Public release date: 3-Jul-2013 [ | E-mail | Share ]

Contact: Nicole Rura rura@wi.mit.edu 617-258-6851 Whitehead Institute for Biomedical Research

CAMBRIDGE, Mass. (July 3, 2013) Whitehead Institute researchers have determined that the transcription factor Nanog, which plays a critical role in the self-renewal of embryonic stem cells, is expressed in a manner similar to other pluripotency markers. This finding contradicts the field's presumptions about this important gene and its role in the differentiation of embryonic stem cells.

A large body of research has reported that Nanog is allelically regulatedthat is, only one copy of the gene is expressed at any given timeand fluctuations in its expression are responsible for the differences seen in individual embryonic stem (ES) cells' predilection to differentiate into more specialized cells. These studies relied on cells that had a genetic marker or reporter inserted in the DNA upstream of the Nanog gene. This latest research, published in this week's edition of the journal Cell Stem Cell, suggests that results from studies based on this approach could be called into question.

To quantify the variations in Nanog expression, Dina Faddah, a graduate student in the lab of Whitehead Institute Founding Member Rudolf Jaenisch, looked at hundreds of individual mouse ES cells with reporters inserted immediately downstream of the Nanog gene. One Nanog allele had a green reporter, while the other had a red reporter, allowing Faddah to determine which of the two alleles was being expressed.

After analyzing the results and comparing them to the expression of a "housekeeping" gene and other pluripotency factors, Faddah concluded that, regardless of the cells' growing environment, most ES cells express both Nanog alleles and the variability of this expression corresponds to that of the other genes.

When Faddah tested the established method of inserting a reporter upstream of Nanog, her results reflected the earlier studies' conclusions. However, when she checked the results with other forms of gene expression analysis, she found that the method was not a faithful indicator of Nanog's expression.

"The way the reporter was inserted into the DNA seems to disrupt the regulation of the alleles, so that when the reporter says Nanog isn't being expressed, it actually is," says Faddah.

For Jaenisch, this is an instructional tale that should be heeded by all geneticists.

"Clearly, the conclusions for this particular gene need to be reconsidered," says Jaenisch, who is also a professor of biology at MIT. "And it raises the question for other genes. For some genes, there might be similar issues. For other genes, they might be more resistant to this type of disturbances caused by a reporter."

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Study challenges long-held assumption of gene expression in embryonic stem cells

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Tribune-Herald

Actress Roseanne Barr criticized genetic engineering before the Hawaii County Council on Tuesday.

Barr, who owns a farm in Hamakua, spoke in favor of a bill to limit the use of genetically modified crops on the Big Island, saying people need to listen to independent research on the biotech industry.

When science is applied and scientific analysis is applied, a correct answer is harvested, and thats what needs to happen, she said.

Barr also addressed papaya farmers, many of whom grow virus-resistant transgenic varieties.

You know, the Hawaiians, everybody here is very giving and they would probably bend over backwards and help you burn those papayas and grow something decent, she said.

Several papaya growers spoke against the bill, referring to it as a threat to their livelihood.

The star of the 1990s sitcom, Roseanne, also filmed a reality television show about life on her 40-acre macadamia nut and livestock farm.

Titled Roseannes Nuts, the show ran for one season in 2011 on the Lifetime network.

Barr ventured into politics last year, seeking the 2012 presidential nomination for the Green Party.

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Actress speaks out against GMO on island

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Eric Lander on Recent, and Surprising, Advances in Genetic Medicine
Eric Lander, Professor of Biology at the Massachusetts Institute of Technology, at the 2013 Aspen Ideas Festival.

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Public release date: 3-Jul-2013 [ | E-mail | Share ]

Contact: Sue McGreevey smcgreevey@partners.org 617-724-2764 Massachusetts General Hospital

An international research team has used a novel approach to identify genetic factors that appear to influence susceptibility to cholera. The findings by investigators from Massachusetts General Hospital (MGH), the Broad Institute and the International Center for Diarrhal Disease Research, Bangladesh (ICDDR,B) indicate the importance of pathways involved in regulating water loss in intestinal cells and of the innate immune system in the body's response to the bacteria that causes cholera, which affects from 3 to 5 million people each year and causes more than 100,000 deaths.

