Archive for the ‘Gene Therapy Research’ Category

ScienceDaily (May 29, 2012) The discovery of a mummified Korean child with relatively preserved organs enabled an Israeli-South Korean scientific team to conduct a genetic analysis on a liver biopsy which revealed a unique hepatitis B virus (HBV) genotype C2 sequence common in Southeast Asia.

Additional analysis of the ancient HBV genomes may be used as a model to study the evolution of chronic hepatitis B and help understand the spread of the virus, possibly from Africa to East-Asia. It also may shed further light on the migratory pathway of hepatitis B in the Far East from China and Japan to Korea as well as to other regions in Asia and Australia where it is a major cause of cirrhosis and liver cancer.

The reconstruction of the ancient hepatitis B virus genetic code is the oldest full viral genome described in the scientific literature to date. It was reported in the May 21 edition of the scientific journal Hepathology by a research team from the Hebrew University of Jerusalem's Koret School of Veterinary Medicine, the Robert H. Smith Faculty of Agriculture, Food and Environment; the Hebrew University's Faculty of Medicine, the Hadassah Medical Center's Liver Unit; Dankook University and Seoul National University in South Korea.

Carbon 14 tests of the clothing of the mummy suggests that the boy lived around the 16th century during the Korean Joseon Dynasty. The viral DNA sequences recovered from the liver biopsy enabled the scientists to map the entire ancient hepatitis B viral genome.

Using modern-day molecular genetic techniques, the researchers compared the ancient DNA sequences with contemporary viral genomes disclosing distinct differences. The changes in the genetic code are believed to result from spontaneous mutations and possibly environmental pressures during the virus evolutionary process. Based on the observed mutations rates over time, the analysis suggests that the reconstructed mummy's hepatitis B virus DNA had its origin between 3,000 to 100,000 years ago.

The hepatitis B virus is transmitted through the contact with infected body fluids , i.e. from carrier mothers to their babies, through sexual contact and intravenous drug abuse. According to the World Health Organization, there are over 400 million carriers of the virus worldwide, predominantly in Africa, China and South Korea, where up to 15 percent of the population are cariers of the virus. In recent years, universal immunization of newborns against hepatitis B in Israel and in South Korea has lead to a massive decline in the incidence of infection.

The findings are the result of a collaborative effort between Dr. Gila Kahila Bar-Gal of the Hebrew University of Jerusalem's Koret School of Veterinary Medicine; Prof. Daniel Shouval of the Hadassah Medical Center's Liver Unit and Hebrew University; Dr. Myeung Ju Kim of Dankook University, Seok Ju Seon Memorial Museum; Dr. Dong Hoon Shin of Seoul National University, College of Medicine ; Prof Mark Spigelman of the Hebrew University's Dept. of Parasitology and Dr. Paul R. Grant of University College of London,Dept. of Virology.

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16th-century Korean mummy provides clue to hepatitis B virus genetic code

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DALLAS, May 29, 2012 (GLOBE NEWSWIRE) -- Rapid advancements in genetic disease research necessitate innovative safeguards for patients, according to new American Heart Association policy recommendations published in Circulation, an American Heart Association journal.

Recent scientific progress includes the mapping of the entire human genetic code, or genome, which was completed in 2003, and new accelerated gene-sequencing techniques. These discoveries have led to cheaper, more readily available genetic tests, but regulations have lagged behind.

"The potential of the new technologies is incredible," said Euan A. Ashley, M.R.C.P., D.Phil., chair of the policy statement writing group and assistant professor of medicine in the Cardiovascular Division and director of the Center for Inherited Cardiovascular Disease at Stanford University School of Medicine, in Stanford, California.

"Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information," Ashley said. "If the information is available, how best do we use it to really improve care for individual patients?"

Focusing on heart and blood vessel diseases, the policy statement recommends:

In the modern era, gene sequencing simply involves observation of the natural world and not invention, therefore genes should not be patentable. The investigators cite a controversial case, now before the Supreme Court, of a company that patented the two primary genes -- BRCA1 and BRCA2 -- linked to an increased breast and ovarian cancer risk. The company has a monopoly on testing related to these genes and some believe this monopoly has reduced access to this test for women.

Establishing federal oversight of genetic tests

All genetic tests should be regulated for quality. The Food and Drug Administration (FDA) is well suited to this task because it has statutory authority, scientific expertise and experience in regulating genetic tests.

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Safeguards Against Misuse of Genetic Data Urged

Newswise LOS ANGELES (MAY 28, 2012) David L. Rimoin, MD, PhD, director of the Cedars-Sinai Medical Genetics Institute, a pioneer in research in skeletal disorders and abnormalities who played a pivotal role in developing mass screenings for Tay-Sachs and other heritable disorders, died early Sunday in Los Angeles. He was 75.

Rimoin, Cedars-Sinais Steven Spielberg Family Chair in Pediatrics, died after a diagnosis of Stage 4 pancreatic cancer in early May.

Beloved throughout the academic medical world as a mentor who demonstrated model dedication, compassion, kindness, humor and personal balance to colleagues and dozens and dozens of physicians and scientists, many of whom would become leaders in the field, Rimoin was just the second member of his extended family to go to college.

He became a member of the Institute of Medicine of the National Academy of Sciences, a Master in the American College of Physicians and an Honorary Life member of Little People of America. From 1979 to 1983, Rimoin served as founding president of the American Board of Medical Genetics, formed to improve the standards of care in the area of medical genetics.

Rimoin, a longtime Beverly Hills resident who was a devoted husband and father, is survived by his wife, Ann, and three children. While his funeral will be closed, planning is under way for a public memorial.

