blueprint to enable doctors to personalise medical care.

It means the Tyneside patients involved can now receive specialised treatment for their conditions, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty.

Mr Hunt was introduced to the families taking part in the 100,000 Genomes Project at the Institute of Genetic Medicine at Newcastle University.

He said: This is historic, a huge amount of hard work into this. Its a very proud day for Newcastle and a very proud day for the NHS.

If you said in 1990 that the world was going to change because of this thing called the internet, people would have looked at you sceptically. David Cameron believes that genetic research is going to have that kind of impact on humanity.

The fact that Newcastle is at the centre of this genetic breakthrough adds to the sense of buzz here and hopefully will secure more jobs.

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Health secretary praises Newcastle scientists for 'historic' DNA breakthrough

IMAGE:Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine, is an authoritative, peer-reviewed, multidisciplinary journal published 10 times per year in print and online. The Journal publishes original... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, March 12, 2015-- After giving birth, a woman's estrogen levels drop to lower than usual levels, and while they return to the normal range relatively quickly among women who are not breastfeeding, this hypoestrogenic state may continue in lactating women and cause menopause-like symptoms. The results of a new study comparing vaginal dryness, hot flashes, and mood changes in women who are or are not breastfeeding 3 and 6 weeks after giving birth are reported in Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine published by Mary Ann Liebert, Inc., publishers. The article is available free on the Breastfeeding Medicine website until April 12, 2015.

The article "Application of the Estrogen Threshold Hypothesis to the Physiologic Hypoestrogenemia of Lactation" provides evidence of the impact of breastfeeding on symptoms related to low estrogen levels during the postpartum period. Whereas lactating women showed no differences in the prevalence of hot flashes than non-breastfeeding women, they were significantly more likely to have vaginal dryness, report coauthors Sanjay Agarwal, MD, (University of California, San Diego School of Medicine), Julie Kim, MD (Cedars-Sinai Medical Center, Los Angeles, CA), Lisa Korst, MD, PhD (Childbirth Research Associates, North Hollywood, CA), and Claude Hughes, MD, PhD (Quintiles, Inc., Morrisville, NC).

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"The changes in vaginal lubrication secondary to low estrogen levels that can affect breastfeeding mothers may lead to discomfort on sexual intercourse," says Arthur I. Eidelman, MD, Editor-in-Chief of Breastfeeding Medicine. "Physicians should be aware of this problem, which may too often be minimized, and provide appropriate treatment, such as vaginal estrogen cream."

About the Journal

Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine, is an authoritative, peer-reviewed, multidisciplinary journal published 10 times per year in print and online. The Journal publishes original scientific papers, reviews, and case studies on a broad spectrum of topics in lactation medicine. It presents evidence-based research advances and explores the immediate and long-term outcomes of breastfeeding, including the epidemiologic, physiologic, and psychological benefits of breastfeeding. Tables of content and a sample issue may be viewed on the Breastfeeding Medicine website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Journal of Women's Health, Childhood Obesity, and Pediatric Allergy, Immunology, and Pulmonology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN) was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Can breastfeeding women have menopause-like symptoms?

Sin city genetics
Getting ready to go into a three gallon pot.

By: (RMC)rockymountaincultivators

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Sin city genetics - Video

SizeGenetics Review - Does Size Genetics Work?
http://www.sizegeneticspeniextender.com/ -- Click Link To Left For Full SizeGenetics Review! SizeGenetics Review - Does Size Genetics Work?

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SizeGenetics Review - Does Size Genetics Work? - Video

In a study published in The Lancet on March 10, researchers from Brigham and Women's Hospital (BWH) report that patients with a genetic sensitivity to warfarin -- the most widely used anticoagulant for preventing blood clots -- have higher rates of bleeding during the first several months of treatment and benefited from treatment with a different anticoagulant drug. The analyses from the TIMI Study Group, suggest that using genetics to identify patients who are most at risk of bleeding, and tailoring treatment accordingly, could offer important safety benefits, particularly in the first 90 days of treatment.