"We sought to understand cholera by studying the genetics of a population that has been affected by the disease for centuries people in the Ganges River Delta of Bangladesh," says Regina LaRocque, MD, of the MGH division of Infectious Diseases, a co-senior author of the report receiving online publication in Science Translational Medicine. "Our findings are just a first step, but they demonstrate how combining ancient history with the current impact of an infectious disease can be a powerful way of identifying human genes that are important to disease outcome."

Cholera is contracted by consuming water or food contaminated with the bacteria Vibrio cholerae, which releases a toxic protein upon reaching the small intestine. This toxin binds to the intestinal surface, causing severe diarrhea and potentially death from dehydration. Cholera or a cholera-like illness has been reported in the Ganges Delta for centuries, and most recent global outbreaks of the disease originated in that region. A potential fingerprint of cholera's genetic impact could be the relative rarity in the region of blood type O, which also confers an increased risk of severe cholera symptoms. The persistence of cholera in the Ganges Delta would be expected to exert an evolutionary force on the population, since individuals with gene variants that reduce their susceptibility to the disease would be more likely to survive and pass those variants along to their children.

To search for genomic regions that affect cholera susceptibility, the team employed a new two-step approach. The first step used a method called Composite of Multiple Signals (CMS) developed by the Broad team led by co-senior author Pardis Sabeti, MD, DPhil to scan the genomes of 126 individuals from the Ganges Delta for patterns that signal a long-term increase in the prevalence of particular DNA segments, indicating the effects of natural selection. That scan identified 305 regions under selective pressure, many of which are involved in two important biologic functions: regulation of the passage of water through intestinal cells via structures called potassium channels and a signaling pathway involved in both the innate immune system and the maintenance of the intestinal lining.

The second step directly tested the potential impact of these selected regions on cholera susceptibility by comparing the genomes of 105 cholera patients from the region with those of 167 individuals who did not contract the disease despite being exposed to it in their homes. That comparison found that the genomic region most strongly associated with cholera susceptibility in this population was one that the CMS scan had indicated as being under strong selection pressure. Genes in this region relate to an innate immune signaling pathway. LaRocque's team had previously shown this pathway to be activated by exposure to cholera toxin, and the current study identified the potential involvement of several additional genes in that pathway.

"An exciting feature of this project was the way it brought together the expertise in population genetics and natural selection of our collaborators at the Broad Institute with the leadership in addressing the health problems of the developing world of the ICDDR,B team led by Firdausi Qadri, with whom we have a longstanding collaboration," says LaRocque, an assistant professor of Medicine at Harvard Medical School. "Understanding the basic biology of a disease is fundamental to making clinically relevant advances in treatment. Our laboratory is now working on further studies of the innate immune response to cholera, and we believe this work will be highly relevant to developing improved vaccines."

###

Lead and co-corresponding author of the Science Translational Medicine report is Elinor Karlsson of the Broad Institute. In addition to Firdausi Qadri, PhD, of ICDDR,B, who is a co-senior author along with LaRocque and Sabeti, the paper's co-authors are Jason Harris, Ok Sarah Shin, Crystal Ellis, Stephen Calderwood and Edward Ryan, MGH Infectious Diseases; Christine Becker and Lynda Stuart, MGH Developmental Immunology; Shervin Tabrizi, Ilya Shylakhter, Nick Patterson, Colm O'Dushlaine and Stephen F. Schaffner, Broad Institute; Atiqur Rahman, Fahima Chowdhury and Alaullah Sheikh, ICDDR,B; and Sameer Gupta, Harvard Medical School. Support for the study includes National Institutes of Health grants TW007409, AI058935, AI079198 and NIH Innovator Award DP2-OD006514-01; grants from the Howard Hughes Medical Institute, the American Cancer Society and the Packard Foundation; and an MGH Claflin Distinguished Scholar Award.

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Genetic signals reflect the evolutionary impact of cholera

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Association for Molecular Pathology v. Myriad Genetics Timeline
Made for the course US Patent Litigation Practices at NCTU.

By: Tsai-fang Chen

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Breast Cancer genetics in PR: Population specific aspects
University of Puerto Rico, Medical Sciences Campus Cancer Genetics Course A 5-day intensive course in the genetics of cancer for upper level undergraduates, ...

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Instant Results With Nutrition Customized Fat Loss Metabolism Overcome Your Genetics
Access To This Instant Results! Click here: http://x.vu/georgecustomizedfatloss Surprising nutrition truths that will empower you with new fat burnning knowl...