David Rimoin was a magnificent scientist and physician whose contributions were global in scale, said Thomas M. Priselac, president and CEO of Cedars-Sinai. The arrival of David and his team in 1986 represented an essential element of the foundation on which Cedars-Sinais academic mission has grown and flourished over the years. His kindness and his grace were without equal."

Working with Michael M. Kaback, MD, Rimoin played a fundamental role in developing mass screenings for Tay-Sachs, a rare and fatal genetic disorder that affected the Ashkenazi Jewish population in the United States and Israel. The Tay-Sachs testings were the first large-scale genetic screening and have virtually eliminated the disease.

We have lost a giant in medicine, said Lawrence B. Platt, chair of the Cedars-Sinai Board of Directors. For those of us who had the great fortune of having David in our lives, we have lost a cherished friend. David touched the lives of so many people in such significant ways that his passing leaves a void that will never be filled."

For 18 years prior to founding the Medical Genetics Institute in 2004, Rimoin served as chair of the Cedars-Sinai Department of Pediatrics. Before joining Cedars-Sinai in 1986, Rimoin served as chief of the Division of Medical Genetics at Harbor-UCLA Medical Center. He also was director of the Genetics Clinic at the Washington University School of Medicine in St. Louis.

Rimoins primary research focused on medical genetics, specifically short stature and skeletal dysplasias a group of disorders associated with abnormalities in the size and shape of the limbs, torso and skull as well as heritable disorders of connective tissue. He founded and directed the International Skeletal Dysplasia Registry, the largest such registry in the world and wrote a primary textbook, Emery and Rimoins Principles and Practices of Medical Genetics, now in its sixth edition.

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David L. Rimoin MD, PhD, Director of the Cedars-Sinai Medical Genetics Institute, 1936 - 2012

27-05-2012 05:31 05/25/2012 Women have many options when it comes to birth control, while men don't have any. But all that could change. Researchers have discovered a gene that is essential to the production of sperm. Scientists at the University of Edinburgh found that the gene, called Katnal1, causes temporary infertility in male mice when blocked. The team gave mice a chemical called ENU that triggers genetic mutations. They then bred the mice to see if any of them became infertile, isolated the impotent mice, and backtracked through their genetic code to identify which gene was disrupted by ENU. The team identified that Katnal1 is used to regulate a structure known as microtubules, which are the parts of sperm needed for nutrients and support. According to the study, this gene could be key in developing birth control for men, and better understanding male infertility. With this key bit of information, scientists say a non-hormonal contraceptive for men may be just five to 10 years away. This video is [FAIR USE], under © COPYRIGHT LAW it is: ? noncommercial ? trans-formative in nature ? not competitive with the original work ? not effecting its market negatively ? Thank you. [FAIR USE NOTICE]: [This video contains copyrighted material the use of which has not always been specifically authorized by the copyrig owner. We are making such material available in our efforts to advance understandichtice issues, etc. We believe this constitutes a 'fair use' of any such ...

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New Sperm Gene Discovery Could Lead to Male BIRTH CONTROL [©IBTimesTV] - Video

Editor's Choice Main Category: Cancer / Oncology Also Included In: Genetics Article Date: 28 May 2012 - 16:00 PDT

Current ratings for: 'Chronic Inflammation Gene May Destroy Tumors'

Robert J. Schneider, PhD, the Albert Sabin Professor of Molecular Pathogenesis and associate director for translational research and co-director of the Breast Cancer Program at the NYU Langone Medical Center, who was the principal investigator of the study, declared:

Scientists have known for decades that accelerated ageing, inflammation and cancer are somehow related, yet exactly how these conditions are linked has so far been unknown. The little knowledge available has partly been obtained in Schneider's previous studies, mainly that a gene called AUF1 controls inflammation by switching off the inflammatory response to prevent the onset of septic shock, and although this finding is significant, it fails to shed light on the link to ageing and cancer. The team observed that accelerated ageing occurred when the AUF1 gene was deleted, which led them to investigate further. A decade later, they have finally discovered the link between inflammation, advanced aging and cancer.

They found out that aside from controlling inflammation, AUF1, which belongs to a family of four related genes, also maintains the integrity of chromosomes. It activates telomerase, an enzyme, to repair the ends of chromosomes, and by doing so, it simultaneously reduces inflammation, prevents rapid aging and cancer from developing. Dr. Schneider explained: "AUF1 is a medical and scientific trinity. Nature has designed a way to simultaneously turn off harmful inflammation and repair our chromosomes, thereby suppressing aging at the cellular level and in the whole animal."

Armed with this new discovery, Dr. Schneider and his team are currently researching how the alterations manifest and present themselves clinically. They are examining human populations for specific types of genetic changes in the AUF1 gene, which are associated with rapid ageing, higher risk of cancer and co-developments of certain immune diseases.

Written By Petra Rattue Copyright: Medical News Today Not to be reproduced without permission of Medical News Today

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Petra Rattue. "Chronic Inflammation Gene May Destroy Tumors." Medical News Today. MediLexicon, Intl., 28 May. 2012. Web. 29 May. 2012. <http://www.medicalnewstoday.com/articles/245916.php>

Please note: If no author information is provided, the source is cited instead.

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Chronic Inflammation Gene May Destroy Tumors

Obituaries

May 28, 2012

Dr. David Rimoin

Dr. David Rimoin, a pioneering physician and researcher in the field of medical genetics, died May 27, 2012 at the age of 76.

Dr. Rimoin succumbed after a private battle with pancreatic cancer.

Colleagues and friends, many of whom were not aware of his sudden diagnosis, reacted with shock.

We have lost a giant in the field of medicine, said an official statement from the Cedars Sinai board of directors. His medical contributions will continue to bring healing for generations.