"We were able to look at patients from around the world who were being treated with warfarin and found that certain genetic variants make a difference for an individual's risk for bleeding," said Jessica L. Mega, MD, MPH, a cardiologist at BWH, senior investigator in the TIMI Study Group and lead author of the paper. "For these patients who are sensitive or highly sensitive responders based on genetics, we observed a higher risk of bleeding in the first several months with warfarin, and consequently, a big reduction in bleeding when treated with the drug edoxaban instead of warfarin."

Warfarin has been in clinical use for 60 years and genetics has been thought to influence an individual's sensitivity to the drug. The FDA label for warfarin notes that genetic variants in two genes -- CYP2C9 and VKORC1 -- can assist in determining the right warfarin dosage for an individual. But a conclusive link between variation in these two genes and bleeding has been debated. By leveraging data from their ENGAGE AF-TIMI 48 trial -- an international, randomized, double-blind trial in which patients with atrial fibrillation received either a higher dose of edoxaban, a lower dose of edoxaban or warfarin to prevent blood clots from forming in the heart and leading to stroke -- the TIMI investigators were able to observe important connections between genetic differences and patient outcomes. The trial represents the largest study of this kind to date and included nearly three years of follow-up with participants.

In ENGAGE-TIMI 48, patients were randomly assigned treatment and followed over time. The research team divided 14,000 study participants into three categories based on genetic makeup: normal responders, sensitive responders or highly sensitive responders. During the first 90 days, sensitive and highly sensitive responders who received warfarin experienced significantly higher rates of bleeding compared to normal responders. As a result, during this early time period, edoxaban was more effective than warfarin at reducing bleeding in sensitive and highly sensitive responders.

"These findings demonstrate the power of genetics in personalizing medicine and tailoring specific therapies for our patients," said Marc S. Sabatine, MD, MPH, a cardiologist at BWH, Chairman of the TIMI Study Group and senior author of the paper.

Warfarin remains the most common anticoagulant in part due to economics and availability, but several novel oral anticoagulants (NOACs), including dabigatran, rivaroxaban and apixaban, have entered the market. Edoxaban, a Xa inhibitor, received FDA approval for stroke prevention in atrial fibrillation earlier this year based on the results of the ENGAGE AF-TIMI 48 trial.

Story Source:

The above story is based on materials provided by Brigham and Women's Hospital. Note: Materials may be edited for content and length.

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Conclusive link between genetics, clinical response to warfarin uncovered

A multi-year, ongoing study suggests that a new kind of gene therapy for hemophilia B could be safe and effective for human patients. Published in the journal Science Translational Medicine, the research showed that a reprogrammed retrovirus could successfully transfer new factor IX (clotting) genes into animals with hemophilia B to dramatically decrease spontaneous bleeding. Thus far, the new therapy has proven safe.

"The result was stunning," said Timothy Nichols, MD, director of the Francis Owen Blood Research Laboratory at the University of North Carolina School of Medicine and co-senior author of the paper. "Just a small amount of new factor IX necessary for proper clotting produced a major reduction in bleeding events. It was extraordinarily powerful."

The idea behind gene therapy is that doctors could give hemophilia patients a one-time dose of new clotting genes instead of a lifetime of multiple injections of recombinant factor IX that until very recently had to be given several times a week. A new FDA-approved hemophilia treatment lasts longer than a few days but patients still require injections at least once or twice a month indefinitely.

This new gene therapy approach, like other gene therapy approaches, would involve a single injection and could potentially save money while providing a long-term solution to a life-long condition. A major potential advantage of this new gene therapy approach is that it uses lentiviral vectors, to which most people do not have antibodies that would reject the vectors and make the therapy less effective.

In human clinical studies, approximately 40 percent of the potential participants screened for a different kind of viral vector -- called adeno-associated viral vectors -- have antibodies that preclude them from entering AAV trials for hemophilia gene therapy treatment. This means that more people could potentially benefit from the lentivirus gene therapy approach.