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CENTER FOR GENETICS AND SOCIETY - Marcy Darnovsky on Initiative Radio with Angela McKenzie
Marcy Darnovsky, PhD is the Executive Director at the Center for Genetics and Society. She speaks and writes widely on the politics of human biotechnology, f...

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Zebrafish Genetics exhibit at the Royal Society Summer Science Exhibition 2013
Zebrafish Genetics exhibit at the Royal Society Summer Science Exhibition 2013. Find out more about this exhibit here: http://sse.royalsociety.org/2013/exhib...

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Introduction to Gene Therapy
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Conditions for Gene Therapy
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Worlds First 3 Parent Babies Coming Soon
The UK is paving the way for a special in vitro fertilization process that gives one baby DNA from three parents. It #39;s an incredible advancement that can eli...

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July 2, 2013 A single session of a gene therapy developed by the Universitat Autnoma de Barcelona (UAB) cures Sanfilippo Syndrome A in animal models. This syndrome is a neurodegenerative disease that affects between 1 and 9 out of every 100,000 children, and causes the death of the child on reaching adolescence.

The study has been published in The Journal of Clinical Investigation.

Sanfilippo Syndrome type A, or Mucopolysaccharidosis type IIIA (MPSIIIA), is a neurodegenerative disease caused by mutations in the gene that encodes the enzyme sulfamidase. Mutations in this gene lead to deficiencies in the production of the enzyme, which is essential for the breakdown of substances known as glycosaminoglicans. If these substances are not broken down, they accumulate in the cells and cause neuroinflammation and organ dysfunction, mainly in the brain, but also in other parts of the body. Children born with this mutation are diagnosed from the age of 4 or 5. They suffer neurodegeneration, causing mental retardation, aggressiveness, hyperactivity, sleep alterations, loss of speech and motor coordination, and they die in adolescence.

A team of researchers headed by the director of the UAB's Centre for Animal Biotechnology and Gene Therapy (CBATEG), Ftima Bosch, has developed a gene therapy treatment that cures this disease in animal models, with pre-clinical studies in mice and dogs. The treatment consists of a single surgical intervention in which an adenoassociated viral vector is injected into the cerebrospinal fluid, the liquid that surrounds the brain and the spinal cord. The virus, which is completely harmless, genetically modifies the cells of the brain and the spinal cord so that they produce sulfamidase, and then spreads to other parts of the body, like the liver, where it continues to induce production of the enzyme.

Once the enzyme's activity is restored, glycosaminoglican levels return to normal for life, their accumulation in cells disappears, along with the neuroinflammation and dysfunctions of the brain and other affected organs, and the animal's behaviour and its life expectancy return to normal. While mice with the disease lived only up to 14 months, those given the treatment survived as long as healthy ones.

This is a joint project between the UAB and the pharmaceutical company Esteve. The study has been published in the online edition of The Journal of Clinical Investigation.

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Gene therapy cures a severe pediatric neurodegenerative disease in animal models

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Giving hope: The promise of stem cell therapy
MANILA - As stem cell treatment begins to gain traction among Filipinos, a surgeon believes the country is now entering a new phase in medicine.

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#39;Bebot #39; Villar: Stem cell therapy made me weaker
MANILA, Philippines - A government official on Thursday said he is no believer in stem cell therapy after undergoing the procedure but getting zero health be...

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STEM CELL THERAPY discussed in ABS-CBN, UMAGANG KAY GANDA, PUNTO por PUNTO
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Manila (Philippine Daily Inquirer/ANN) -

Hospitals offering stem cell therapy have until Aug. 31 to seek or renew their accreditation from the Department of Health (DOH), a Philippine official said Friday.

"For the information of the public, the DOH is accrediting hospitals for this kind of treatment, and come Aug. 31, these hospitals should file their accreditation requirements (with DOH) for them to continue to offer this treatment," said deputy presidential spokesperson Abigail Valte.

The government is eyeing stricter regulation of hospitals offering stem cell therapy amid speculations that the recent deaths of three politicians were due to the xenogenic (animal-based stem cell) treatment they had received in Germany last year.

Dr. Leo Olarte, president of the Philippine Medical Association (PMA) and spokesperson of the Philippine Society for Stem Cell Medicine, said the groups were still trying to determine whether the politicians had died due to their illness or due to hypersensitivity reaction from the xenogenic stem cells.