Dr. Rimoin held the Steven Spielberg Family Chair in Pediatrics and was Director of the Medical Genetics Institute at Cedars Sinai Medical Center. He was also Professor of Pediatrics, Medicine and Human Genetics at the David Geffen School of Medicine at UCLA. At Cedars, he conducted groundbreaking research into dwarfism and skeletal dysplasia. His 1970 demonstration that diabetes mellitus was the reflection of multiple genetic variants laid the foundation for the field of common disease genetics. His 1983 textbook, Emery and Rimoins Principles and Practice of Medical Genetics remains a classic in the field. Dr. Rimoin published over 400 articles in peer-reviewed journals.

David Rimoin was born in 1936 in Montreal, Canada. He earned his PhD from McGill Medical School in 1961, and received his PhD in human genetics in 1967 from Johns Hopkins.

In 1970 he arrived in LA, where he built the division of human genetics first at Harbor-UCLA Medical Center, then at Cedars Sinai.

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Dr. David Rimoin, pioneering geneticist, dies at 76

THE MAKATI Medical Centers Cancer Center celebrated its first year anniversary and marked the occasion with the launch of its Cellular Therapeutics Laboratory. Present at the ribbon-cutting ceremony were Dr. Eric Flores, head, Spine Clinic and Stem Cell Lab; Rosalie Montenegro, Makati Medical Center president and CEO; Dr. ManuelO. Fernandez Jr., executive vice president and director, Professional Services; Dr. Remedios G. Suntay, director and treasurer, MDI Board; Dr. Benjamin N. Alimurung, medical director; Dr. Francis Chung, scientific officer, Stem Cell Lab; and Augusto P. Palisoc Jr., executive director, president and CEO, MPIC Hospital Group.

MAKATIMEDS Cellular Therapeutics Laboratory is managed by experienced scientists with extensive training and is affiliated with the International Society for Cellular Therapy.

Stem cell therapy is now being offered at Makati Medical Center (MMC) as potential cure for a wide range of illnesses, from various types of cancer and heart ailments to incurable diseases such as multiple sclerosis, Parkinsons and Alzheimers.

Stem cell therapy is believed to be effective in bone marrow transplant for leukemia patients, and with early intervention, yields desirable results among renal and prostate cancer patients.

Launched in the first year anniversary of the hospitals cancer center, MMCs Cellular Therapeutics Laboratory is equipped with technology touted to be totally unmatched in our country, says Dr. Francis Chung, scientific officer of the lab. No system exists elsewhere.

Employing the strictest sterility standards at par with that of the US Food and Drug Administration, the lab has state-of-the-art facilities. The Clinimacs CD34 Reagent System is a machine that isolates specific cells needed for the procedure, while the Flow Cytomer ensures the purity of cultured cells.

Transplantation

Sourcing the stem cells, however, is what truly sets the Philippines premier health institution apart from chi-chi spas that also push stem cell therapy for beauty and anti-aging procedures.

At MMC, healthy stem cells are acquired from the patients themselves, a process known as autologous transplantation. For those suffering from an ailment, a parent, sibling or other close relative could be the donor. The hospital strives for utmost compatibility between patient and donor through a 10-point DNA matching system.

If a battery of tests finds a patient to be up to it, medication is given to prepare him for stem cell harvest.

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Makati Medical Center now offering stem cell therapy

Sarada Krishnan, director of horticulture at the Denver Botanic Gardens, holds coffee tree leaves she collected recently from a trip to South Sudan to study the DNA of the plants. (Cyrus McCrimmon, The Denver Post)

Coffee didn't alter the direction of Sarada Krishnan's life. It merely flowed through it.

She was a year into her Ph.D. at the University of Colorado at Boulder, focusing on Prunus africana, an endangered tree in Madagascar. After a year of toil reviewing all the previous research, she found out the grant she'd been hoping would fund her project had been given to another scholar.

"I was devastated," she said. "After a year of working on it, I had to completely start over."

She opened a book, and a photograph fell out. It showed her late father, standing in the trees of her family's coffee plantation in the Wynad district of Kerala, an Indian state.

"I thought, 'Oh! Maybe I should work on coffee.' And it turned out there was a need for coffee research in Madagascar."

The liquid fuel that kick-starts so many mornings across the globe is anything but simple in horticulture, in commerce, in ethics. Coffee is the world's second-most widely traded commodity (oil is No. 1). It provides a living for 75 million people. The coffee fruit, whose "beans" are actually seeds, grows on trees in the subtropical mountains of Jamaica, Haiti, El Salvador, Ethiopia, Kenya 80 countries in all.

Preserving the genes of those coffee trees is what drives Krishnan, the Denver Botanic Gardens' horticulture director. And it drives her at 80 or 90 miles an hour. She talks fast, the words, big technical ones, tumbling out. Since powering through that bump on the way to her doctorate, she has bought two coffee plantations in Jamaica and is part-owner of a third; she'd like to use one of them for coffee research. She's consulted on efforts to revitalize the coffee industry in Haiti. She's waiting for her importer's license and certification to come through. She's divorced with two sons, Vinay, 19, and Vilok, 16.

Her favorite brew? Jamaican Blue Mountain,. Her drink at Starbucks? A triple-shot latte. "I do sugar and milk, which is sacrilege to real coffee experts. Sugar is bad enough, but milk! But that's how I grew up drinking it. And I started at 7 or 8 years old."

She drinks coffee. She farms coffee. She studies coffee. "For me, having the production side is beneficial to the scientific side and vice versa," she says.

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Denver researcher works to study, preserve coffee beans' gene pool

Burr, the drummer with Maiden from 1979 until 1982, has been in a wheelchair as a result of multiple sclerosis, which has been attacking his nervous system since before he was diagnosed in 2002.