Hemophilia is a bleeding disorder in which people lack a clotting factor, which means they bleed much more easily than people without the disease. Often, people with hemophilia bleed spontaneously into joints, which can be extremely painful and crippling. Spontaneous bleeds into soft tissues are also common and can be fatal if not treated promptly. Hemophilia A affects about one in 5,000 male births. These patients do not produce enough factor VIII in the liver. This leads to an inability to clot. Hemophilia B affects about one in 35,000 births; these patients lack factor IX.

This new method was spearheaded by Luigi Naldini, PhD, director of the San Raffaele Telethon Institute for Gene Therapy and co-senior author on the Science Translational Medicine paper.

For this study, Naldini and Nichols developed a way to use a lentivirus, which is a large retrovirus, to deliver factor IX genes to the livers of three dogs that have naturally occurring hemophilia. The researchers removed the genes involved in viral replication. "Essentially, this molecular engineering rendered the virus inert," Nichols said. "It had the ability to get into the body but not cause disease." This process turned the virus into a vector -- simply a vehicle to carry genetic cargo.

Unlike some other viral vectors that have been used for gene therapy experiments, the lentiviral vector is so large that it can carry a lot of payload -- namely, the factor IX genes that people with hemophilia B lack. (This approach could also be used for hemophilia A where the FVIII gene is considerably larger.)

These viral vectors were then injected directly into the liver or intravenously. After more than three years, the three dogs in the study experienced zero or one serious bleeding event each year. Before the therapy, the dogs experienced an average of five spontaneous bleeding events that required clinical treatment. Importantly, the researchers detected no harmful effects.

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New gene therapy for hemophilia shows potential as safe treatment

Using mutant protein, CHOP hematologist safely removes unwanted antibodies, reverses hemophilia in dog model of bleeding disease

Using gene therapy to produce a mutant human protein with unusually high blood-clotting power, scientists have successfully treated dogs with the bleeding disorder hemophilia, without triggering an unwanted immune response. In addition, the "turbocharged" clotting factor protein eliminated pre-existing antibodies that often weaken conventional treatments for people with hemophilia.

"Our findings may provide a new approach to gene therapy for hemophilia and perhaps other genetic diseases that have similar complications from inhibiting antibodies," said the study leader, Valder R. Arruda, M.D., Ph.D., a hematology researcher at The Children's Hospital of Philadelphia (CHOP).

Arruda and colleagues published their animal study results in the print edition of Blood on March 5.

Hemophilia is an inherited bleeding disorder that famously affected European royal families descended from Queen Victoria. Most commonly occurring in two types, hemophilia A and hemophilia B, the disease impairs the blood's ability to clot, sometimes fatally. When not fatal, severe hemophilia causes painful, often disabling internal bleeding and joint damage.

Doctors treat hemophilia with frequent intravenous infusions of blood clotting proteins called clotting factors, but these treatments are expensive and time-consuming. Moreover, some patients develop inhibiting antibodies that negate the effectiveness of the infusions.

For more than two decades, many research teams, including at CHOP, have investigated gene therapy strategies that deliver DNA sequences carrying genetic code to produce clotting factor in patients. However, this approach has been frustrated by the body's immune response against vectors--the non-disease-causing viruses used to carry the DNA. Those responses, which defeated initial benefits seen in experimental human gene therapy, were dose-dependent: higher amounts of vectors caused more powerful immune responses.

Arruda and colleagues therefore investigated gene therapy that used lower dosages of vector (adeno-associated viral-8 vector, or AAV-8 vector) to produce a more potent clotting factor--a variant protein called FIX-Padua.

Arruda was part of a scientific team in 2009 that discovered FIX-Padua in a young Italian man who had thrombosis, excessive clotting that can dangerously obstruct blood vessels. A mutation produced the mutant clotting factor, called FIX-Padua, named after the patient's city of residence. This was the first mutation in the factor IX gene found to cause thrombosis. All previously discovered FIX mutations lead to hemophilia, the opposite of thrombosis.