Last week, the PMA also warned of a possible scam involving German doctors coming over to perform stem cell therapy on patients in five-star hotels at around 1 million pesos (US$23,000) per shot.

Valte echoed a similar warning from the DOH against doctors offering the procedure in their clinics, saying that "hospitals, not (individual) doctors, nor stand-alone clinics, are the ones being accredited."

Not a 'cure all'

The Palace official also cautioned the public against claims that stem cell therapy was a "cure all" (for diseases).

"There is no treatment that will cure all of your ills. Much less your love problems," Valte said.

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Philippine gov't to tighten rules on stem cell therapy

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By Rima Jessamine Granali Philippine Daily Inquirer

Now she can literally walk a mile.

Lawyer Charito Planas, 83, used to have a hard time getting up. But she can now walk without pain, thanks to stem cell therapy that cost her only five figures.

While hospitals here and abroad charge millions for the treatment, a wellness center in Tagaytay offers the service 10 times cheaper, Planas said.

The cane I used to walk with is just an accessory now, for I walk freely, without pain, without limping, said Planas, a political and human rights activist who sought refuge in the United States during the Marcos martial law administration.

My heavily grey hair has now regained its ebony shade; my skinboth body and facial skinhas regained a youthful, shining glow; and my wrinkles are slowly fading away, she added.

Planas underwent six sessions of stem cell therapy from March to April at Green and Young Health and Wellness Center, owned by Dr. Antonia Carandang Park.

VIP patients

Former President Gloria Macapagal-Arroyo reportedly visited the Filipino physician a day after she was released from detention at Veterans Memorial Medical Center (VMMC) in Quezon City after posting a P1-million bail in July last year. She was taken back to VMMC in October.

Other well-known personalities, such as justices, physicians and a senator, also reportedly frequented the wellness center.

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The prime of Charito Planas, 83, after stem cell therapy on the cheap

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By: Jesus G. Dureza Posted: July 1, 2013 8:28 am

Over the last few days, Fresh Stem Cell Therapy (FCT) got into the headlines due to some controversy involving alleged deaths and complaints mentioning prominent names blaming stem cell treatment for their alleged negative effects.Naturally, just like any controversy, the stories unduly put under cloud this innovative and pioneering science of regenerative medicine that is reputed to treat illnesses, bring well being and rejuvenation.

MY FRIENDS The current news reports caught public attention and went viral. Many friends who were following Beths FCT experience and who were planning to also undergo FCT were calling. They were bothered by the reports. I was myself personally disturbed because all of them who were mentioned as having experienced negative results, I knew in person. Congressman ERICO AUMENTADO of Bohol and Camiguin Congressman LOLOY ROMUALDO both were my close friends and whom I worked with when I was with the government. And the controversy all the more struck me because I and my wife Beth saw and experienced for ourselves the positive NOT NEGATIVE results of FCT seven months after treatment at VILLA MEDICA in Germany.

Let me trace back. I knew Congressman Erico well even when he was still Bohol Governor. His successful efforts in clearing his province of armed insurgency gained national attention. When I was Malacanang Presidential Peace Adviser, I used the Bohol experience as example of a success story. So, when initial reports surfaced about FCT having caused his death, I sat up and took special attention. Later, his son came out publicly DENYING the story saying his father died of pneumonia and NOT due to FCT. He said his fathers lungs were already in serious condition but after getting a first infusion of FCT, his condition suddenly and dramatically improved and he was hitting the election campaign trail like superman. In fact they were preparing to again return to Germany for another infusion encouraged by its initial favorable results when death intervened and overtook events.

The other prominent name mentioned with FCT was former Congressman Loloy. We were together as colleagues in Congress. The Romualdo family had dominated politically the Camiguin island province for a long time up to the present. The circumstances of his undergoing stem cell treatment , however, are not yet clear. My cursory check results showed that he did NOT get FCT from Villa Medica in Germany. This will have to be further validated though.

The other prominent name was former Customs official (and now with Dangerous Drugs Board) ANTONIO BEBOT VILLAR. We were together in the Arroyo administration. He said he and his wife had FCT in a 5-star hotel in Metro Manila, by German and Thai doctors but NOT in Germany. His condition allegedly worsened after the treatment. MY OWN STORY I will not venture to further deal on those incidents simply because they are now subject of further close look by the authorities. And I am not privy with the true facts surrounding their cases. But I will deal on some information that are of my own personal knowledge and the personal experience I and my wife BETH can competently attest to.