MS reduces the ability of the brain and spinal cord to communicate with each other, resulting in a wide range of potentially severe symptoms. The cause is unknown and there is no cure; but in 2009 researchers made the first breakthrough in reversing symptoms through stem cell therapy.

Di'Anno tells Talking Metal Pirate Radio Burr's condition is "not very good at all." - He had a lot to say, read it here.

Classic Rock Magazine is an official news provider for antiMusic.com. Copyright Classic Rock Magazine- Excerpted here with permission.

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Di'Anno Wants Former Iron Maiden Bandmate To Undergo Stem Cell Therapy Recap

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Contact: Craig Brierley c.brierley@wellcome.ac.uk 44-207-611-7329 Wellcome Trust

A gene previously linked to too much growth in patients has now also been linked to growth restriction. Different forms of the gene can lead to very different conditions, according to research published today in the journal Nature Genetics.

IMAGe* syndrome is a rare developmental disorder which can affect foetal growth, resulting in smaller than average body and organ size. Without treatment, the disorder can have potentially life-threatening consequences from adrenal gland failure.

The condition was first identified twenty years ago by Eric Vilain, then a researcher in France. Now, Professor Vilain and colleagues at the University of California, Los Angeles, together with researchers at the UCL Institute of Child Health in the UK, have identified the disorder as being caused by a particular mutation of a gene known as CDKN1C, found on chromosome 11. They made their discovery after analysing DNA samples from an Argentinian family affected by IMAGe syndrome, together with existing samples from patients collected over the past two decades.

Scientists have known for some time now that CDKN1C plays an important role in regulating cell growth. Mutations of this gene have been previously associated with an 'overgrowth' syndrome called Beckwith-Wiedemann syndrome, which causes large body parts and large organs and carries an increased risk of tumours. The link with IMAGe is the first time that the gene has been associated with growth restriction.

"We discovered a mutation in chromosome 11 that consistently appeared in every family member affected by IMAGe Syndrome," explains Professor Vilain. "We were a little surprised, though, because the mutation was located on a gene previously recognised as causing Beckwith-Wiedemann Syndrome. Finding dual functions in one molecule is an unusual biological phenomenon. These two diseases are polar opposites of each other.

"The results are particularly special for me as we have finally been able to identify the cause of the condition that I first encountered twenty years ago. This is a big step forward and should help affected families in the future. We can now use gene sequencing as a tool to screen for the mutation and diagnose children early enough for them to benefit from medical intervention."

In fact, the researchers found that IMAGe syndrome was only associated with changes in the maternal CDKN1C gene. If only the copy of the gene inherited from the father carried the mutation, the child was unaffected. This process of 'switching on' genes differently depending on whether they are inherited from the mother or the father is known as 'imprinting'. Some scientists believe that imprinted genes have evolved to play an important role in how the foetus develops in the womb; a smaller foetus carries an advantage to the mother as it increases her chances of survival during childbirth, whilst the father's genes may work to increase the birth size and hence chances of survival of the offspring.

Dr John Achermann, a Wellcome Trust Senior Research Fellow at the UCL Institute of Child Health, UCL, says: "Our surprising finding shows that different changes in the same gene can lead to very different effects. The results give us clues not only in relation to growth during human development, but also to how cells grow and divide and lead to tumours."

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Variations of a single gene can lead to too much or too little growth, study shows

27-05-2012 09:27 Special upload for webkinzgirle12 and turebeliever24 I DO NOT OWN THIS SHOW S05E14 Selective Breeding Lu treats a young patient with Bi-Polar disease which causes her to act hazardously violent. Her mother must decide whether to keep her or give her up to a mental institution. Meanwhile, Andy helps a woman have an invitro fertilization. She uses new technology to help the couple have a boy because of a genetic female-only disease in the family but later a web of lies and deceivements is revealed. Peter gets jealous when Kayla dates a man he volunteers for at a zoo.

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Strong Medicine ''Selective Breeding'' 1/2 - Video

EURANGIE Park Murray Greys principal Malcolm Carson is pushing the boundaries of the breed through the outcross of genetics.

His cattle, be it Murray Grey, Angus, or a composite, are all Breedplan recorded and society registered in a quest to breed great cattle, no matter what the breed.

While Mr Carson believes the grey and silver cattle he breeds are more suited to the Australian climate than other breeds, he aims to uses good genetics in his herd, regardless of the colour.

"When it comes to breeding cattle, I am not locked into any one colour, and I have been using the best proven genetics for 11 years, be it Angus or Murray Grey," he said.

"A majority of my herd are recorded on the multi-breed register with the Angus and Murray Grey societies, as well as performance recorded with Breedplan.

"I would say they are Grey Angus cattle."

Mr Carson said people get "stuck in the tram tracks" and should look past the colour of an animal.

He is now running pure-bred Angus cows and pure-bred Murray Grey cows and uses artificial insemination to produce composites that are either 25 per cent, 50pc or 75pc Murray Grey.

Popular genetics are used in the herd to expand the gene pool, with Te Mania, Ardrossan and Lawson Angus bloodlines now present in the cattle.

Mr Carson is targeting high intramuscular fat, eye muscle area, 600-day growth rate and milking ability, as well as focusing strongly on temperament.

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Eurangie Park's commitment to genetics

I was browsing the Harappa results, and two new things jumped out at me. Zack now has enough St. Thomas Christian samples from Kerala that I think we need to accept as the likely model that this community does not derive from the Brahmins of Kerala, as some of them claim. Their genetic profile is rather like many non-Brahmin South Indians, except the Nair, who have a peculiar attested history with the Brahmins of their region.

But thats not the really interesting finding. Below is a table I constructed from Zacks data.