FIX-Padua is hyperfunctional--it clots blood 8 to 12 times more strongly than normal, wild-type factor IX. In the current study, the researchers thus needed to strike a balance--to relieve severe hemophilia in dogs, by using a dose strong enough to allow clotting, but not enough to cause thrombosis or stimulate immune reactions. "Our ultimate goal is to translate this approach to humans," said Arruda, "by adapting this variant protein found in one patient to benefit other patients with the opposite disease."

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Study bolsters 'turbocharged' protein as a promising tool in hemophilia gene therapy

5 through 7 spinal cord injury
Kendall first Walmart trip 5 months post injury.

By: Christie Embry Martin

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5 through 7 spinal cord injury - Video

Lindsey Caldwell

Heart disease is the leading cause of death among Americans. Recently the bio-tech industry has been exploding with cardiac research like last week's heart attack preventing nanobots. New research by the team at the University of California, Berkley has created working human heart cells on a tiny chip designed to test the efficacy of new drugs in clinical trials. This heart-on-a-chip is officially known as a cardiac microphysiological system, or MPS. Using this heart-on-a-chip, scientists can measure the potential cardiac damage of a drug before it reaches expensive human trials.

Drug trials can take years, and to mitigate risk these drugs undergo testing in non-human subjects. Animals are often used in place of humans, but animal models can be problematic. Specifically, they are less effective at predicting cardiotoxicity, wherein a drug damages the heart. This is important because one-third of drugs withdrawn from testing are pulled due to cardiotoxic effects.

Drugs that are first tested in animal models can succeed to future testing stages without setting off alarms. After successful early stages more time and money is invested and the drugs progress to human trials, only to be stopped in their tracks because they are found to be toxic to human hearts.

The cells on this tiny MPS chip are human heart cells that were created from pluripotent stem cells. These cells react to drugs the same way as a human heart inside a living person. By creating a portable, low-risk, and accurate drug testing environment, scientists may be able to advance clinical trials of new drugs and bring them to market sooner.

Here is a video by the UC Berkley research team of their heart cells actually beating.

Source: Berkeley

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Heart-on-a-chip tests drugs cardiotoxicity with its real heartbeat

Durham, NC (PRWEB) March 11, 2015

Scientists report in the current issue of STEM CELLS Translational Medicine that they have been able to clone a line of defective stem cells behind a rare, but devastating disease called Fanconi Anemia (FA). Their achievement opens the door to drug screening and the potential for a new, safe treatment for this often fatal disease.

FA is a hereditary blood disorder that leads to bone marrow failure (FA-BMF) and cancer. Patients who suffer from FA have a life expectancy of 33 years. Currently, a bone marrow transplant offers the only possibility for a cure. However, this treatment has many risks associated with it, especially for FA patients due to their extreme sensitivity to radiation and chemotherapy.

Although various consequences in hematopoietic stem cells (the cells that give rise to all the other blood cells) have been attributed to FA-BMF, its cause is still unknown, said Megumu K. Saito, M.D., Ph.D., of Kyoto Universitys Center for iPS Cell and Application, and a lead investigator on the study. His laboratory specializes in studying the kinds of pediatric diseases in which a thorough analysis using mouse models or cultured cell lines is not feasible, so they apply disease-specific induced pluripotent stem cells (iPSCs) instead.

To address the FA issue, he explained, our team (including colleagues from Tokai University School of Medicine) established iPSCs from two FA patients who have the FANCA gene mutation that is typical in FA. We were then able to obtain fetal type immature blood cells from these iPSCs.

When observing the iPSCs, the researchers found that the characteristics of immature blood cells from FA-iPSCs were different from control cells. The FA-iPSCs showed an increased DNA double-strand break rate, as well as a sharp reduction of hematopoietic stem cells compared to the control group of non-FA iPSCs.