As I have written previously, I and my wife Beth traveled all the way to EDENKOBEN, GERMANY last November, 2012 some seven (7) months ago for FCT in the VILLA MEDICA (VM) clinic facilities as an alternative remedy to her deteriorating kidney condition. We were NOT assured that there would be positive results by VM representatives but we took the chance after I made extensive research and consultations with doctors and experts. We even traveled to Bangkok, Thailand to make further inquiries. We were encouraged by reports of well-being and regenerative effects on vital organs. And we took efforts to talk to those who themselves underwent the procedure. We gathered that VILLA MEDICA and its FCT, using fresh stem cell from the fetus of clinically controlled and raised sheep had been recognized, authorized, licensed and closely monitored by stringent standards imposed by GERMAN HEALTH AUTHORITIES of the German government. VILLA MEDICA, founded in 1963 had also a long track record of about 50 YEARS. Fresh cell therapy was pioneered by Dr PAUL NIEHANS in 1931. Another doctor in 1980, GUNTER BIOBEL scientifically dissected the technology and was awarded in 1999 the Nobel Prize in Physiology or Medicine.

After some soul-searching and weighing our options, we decided and took the trouble of traveling to Germany at some cost even when we were told that there were stem cell treatments also being done in the Philippines, at more considerable costs, although still in their infancy stage. We had no way of verifying the reliability of local Philippine FCT providers due to their fairly recent track record. When I checked with St. Lukes Hospital Regenerative division at Global City, the division chief told me they were into this procedure: harvesting human stem cells from the patients themselves, usually from the bone marrow, churn them for 2 weeks in the laboratory using German-made machines and injecting them back to the patient over a 12 month period. However she declined to cite or give an example of a success story simply because they had been into the procedure fairly recently. Also, we were informed that to achieve optimum results, fresh stem cells must be injected (in the buttocks) within two hours from its harvesting from the donor fetus. So getting the FCT infusion right there in the clinic in Germany was far better than having the injectables flown from Germany or elsewhere and get the infusion in Manila, travel time obviously reducing the stem cells efficacy or potency. More importantly, seven months ago, there were NO clear Philippine regulations yet governing FCT, due to its infancy, to give us some level of reasonable comfort and assurance. On the other hand, the procedure in Germany we were told adhered to strictest German standards imposed by the German government. These regulations even cover the growing and maintenance of donor sheep and the harvesting of stem cells from 18-week old fetus under clinical control and conditions. And specific success stories were many.

And more importantly, we were in a desperate mode due to the continuous decline of Beths kidney conditions. As preparatory steps, Beth went through a series of tests which were screened and studied by her doctors in Manila and even through German doctors in Villa Medica in Edenkoben who had to make the final decision whether she was qualified to get the treatment. Even her Nephrologist who happens to be also a family friend and a known kidney transplant surgeon at the National Kidney Institute recommended that we try FCT. That sealed our decision.

So, off we went to Germany last November, 2012. Of course at great expense. (Treatment costs EURO 15,000 or about 830,000 PHP ) But nonetheless. AFTER 7 MONTHS Today, seven months after the treatment, and in contrast to the sketchy stories surrounding the cases of my friends ERICO, LOLOY and BEBOT as reported in the media, our own testimonials of the FCT at VILLA MEDICA are a bit different from those horror stories. I also personally met and discussed with others who themselves went to the German facility for FCT and our testimonials coincided.

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FCT Controversy: MY STEM CELL THERAPY STORY

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Researchers at UCLA's Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have successfully established the foundation for using hematopoietic (blood-producing) stem cells from the bone marrow of patients with sickle cell disease to treat the disease. The study was led by Dr. Donald Kohn, professor of pediatrics and of microbiology, immunology and molecular genetics.

Sickle cell disease causes the body to produce red blood cells that are formed like the crescent-shaped blade of a sickle, which hinders blood flow in the blood vessels and deprives the body's organs of oxygen.

Kohn introduced an anti-sickling gene into the hematopoietic stem cells to capitalize on the self-renewing potential of stem cells and create a continual source of healthy red blood cells that do not sickle. The breakthrough gene therapy technique for sickle cell disease is scheduled to begin clinical trials by early 2014. The study was published online today ahead of press in the Journal of Clinical Investigation.