I was curious about the distribution of the Northeast European component in South Asia. This element is almost entirely lacking in non-Brahmin South Indians (except for the Nair), but, it is present in non-Brahmin Indo-European speaking Indians, including Biharis and Bengalis. And interestingly, it is present in the same rough fraction in North Indian and South Indian Brahmins regardless of locale, ~5 percent in the former case, and ~10-15 percent in the latter. I initially divided them into two language classes, but noticed that the Maharashtra samples were more like the South Indians.

Then I remembered something random: there is a tradition dividing Indians Brahmin communities in two, on a north-south split. The above partition does not perfectly reflect the oral history and custom, but it is very close. The Brahmins of South India are a particularly homogeneous lot. Id bet that their diversity is a function of cultural evolution and adaptation to local circumstances, not disparate origins. Rather, they derive from some initial migration from a specific North Indian Brahmin community, and then admixed somewhat with another South Indian population (explaining their profiles being closer to the Southern average than that of Northern Brahmins).

Finally, most readers will be aware that I broadly accept the outline in Reconstructing Indian History. But, I do think there were multiple waves of northwest population intrusions into South Asia. In particular, I think the demographically preponderant wave was probably West Asian, while a later group brought some Eastern European ancestry into the mix as well. I think this explains nicely the fact that North Indian Brahmins have a South Indian cline but not a Northeast European cline(compare Bengali Brahmins to Punjabi Brahmins, and youll see what I mean). One possible model is that a very rapid sweep of an Indo-European speaking population may have occurred across the North Indian plain, overlain upon a local set of populations which had an ANI-ASI cline. The Genographic Project reportedly is going to present results which suggest that the Indian caste system pre-dates the arrival of the Aryans. That would comport well with this model, where earlier groups of northwesterners established a caste-like system, which the Aryans, who later formed the core of the twice-born castes, simply suited to their own needs upon arrival. If you look at Zacks results using public data sets a very low proportion of Northeastern European, equivalent to what you see in South India, is found in a few groups:

- The Dravidian Brahui and Baloch

- Tribes and Dalits

- Austro-Asiatic populations

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Genetics’ random truths | Gene Expression

Washington, May 25 : A new study has described how a cell therapy might one day be used not only to quell some common types of persistent and difficult-to-treat pain, but also to cure the conditions that give rise to them.

UCSF scientists, working with mice, focused on treating chronic pain that arises from nerve injury -- so-called neuropathic pain.

In their study, the scientists transplanted immature embryonic nerve cells that arise in the brain during development and used them to make up for a loss of function of specific neurons in the spinal cord that normally dampen pain signals.

A small fraction of the transplanted cells survived and matured into functioning neurons. The cells integrated into the nerve circuitry of the spinal cord, forming synapses and signaling pathways with neighbouring neurons.

As a result, pain hypersensitivity associated with nerve injury was almost completely eliminated, the researchers found, without evidence of movement disturbances that are common side effects of the currently favoured drug treatment.

'Now we are working toward the possibility of potential treatments that might eliminate the source of neuropathic pain, and that may be much more effective than drugs that aim only to treat symptomatically the pain that results from chronic, painful conditions,' said the senior author of the study, Allan Basbaum, PhD, chair of the Department of Anatomy at UCSF.

Those who suffer from chronic pain often get little relief, even from powerful narcotic painkillers, according to Basbaum. Gabapentin, an anticonvulsant first used to treat epilepsy, now is regarded as the most effective treatment for neuropathic pain. However, it is effective for only roughly 30 percent of patients, and even in those people it only provides about 30 percent relief of the pain, he said.

The explanation for neuropathic pain, research showed, is that following injury neurons may be lost, or central nervous system circuitry may change, in ways that are maladaptive, compromising signals that normally help dampen pain. These changes contribute to a state of hyper-excitability, enhancing the transmission of pain messages to the brain and causing normally innocuous stimuli to become painful.

The inhibitory neurons that are damaged in the spinal cord to cause pain hypersensitivity release a molecule that normally transmits inhibitory signals ' the neurotransmitter GABA. A loss of GABA inhibition also is implicated in epilepsy and may play a role in Parkinson's disease. Gabapentin does not mimic GABA, but it helps to compensate for the loss of inhibition that GABA normally would provide.

Basbaum's UCSF colleagues, including study co-authors Arturo Alvarez-Buylla, PhD, and Arnold Kriegstein, MD, PhD, along with Scott Baraban, PhD, had already been experimenting with transplanting immature neurons that make GABA, using the transplanted neurons to bolster inhibitory signals in mouse models to prevent epileptic seizures and to combat a Parkinson's-like disease.

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Cell therapy may ease chronic pain

Washington, May 25 : Researchers have identified a single gene that simultaneously controls inflammation, accelerated aging and cancer.

The principal investigator of the study is Robert J. Schneider, PhD, the Albert Sabin Professor of Molecular Pathogenesis, associate director for translational research and co-director of the Breast Cancer Program at NYU Langone Medical Center.

"This was certainly an unexpected finding," said Schneider.

"It is rather uncommon for one gene to have two very different and very significant functions that tie together control of aging and inflammation. The two, if not regulated properly, can eventually lead to cancer development. It's an exciting scientific find," he stated.

For decades, the scientific community has known that inflammation, accelerated aging and cancer are somehow intertwined, but the connection between them has remained largely a mystery, Dr. Schneider said.

What was known, due in part to past studies by Schneider and his team, was that a gene called AUF1 controls inflammation by turning off the inflammatory response to stop the onset of septic shock. But this finding, while significant, did not explain a connection to accelerated aging and cancer.

When the researchers deleted the AUF1 gene, accelerated aging occurred, so they continued to focus their research efforts on the gene. Now, more than a decade in the making, the mystery surrounding the connection between inflammation, advanced aging and cancer is finally being unravelled.