These data indicate that the hematopoietic consequences in FA patients originate from the earliest hematopoietic stage and highlight the potential usefulness of iPSC technology for explaining how FA-BMF occurs, said Dr. Saito. Since conducting a comprehensive analysis of patient-derived affected stem cells is not feasible without iPSC technology, the technology provides an unprecedented opportunity to gain further insight into this disease.

This work shows promise for identifying the initial pathological event that causes the disease, which would be a first step in working toward a cure, said Anthony Atala, M.D., Editor-in-Chief of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine.

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The full article, Pluripotent cell models of Fanconi anemia identify the early pathological defect in human hemoangiogenic progenitors, can be accessed at http://www.stemcellstm.com.

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Stem Cell Clones Could Yield New Drug Treatment for Deadly Blood Disease

March 10, 2015

These are human blood cells grown in the lab from genetically edited stem cells. (Credit: Ying Wang/Johns Hopkins Medicine)

Provided by Shawna Williams, Johns Hopkins Medicine

Researchers at Johns Hopkins have successfully corrected a genetic error in stem cells from patients with sickle cell disease, and then used those cells to grow mature red blood cells, they report. The study represents an important step toward more effectively treating certain patients with sickle cell disease who need frequent blood transfusions and currently have few options.

The results appear in an upcoming issue of the journalStem Cells.

In sickle cell disease, a genetic variant causes patients blood cells to take on a crescent, or sickle, shape, rather than the typical round shape. The crescent-shaped cells are sticky and can block blood flow through vessels, often causing great pain and fatigue. Getting a transplant of blood-making bone marrow can potentially cure the disease. But for patients who either cannot tolerate the transplant procedure, or whose transplants fail, the best option may be to receive regular blood transfusions from healthy donors with matched blood types.

[STORY: New injection helps stem traumatic blood loss]

The problem, says Linzhao Cheng, Ph.D. , the Edythe Harris Lucas and Clara Lucas Lynn Professor of Hematology and a member of the Institute for Cell Engineering, is that over time, patients bodies often begin to mount an immune response against the foreign blood. Their bodies quickly kill off the blood cells, so they have to get transfusions more and more frequently, he says.

A solution, Cheng and his colleagues thought, could be to grow blood cells in the lab that were matched to each patients own genetic material and thus could evade the immune system. His research group had already devised a way to use stem cells to make human blood cells. The problem for patients with sickle cell disease is that lab-grown stem cells with their genetic material would have the sickle cell defect.

To solve that problem, the researchers started with patients blood cells and reprogrammed them into so-called induced pluripotent stem cells, which can make any other cell in the body and grow indefinitely in the laboratory. They then used a relatively new genetic editing technique called CRISPR to snip out the sickle cell gene variant and replace it with the healthy version of the gene. The final step was to coax the stem cells to grow into mature blood cells. The edited stem cells generated blood cells just as efficiently as stem cells that hadnt been subjected to CRISPR, the researchers found.

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Building custom blood cells to battle sickle cell disease

Two landmark studies link the 3-D arrangement of the genome to the variability and control of its expression

February 18, 2015, New York, NY - Two international teams of researchers led by Ludwig San Diego's Bing Ren have published in the current issue of Nature two papers that analyze in unprecedented detail the variability and regulation of gene expression across the entire human genome, and their correspondence with the physical structure of chromosomes.

"We expect that our findings, which describe the interplay of chromosomal structure, regulation and gene expression across a broad array of tissues, will inform research in every branch of mammalian biology and provide information of great value to the study of most human diseases, not least cancer," said Ren.

If the human genome is a recipe book, its chapters are 23 distinct chromosomes--each of which is stuffed, in rough duplicate, into the nucleus of almost all the cells of the human body. But how exactly is that single recipe book read appropriately to build the body's diverse constituency of cells? Or, for that matter, to generate a community of humans so variegated in their appearance, internal biochemistry and susceptibility to disease?