Kohn's gene therapy approach, which uses hematopoietic stem cells from a patient's own blood, is a revolutionary alternative to current sickle cell disease treatments as it creates a self-renewing normal blood cell by inserting a gene that has anti-sickling properties into hematopoietic stem cells. This approach also does not rely on the identification of a matched donor, thus avoiding the risk of rejection of donor cells. The anti-sickling hematopoietic stem cells are transplanted back into the patient's bone marrow and multiply the corrected cells that make red blood cells without sickling.

"The results demonstrate that our technique of lentiviral transduction is capable of efficient transfer and consistent expression of an effective anti-sickling beta-globin gene in human sickle cell disease bone marrow progenitor cells, which improved the physiologic parameters of the resulting red blood cells," Kohn said.

Kohn and colleagues found that in the laboratory the hematopoietic stem cells produced new non-sickled blood cells at a rate sufficient for significant clinical improvement for patients. The new blood cells survive longer than sickled cells, which could also improve treatment outcomes.

Sickle cell disease mostly affects people of Sub-Saharan African descent, and more than 90,000 patients in the U.S. have been diagnosed. It is caused by an inherited mutation in the beta-globin gene that makes red blood cells change from their normal shape, which is round and pliable, into a rigid, sickle-shaped cell. Normal red blood cells are able to pass easily through the tiniest blood vessels, called capillaries, carrying oxygen to organs such as the lungs, liver and kidneys. But due to their rigid structure, sickled blood cells get stuck in the capillaries.

Current treatments include transplanting patients with donor hematopoietic stem cells, which is a potential cure for sickle cell disease, but due to the serious risks of rejection, only a small number of patients have undergone this procedure and it is usually restricted to children with severe symptoms.

This study was supported in part by a Disease Team I Award from the California Institute for Regenerative Medicine, the state's stem cell research agency, which was created by a voter initiative in 2004. The purpose of the disease team program is to support research focused on one particular disease that leads to the filing of an investigational new drug application with the FDA within four years. The program is designed to speed translational research - research that takes scientific discoveries from the laboratory to the patient bedside. This requires new levels of collaboration between basic laboratory scientists, medical clinicians, biotechnology experts and pharmacology experts, to name a few.

Other support came from UCLA's Broad Stem Cell Research Center and Jonsson Comprehensive Cancer Center, and from the Ruth L. Kirschstein National Research Service Award.

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Stem-cell gene therapy for sickle-cell disease advances

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July 1, 2013 The idea that worms can be seen as waveforms allowed scientists at Rice University to find new links in gene networks that control movement.

The work led by Rice biochemist Weiwei Zhong, which will appear online this week in the Proceedings of the National Academy of Sciences Early Edition, involved analyzing video records of the movement of thousands of mutant worms of the species Caenorhabditis elegans to identify the neuronal pathways that drive locomotion.

One result was the discovery of 87 genes that, when inactivated, caused movement defects in worms. Fifty of those genes had never been associated with such defects, and 37 have implications in human diseases, the researchers found.

Another discovery was the existence of several network modules among these genes. One module detects environmental conditions. Another resides in all "excitable cells" -- those types that respond to electrical signals -- in the worm's neurons, muscles and digestive tracts. Another coordinates signals in the motor neurons.

The team also uncovered new details about a protein-signaling pathway found in all animals, Zhong said.

Zhong said the study is the first to provide a system-level understanding of how neuronal signaling genes coordinate movement and shows the value of a quantitative approach to genetic studies. She said the approach could be useful in studies of gene-to-drug or drug-to-drug interactions.

What made the research possible is the fact that cameras and computers are able to see variations in movement that are too small for eyes and minds to notice, Zhong said. "The idea is that if a gene is required for maintaining normal movement and we pick a mutant, the computer should be able to detect the defects," she said.

"I'm very observant," she said, "and I thought I could tell the worms with abnormal behaviors. I was surprised to see there were so many things I missed that the computer picked up."

The Rice researchers, with help from associates at the California Institute of Technology and Howard Hughes Medical Institute (HHMI), analyzed 239 mutant C. elegans, a common worm used in studies since the 1970s. Including a set of "wild-type" C. elegans that was used as a baseline, the Rice lab studied more than 4,400 worms. Each type was ordered from the Caenorhabditis Genetics Center and separated by mutation.

The worms were filmed one at a time. Each was placed in a petri dish (seeded with E. coli bacteria for food) on a motorized platform and filmed by a computer-controlled camera/microscope. The computer re-centered the camera on the worms any time they moved near the edge of the camera's field of view.