The current study revealed that AUF1, a family of four related genes, not only controls the inflammatory response, but also maintains the integrity of chromosomes by activating the enzyme telomerase to repair the ends of chromosomes, thereby simultaneously reducing inflammation, preventing rapid aging and the development of cancer, Dr. Schneider explained.

"AUF1 is a medical and scientific trinity. Nature has designed a way to simultaneously turn off harmful inflammation and repair our chromosomes, thereby suppressing aging at the cellular level and in the whole animal."Dr. Schneider said.

With this new information, Dr. Schneider and colleagues are examining human populations for specific types of genetic alterations in the AUF1 gene that are associated with the co-development of certain immune diseases, increased rates of aging and higher cancer incidence in individuals to determine exactly how the alterations manifest and present themselves clinically.

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Gene behind chronic inflammation, accelerated aging and cancer identified

(CBS News) A male birth control pill might not be so far-fetched, now that Scottish scientists have uncovered a key gene essential for sperm development.

The gene - called Katnal1 - is critical for sperm production because it enables sperm to mature in the testes. Thus, if scientists can somehow regulate this gene with a pill, sperm production will be stalled.

"If we can find a way to target this gene in the testes, we could potentially develop a non-hormonal contraceptive," study author Dr. Lee Smith, a reader in genetic endocrinology at the Medical Research Council Center for Reproductive Health at the University of Edinburgh in Scotland, said in a news release.

16 worst birth control mistakes Scientists zap sperm counts with ultrasound: Next male birth control? Fertility killers: 11 things that sock it to sperm

Non-hormonal is important, the researchers say, because some conventional male contraceptives that rely on disrupting production of the male hormone testosterone can cause side effects such as mood swings, acne and irritability. The new treatment would also provide an alternative to popular male birth control methods like condoms and vasectomy.

Katnal1 is needed to regulate scaffold-like structures called tubules, the study showed, which forms part of the cells that provide nutrients to developing sperm. When scientists genetically modified mice to not carry this gene, the mice were infertile. The findings are published in the May 24 issue of PLoS Genetics.

Smith said the effects from a drug targeting this gene would be reversible since it stops the sperm at the maturation stage.

"The important thing is that the effects of such a drug would be reversible because Katnal1 only affects sperm cells in the later stages of development, so it would not hinder the early stages of sperm production and the overall ability to produce sperm," he said.

Dr. Allan Pacey, a senior lecturer in andrology at the University of Sheffield in the U.K., told BBC News that a non-hormonal contraceptive for men has been the "Holy Grail" of research for years.

"The gene described by the research group in Edinburgh sounds like an exciting new possible target for a new male contraceptive, but it may also shed light on why some men are sub-fertile and why their sperm does not work properly," Pacey said.

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Sperm gene discovery may lead to male birth control

ScienceDaily (May 24, 2012) A new type of male contraceptive could be created thanks to the discovery of a key gene essential for sperm development.

The finding could lead to alternatives to the conventional male contraceptives that rely on disrupting the production of hormones, such as testosterone. These treatments can cause side-effects such as irritability, mood swings and acne.

Research, led by the University of Edinburgh, has shown how a gene -- Katnal1 -- is critical to enable sperm to mature in the testes.

If scientists can regulate the Katnal1 gene in the testes, they could prevent sperm from maturing completely, making them ineffective without changing hormone levels.

The research, which is published in the journal PLoS Genetics, could also help in finding treatments for cases of male infertility when malfunction of the Katnal1 gene hampers sperm development.

Dr Lee Smith, Reader in Genetic Endocrinology at the University of Edinburgh's Centre for Reproductive Health, said: "If we can find a way to target this gene in the testes, we could potentially develop a non-hormonal contraceptive.

"The important thing is that the effects of such a drug would be reversible because Katnal1 only affects sperm cells in the later stages of development, so it would not hinder the early stages of sperm production and the overall ability to produce sperm.

"Although other research is being carried out into non-hormonal male contraceptives, identification of a gene that controls sperm production in the way Katnal1 does is a unique and significant step forward in our understanding of testis biology."

Scientists found that male mice that were modified so they did not have the Katnal1 gene were infertile.

Further investigation showed that this was because the gene was needed to allow the sperm to develop and mature.

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New type of male contraceptive? Key gene essential for sperm development discovered

University of Edinburgh researchers say they've identified a gene crucial to sperm development that could be a target for a new form of male birth control.

Oliver Cleve / Getty Images

Condoms or a vasectomy are basically the only contraceptive options currently available for men. But a new gene discovery by infertility researchers at theCentre for Reproductive Healthat the University of Edinburghsuggests that the development of a male contraceptive pill could someday be possible.

While studying infertility in mice, the researchers identified a gene called Katnal1 that appears to be critical during the late stages of sperm production. In the testes,Katnal1 regulates a protein needed by cells that support sperm maturation; without it, sperm do not develop properly and the body disposes of them.

In lab studies, the research team found that mice with genetic mutations that interrupted Katnal1 became infertile.

(MORE:Male Contraception May Be a Reality Sooner than We Think)

Although the research is still in the preliminary stages, the authors say that if a drug could be developed to hinder Katnal1, it could potentially serve as a reversible contraceptive.

If we can find a way to target this gene in the testes, we could potentially develop a non-hormonal contraceptive, researcherDr. Lee Smith of the University of Edinburgh said in a news release.The important thing is that the effects of such a drug would be reversible because Katnal1 only affects sperm cells in the later stages of development, so it would not hinder the early stages of sperm production and the overall ability to produce sperm.

As Dr. Allan Pacey, a senior lecturer in andrology at the University of Sheffield,told BBC News:

The key in developing a non-hormonal contraceptive for men is that the molecular target needs to be very specific for either sperm or other cells in the testicle which are involved in sperm production.

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The New Era of Contraception, Thanks to Gene Discovery?