The two papers address key elements of these riddles. One captures the extent to which the same genes--known as alleles--inherited from each parent are expressed at different levels across the genome, so that each version of the gene generates different amounts of the protein it encodes. It links that difference in expression to the distribution and sequence of "enhancers" on each copy of each chromosome. Enhancers are stretches of DNA that do not encode proteins but can boost gene expression from great distances along the linear strand of DNA.

"This is the first time that anyone has looked globally at how gene expression differs between each matching pair of chromosomes across a diverse set of cell types, and our findings are striking," said Ren. "Some 30 percent of the gene set we carry is expressed variably across some 20 types of tissues, depending on which parent the alleles came from. Much of that variation appears to come from differences in sequences that regulate the transcription--or reading--of genes."

The other study examines how the three dimensional structure of chromosomes and the distribution of biochemical (or epigenetic) tags that regulate gene expression differ between different types of cells. It also integrates data from the former paper into this analysis to reveal how all of these phenomena interact to control the appropriate expression of the genome. Taken together, these findings add dimension and depth to our understanding of the physical and functional dynamics of the genome, and how its expression is globally regulated to generate the sublime complexity of the human body.

Both studies are invaluable to a deeper understanding of normal biology as well as disease. The data will, for example, help explain precisely why particular parental traits are often so unevenly expressed and why specific deleterious mutations vary in their effects from person to person. They will also serve as a reference that researchers can use to develop a more sophisticated understanding of how gene regulation and chromosomal structure are altered in diseases such as cancer.

Stemming from five years of research, the papers are two of six published this week in Nature that capture the key discoveries of the $300 million Roadmap Epigenomics Program of the US National Institutes of Health. Ren led one of four reference epigenome mapping centers for the program, and his center focused primarily on how DNA and chromatin--the complex of DNA and its protein packaging that makes chromosomes--are chemically tagged at specific places to control the expression of genes across the human genome.

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Deconstructing the dynamic genome

First ever genome-wide association study on common, incurable skin condition pinpoints 2 genetic variants associated with rosacea

MOUNTAIN VIEW, Calif., March 10, 2015 -- Today marked the publication of the first ever genome-wide association study of rosacea, a common and incurable skin disorder. Led by Dr. Anne Lynn S. Chang of Stanford University's School of Medicine, and co-authored by 23andMe, the study is the first to identify genetic factors for this condition.

Rosacea (pronounced roh-ZAY-sha) is estimated to affect more than 16 million people in the United States alone1. Symptoms typically include redness, visible blood vessels, and pimple-like sores on the skin of the central face, and many experience stinging, burning, or increased sensitivity over the affected skin. Because rosacea affects facial appearance, it can also have a psychological impact on those who suffer from it. In surveys by the National Rosacea Society, more than 76 percent of rosacea patients said their condition had lowered their self-confidence and self-esteem.

To help better understand the genetics of rosacea, researchers at Stanford University and 23andMe studied the data of more than 46,000 23andMe customers* consented for research. The study, published in the Journal of Investigative Dermatology, found two genetic variants strongly associated with the disease among people of European ancestry.

Further, the study uncovered that the genetic variants, or single nucleotide polymorphisms (SNPs), found to be strongly associated with rosacea are in or near the HLA-DRA and BTNL2 genes, which are associated with other diseases, including diabetes and celiac disease.

The genome-wide association study was broken into two parts: discovery and validation. First, data voluntarily submitted by 22,000 23andMe customers was examined. More than 2,600 customers reported having received a rosacea diagnosis from a physician. The remainder of the study participants did not have the condition and were treated as controls. To validate findings from this initial group, 23andMe researchers then tested the identified SNPs with a separate group of 29,000 consented 23andMe customers (3,000 rosacea patients, 26,000 controls). The researchers were able to confirm the same association with rosacea.

"This is another example of how 23andMe can help in researching common yet poorly understood diseases," said Joyce Tung, Ph.D., 23andMe's director of research and a co-author of the paper. "The study also speaks to the power of large data sets in studying and identifying genetic associations."