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Wiggling worms make waves in gene pool

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Washington, July 02 (ANI): A new research has found out that RORA, a novel candidate gene for autism, regulates a large number of other genes associated with the condition.

Valerie Hu, Ph.D., professor of biochemistry and molecular medicine at the George Washington University (GW) School of Medicine and Health Sciences (SMHS), who along with his group discovered the gene in 2010, conducted the study.

"We are focusing on this gene, in part, because this gene can act as a master regulator of other genes," Hu said.

"Called nuclear hormone receptors, they are capable of activating or suppressing other genes in the genome. The question was which specific genes are regulated by RORA," he explained.

Hu and co-author, Tewarit Sarachana, Ph.D., a former doctoral student in the molecular medicine doctoral program at SMHS, found that RORA encodes a protein that can regulate the expression of more than 2,500 other genes.

Of these 2,500 genes, many are known to be involved in neuronal development and functions, and 426 of RORA's gene targets are already listed in AutismKB, a database of known autism candidate genes.

To identify genes regulated by RORA, Hu and Sarachana used chromatin immunoprecipitation (ChIP) with an anti-RORA antibody followed by whole-genome promoter array (chip) analysis.

This genome-wide ChIP-on-chip analysis of target genes of RORA, as well as additional methods of validation, confirmed that RORA transcriptionally regulates the genes A2BP1, CYP19A1, HSD17B10, ITPR1, NLGN1, and NTRK2, such that when RORA levels are cut in half, all six genes also go down in their expression.

The expression levels of these six genes are also reduced in RORA-deficient postmortem brain tissues from individuals with autism relative to that of age-matched unaffected controls.

"We see it as a domino effect, where RORA is a particularly shaky domino," said Hu.

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New regulatory autism gene discovered

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July 2, 2013 Researchers have pinpointed the role of a gene known as Arl13b in guiding the formation and proper placement of neurons in the early stages of brain development. Mutations in the gene could help explain brain malformations often seen in neurodevelopmental disorders.

The research, led by a team at the University of North Carolina School of Medicine, was published June 30 in the journal Nature Neuroscience.

"We wanted to get a better sense of how the cerebral cortex is constructed," said senior study author Eva Anton, PhD, a professor in the Department of Cell Biology and Physiology and a member of the UNC Neuroscience Center. "The cells we studied -- radial glial cells -- provide a scaffolding for the formation of the brain by making neurons and guiding them to where they have to go. This is the first step in the formation of functional neuronal circuitry in the brain. This study gives us new information about the mechanisms involved in that process."

The researchers became interested in the Arl13b gene because of its expression in a part of the cell called primary cilium and its association with a rare neurological disorder known as Joubert syndrome. The syndrome is characterized by brain malformations and autism like features.

"In addition to helping us understand an important cellular mechanism involved in normal brain development, this study may offer an explanation for some of the malformations seen in Joubert syndrome patients," said Anton. Although there is no immediate clinical application for these patients, the study does help illuminate the factors behind the disease. "It shows what may have gone wrong in some of those patients that led to the malformations," said Anton.

The cerebral cortex, the brain's "gray matter," is responsible for higher-order functions such as memory and consciousness. Like the scaffolding builders use to move people and materials during construction, radial glial cells provide an instructive matrix to create the basic structural features of the cerebral cortex. Mistakes in the formation and development of radial glial cells can translate into structural problems in the brain as it develops, said Anton.

Both mice and humans have the Arl13b gene. The researchers generated a series of mice with mutations on the Arl13b gene at different developmental stages to track the mutations' effects on brain development. They discovered that the gene is crucial to the radial glial cells' ability to sense signals through an appendage called the primary cilium. Without this signaling capability, the radial glia were unable to organize into an instructive scaffold capable of orchestrating the orderly formation of cerebral cortex. "The cilia in these cells play an important role in the initial setup of this scaffolding," said Anton. "Without a functioning Arl13b gene, the cells were not able to determine polarity and formed haphazardly. As a result, they formed a malformed cerebral cortex with ectopic clusters of neurons, instead of the orderly layers of neurons with appropriate connectivity that would be expected, in the developing brain.

Co-authors include Holden Higginbotham, Jiami Guo, Yukako Yokota, Jingjun Li, Nisha Verma, Vladimir Gukkasyan and Joshua Hirt from UNC, and Nicole Umberger, Chen-Ying Su, and Tamara Caspary of Emory University.