Your DNA may hold valuable information about your health, but current genetic tests can't improve doctors' ability to predict your risk of major disease.

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Our genome the blueprint for what makes us who we are can provide valuable clues about our health and potentially help us predict our risk for various diseases. But a new study shows that knowledge of our DNA isnt actually as revealing as doctors hoped.

In a report published in the American Journal of Human Genetics, scientists at the Harvard School of Public Health found that incorporating genetic information did not improve doctors ability to predict disease risk above and beyond standard risk factors, including things like family history, lifestyle and behavior. So, having detailed genetic information didnt change doctors prevention or treatment plans.

For most people, your doctors advice before seeing your genetic test for a particular disease will be exactly the same as after seeing your tests, Peter Kraft, a co-author of the paper and an epidemiologist at the Harvard School of Public Health, said in a statement.

The researchers looked at risk factors both genetic and environmental for three common, chronic diseases, breast cancer, Type 2 diabetes and rheumatoid arthritis. All conditions are known to be influenced by some genetic and some lifestyle factors. The researchers wanted to determine whether adding information about the interplay of these factors would improve the sensitivity of disease risk prediction.

(MORE: Genetic Testing for Kids: Is It a Good Idea?)

For breast cancer, the scientists created a simulation that included 15 common genetic variants associated with increased risk of the disease, along with environmental factors, such as a womans age at first period, age when she gave birth to her first child and the number of close relatives affected by breast cancer. For Type 2 diabetes, researchers included 31 genetic variants, as well as lifestyle factors like obesity, physical activity, smoking status and family history of diabetes. Finally, for rheumatoid arthritis, they considered 31 genetic variants and two major lifestyle risk factors smoking and breast-feeding.

The researchers analyzed whether interactions among the genes, or interactions between genes and environmental factors, significantly changed the risk profile for any of these diseases. The disease models generated a variety of statistical combinations of genetic and environmental factors, but none produced any marked improvement in predicting disease risk over the lifestyle factors alone.

So, while genome sequencing has become a popular buzzword in medicine, the researchers conclude that given our current limited ability to interpret the genome or understand the complex interplay between genes and environment, getting genetic tests or whole-genome sequencing may not be as helpful as it could be when it comes to informing our health decisions. Even with the current list of 15 genetic variants associated with breast cancer, for example, scientists cant tell which variants are driving disease or are necessary to cause it, and which are merely along for the ride.

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Why Genetic Tests Don’t Help Doctors Predict Your Risk of Disease

ScienceDaily (May 25, 2012) Chromosomal deletions in DNA often involve just one of two gene copies inherited from either parent. But scientists haven't known how a deletion in one gene from one parent, called a "hemizygous" deletion, can contribute to cancer.

A research team led by Stephen Elledge, a professor in the Department of Genetics at Harvard Medical School, and his post-doctoral fellow Nicole Solimini, has now provided an answer. The most common hemizygous deletions in cancer, their research shows, involve a variety of tumor suppressing genes called STOP genes (suppressors of tumorigenesis and proliferation) that scatter randomly throughout the genome, but that sometimes cluster in the same place on a chromosome. And these clusters, said Elledge, who is also a professor of medicine at Brigham and Women's Hospital, tend to be deleted as a group. "Eliminating the cluster gives a bigger bang for the deletion buck," he said.

This finding is especially interesting in light of the two-hit model of cancer formation, which holds that both copies of a recessive gene need to be inactivated to trigger a biological effect. Thus the loss of a single tumor suppressor copy should have little or no influence on tumor cell proliferation because the remaining copy located on the other chromosome is there to pick up the slack.

Elledge's research points to a different hypothesis, namely that STOP genes in a hemizygous deletion aren't recessive but are instead haploinsufficient, meaning that they depend on two copies to function normally. "If a tumor suppressor is haploinsufficient, then a single gene copy lacks the potency needed to fully restrain tumorigenesis," Elledge explained, who is also a Howard Hughes Medical Institute Investigator. "So by removing clusters of haploinsufficient genes all at once, the cancer cell immediately propels its growth forward without having to wait for the other copies to also be lost."

Angelika Amon, a professor of biology at the Massachusetts of Technology, said she's surprised by the findings. "We've known from a lot of human syndromes that haploinsufficiency is widespread in the development of complex multicellular organisms," she said. "But these data show it's also critical for individual cells and cell proliferation."

The results also offer a different take on the two-hit model in carcinogenesis, Amon said. Being remarkably unstable, cancer cells can delete gene copies at every turn of the corner. If the loss of a single tumor suppressor copy provides no survival advantage for the tumor, then the tumor has no incentive to retain the cell with that deletion. But if the loss of that copy boosts proliferation, then the probability of a second hit later is greatly increased. "So haploinsufficiency is a way for the cancer cell to dramatically accelerate the acquisition of growth beneficial mutations," Amon said.

In other words, all it takes is a 50 percent reduction in gene activity for a cancer cell to grow. "That tells us it's a lot easier to get cancer than we might have hoped," Amon said.

According to Elledge, the number of hemizygotic deletions averages roughly six per tumor, with some tumors -- breast and pancreatic, for instance -- averaging up to ten. Each deletion involves 25 to 40 genes, many of them STOP genes, but also a few GO genes (growth enhancers and oncogenes) that enhance proliferation. That the STOP genes substantially outnumber their GO counterparts is important, Elledge explained, because it means cancer cells can tilt scales toward proliferation without also compromising it at the same time.

"The data reveal a lot of haploinsufficient players that have small effects individually, but large effects in combination," Elledge said. "Unfortunately, it's not easy to see how to take advantage of that chemotherapeutically."

What's important about the results, he emphasized, is that they open up new views on how tumors evolve. Moreso, they underscore the importance of proliferation as a fundamental feature of tumor growth, he added.