In addition to the genome-wide association study, the research included obtaining skin biopsies from six individuals with rosacea and showed that both HLA-DRA and BTNL2 proteins can be found in the skin of people with rosacea. This preliminary work hints toward the biological relevance of HLA-DRA and BTNL2 in rosacea.

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Full paper citation and availability: Assessment of the Genetic Basis of Rosacea by Genome-Wide Association Study

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Researchers from Stanford University and 23andMe discover genetic links to rosacea

Lipitor and other statin drugs are commonly prescribed to lower cholesterol. Paul J. Richards/AFP/Getty Images hide caption

Lipitor and other statin drugs are commonly prescribed to lower cholesterol.

Millions of people take statins to lower their cholesterol and reduce the risk of cardiovascular disease. But taking statins does slightly up the risk of Type 2 diabetes. Figuring out whether that means "No statins for you" isn't always easy, despite a proliferation of guidelines intended to help.

Here's in interesting wrinkle: If you've got a hereditary form of high cholesterol you're much less likely to get Type 2 diabetes, according to a study published Tuesday in JAMA, the journal of the American Medical Association.

That's good news for those people, who often have high levels of LDL cholesterol starting in childhood and face a high risk of heart disease and stroke. And it offers intriguing hints as to a possible link between cholesterol receptors in the body and Type 2 diabetes.

To find that out, researchers in the Netherlands delved into an amazing database that has tracked people for familial hypercholesterolemia since 1994. The large number of people tested 63,320 made it possible to not only identify people with genetic mutations that caused the high cholesterol, but to show how it runs in families.

The people with familial hypercholesterolemia had a 51 percent lower risk of Type 2 diabetes than their relatives without the disorder. But the diabetes risk for both groups was low: 1.75 percent versus 2.93 percent. It varied based on the particular genetic mutation involved. That difference makes for a nifty demonstration on how genes affect risk, and confirms a link that doctors who treat patients with the disorder have long observed.

And it also may explain why taking statins boosts the risk of Type 2 diabetes in some people.

One theory on how statins work is that they encourage cells to hoover up the bad LDL cholesterol by turning on LDL receptors. That's good for lowering cholesterol levels in the blood, but the study authors said it may also end up damaging the pancreas, which has lots of LDL receptors and controls blood sugar.

"They're speculating that this LDL receptor may be important in some way in determining the risk of diabetes in a statin," says David Preiss, a metabolic physician at the Glasgow Cardiovascular Research Center at the University of Glasgow who wrote an editorial accompanying the JAMA study. "The data they show is quite strongly supportive of that."

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Genetic Disorder May Reveal How Statins Boost Diabetes Risk

Personalized Medicine-Risk Assessment with Final Revisions for Final Review - TEMP Link

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Personalized Medicine-Risk Assessment with Final Revisions for Final Review - TEMP Link - Video

Scientist: Personalized Medicine -Susan Baxter Career Girls Role Model
Susan Baxter, scientist and executive director of CSU Program for Education and Research in Biotechnology, shares valuable career guidance and life advice with girls. Learn how to become a...

By: careergirls

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Scientist: Personalized Medicine -Susan Baxter Career Girls Role Model - Video

WALKASSIST FOR A SPINAL CORD INJURY PATIENT
WALKASSIST WITH A PULLEY FOR WEIGHT SUSPENSION OF PATIENTS WITH NEURO AND SPINAL CORD INJURY.

By: Mihir Apte

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New Science of Anti Aging and Regenerative Medicine Robert Goldman, MD, PhD, FAASP, DO, FAOASM
Highlights from a presentation given by Robert Goldman, MD, PhD, FAASP, DO, FAOASM at the 2007 Anti-Aging London Conference talking about "New Science of Anti-Aging and Regenerative ...

By: Gary Geberle Claire Williams

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New Science of Anti Aging and Regenerative Medicine Robert Goldman, MD, PhD, FAASP, DO, FAOASM - Video