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Gene's key role in building the developing brain's scaffolding discovered

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Public release date: 1-Jul-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 1, 2013Among the increasingly valuable roles fungi are playing in the biotechnology industry is their ability to produce enzymes capable of releasing sugars from plants, trees, and other forms of complex biomass, which can then be converted to biofuels and biobased chemicals. Advances in fungal biology and in bioengineering fungal systems industrial applications are explored in a series of articles in Industrial Biotechnology, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The articles are available on the Industrial Biotechnology website.

Guest Editors Scott Baker, PhD, Pacific Northwest National Laboratory (PNNL, Richland, WA), Antoine Margeot, PhD, IFP Energies nouvelles (Rueil-Malmaison Cedex, France), and Adrian Tsang, PhD (Concordia University, Montreal, Quebec, Canada), collaborated on the IB IN DEPTHSpecial Section on Fungal Biology in Industrial Biotechnology.

In the Overview "Fungi and Industrial Biotechnology A Special Issue for an Amazing Kingdom," Dr. Baker says, "For more than a century fungi have had an enormous footprint in industrial biotechnology, from the first US biotechnology patent to current research in biofuels and renewable chemicals."

The Special Section includes Review articles by Kevin McCluskey, PhD, Curator of the Fungal Genetics Stock Center at the University of Missouri, Kansas City, entitled "Biological Resource Centers Provide Data and Characterized Living Material for Industrial Biotechnology," and by Justin Powlowski, PhD's group at the Centre for Structural and Functional Genomics, Concordia University, Montreal, Quebec, Canada.

Etienne Jourdier, PhD, and colleagues present a "Comprehensive Study and Modeling of Acetic Acid Effect on Trichoderma reesei Growth." Contributing the research study "In-Stream Itaconic Acid Recovery from Aspergillus terreus Fedbatch Fermentation" is a research team from TNO Microbiology & Systems Biology, Zeist, the Netherlands, let by Professor Peter Punt.

Included in the Fungal Biology Special Section is an IB Interview with Blake Simmons, PhD, Joint BioEnergy Institute (JBEI, Emeryville, CA) and Sandia National Laboratories (Livermore, CA), and Jon Magnuson, PhD, JBEI and PNNL. John Nicksich, Environmental Molecular Sciences Laboratory (PNNL, Richland, WA), describes the cutting-edge technology used to explore and bioengineer fungi in the Catalyzing Innovation article "EMSL Capabilities and Expertise: Pushing the Frontiers of Bioengineering."

"Scientific and technological advances in the life sciences are providing exciting new ways to engage old and familiar microbial friends in a number of novel and innovative industrial biotechnology activities," says Larry Walker, PhD, Co-Editor-in-Chief and Professor, Biological & Environmental Engineering, Cornell University, Ithaca, NY.

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Bioengineering fungi for biofuels and chemicals production

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Bob Hancox.

Genetic risk assessments could eventually also be used to predict which children with asthma were likely to grow out of the condition, and which would continue having symptoms as they grew older, the research suggested.

The study's lead author is Dr Daniel Belsky, of the Duke University Medical Centre, in North Carolina, in the United States, and one of the Otago authors is Associate Prof Bob Hancox, a respiratory physician in the Otago preventive and social medicine department.

Prof Hancox said the results were ''interesting'' from a scientific viewpoint but, like all good research, also raised many questions.

''There's a lot more to find out.''

It was ''early days'', a great deal more research had to be done, and it was much too early to apply the research to the clinical management of individual patients.

The research again high-lighted the international importance of the long-running Dunedin multidisciplinary study of about 1000 children born in 1972-73, he said.

A team of Otago and Duke University researchers set out to test how genetic discoveries concerning asthma predisposition related to the developmental and biological characteristics of the condition. Their findings were published last month in the online edition of the United Kingdom journal The Lancet Respiratory Medicine.

After analysing data from the Dunedin Multidisciplinary Study, the team discovered that people both with childhood asthma and higher genetic risk scores for being predisposed to it were more than one-third (36%) more likely to develop lifelong asthma than those found to have a lower genetic risk.

Participants with asthma and a higher genetic risk were also more likely to develop atopic (allergic) asthma and impaired lung function (airway hyper-responsiveness and incompletely reversible airflow obstruction), and to miss school or work and to be hospitalised because of asthma.

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Varsity adds to research on asthma

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