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Cancer may require simpler genetic mutations than previously thought

Washington, May 25 : Detailed knowledge about your genetic makeup'the interplay between genetic variants and other genetic variants, or between genetic variants and environmental risk factors'may only change your estimated disease prediction risk for three common diseases by a few percentage points, which is typically not enough to make a difference in prevention or treatment plans, say researchers.

The study by Harvard School of Public Health (HSPH) researchers is the first to revisit claims in previous research that including such information in risk models would eventually help doctors either prevent or treat diseases.

'While identifying a synergistic effect between even a single genetic variant and another risk factor is known to be extremely challenging and requires studies with a very large number of individuals, the benefit of such discovery for risk prediction purpose might be very limited,' said lead author Hugues Aschard, research fellow in the Department of Epidemiology.

Scientists have long hoped that using genetic information gleaned from the Human Genome Project and other genetic research could improve disease risk prediction enough to help aid in prevention and treatment. Others have been skeptical that such 'personalized medicine' will be of clinical benefit.

Still others have argued that there will be benefits in the future, but that current risk prediction algorithms underperform because they don't allow for potential synergistic effects'the interplay of multiple genetic risk markers and environmental factors'instead focusing only on individual genetic markers.

Aschard and his co-authors, including senior author Peter Kraft, HSPH associate professor of epidemiology, examined whether disease risk prediction would improve for breast cancer, type 2 diabetes, and rheumatoid arthritis if they included the effect of synergy in their statistical models. But they found no significant effect by doing so.

'Statistical models of synergy among genetic markers are not 'game changers' in terms of risk prediction in the general population,' said Aschard.

The researchers conducted a simulation study by generating a broad range of possible statistical interactions among common environmental exposures and common genetic risk markers related to each of the three diseases. Then they estimated whether such interactions would significantly boost disease prediction risk when compared with models that didn't include these interactions since, to date, using individual genetic markers in such predictions has provided only modest improvements.

For breast cancer, the researchers considered 15 common genetic variations associated with disease risk and environmental factors such as age of first menstruation, age at first birth, and number of close relatives who developed breast cancer.

For type 2 diabetes, they looked at 31 genetic variations along with factors such as obesity, smoking status, physical activity, and family history of the disease. For rheumatoid arthritis, they also included 31 genetic variations, as well as two environmental factors: smoking and breastfeeding.

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Genetic information may not significantly improve disease risk prediction

ScienceDaily (May 24, 2012) Understanding the genetic diversity within and between populations has important implications for studies of human disease and evolution. This includes identifying associations between genetic variants and disease, detecting genomic regions that have undergone positive selection and highlighting interesting aspects of human population history.

Now, a team of researchers from the UCLA Henry Samueli School of Engineering and Applied Science, UCLA's Department of Ecology and Evolutionary Biology and Israel's Tel Aviv University has developed an innovative approach to the study of genetic diversity called spatial ancestry analysis (SPA), which allows for the modeling of genetic variation in two- or three-dimensional space.

Their study is published online this week in the journal Nature Genetics.

With SPA, researchers can model the spatial distribution of each genetic variant by assigning a genetic variant's frequency as a continuous function in geographic space. By doing this, they show that the explicit modeling of the genetic variant frequency -- the proportion of individuals who carry a specific variant -- allows individuals to be localized on a world map on the basis of their genetic information alone.

"If we know from where each individual in our study originated, what we observe is that some variation is more common in one part of the world and less common in another part of the world," said Eleazar Eskin, an associate professor of computer science at UCLA Engineering. "How common these variants are in a specific location changes gradually as the location changes.

"In this study, we think of the frequency of variation as being defined by a specific location. This gives us a different way to think about populations, which are usually thought of as being discrete. Instead, we think about the variant frequencies changing in different locations. If you think about a person's ancestry, it is no longer about being from a specific population -- but instead, each person's ancestry is defined by the location they're from. Now ancestry is a continuum."

The team reports the development of a simple probabilistic model for the spatial structure of genetic variation, with which they model how the frequency of each genetic variant changes as a function of the location of the individual in geographic space (where the gene frequency is actually a function of the x and y coordinates of an individual on a map).

"If the location of an individual is unknown, our model can actually infer geographic origins for each individual using only their genetic data with surprising accuracy," said Wen-Yun Yang, a UCLA computer science graduate student.

"The model makes it possible to infer the geographic ancestry of an individual's parents, even if those parents differ in ancestry. Existing approaches falter when it comes to this task," said UCLA's John Novembre, an assistant professor in the department of ecology and evolution.

SPA is also able to model genetic variation on a globe.

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Nnew genetic method developed to pinpoint individuals' geographic origin

Option activity on Seattle Genetics, Inc. (SGEN - 20.51) has taken a bullish turn lately, with speculators showing an increased preference for calls over puts. During the past five sessions, traders on the International Securities Exchange (ISE) and Chicago Board Options Exchange (CBOE) have bought to open 2,334 calls on the biotech stock, along with just 96 puts. The resulting five-day call/put volume ratio of 24.31 points to a strong bias for bullish bets over bearish on SGEN.

Broadening our scope to include data from the NASDAQ OMX PHLX (PHLX), SGEN sports a 10-day ISE/CBOE/PHLX put/call volume ratio of 13.45. This ratio ranks higher than 78% of other such readings taken during the previous year, revealing that options traders are purchasing calls over puts at a faster-than-usual pace.

During this same 10-day time frame, open interest at SGEN's June 22.50 call has surged by over 3,000 contracts. This overhead strike is now home to peak front-month call open interest of 5,379 contracts, followed closely by the 5,312 contracts in residence at the June 25 call.

On the charts, SGEN has racked up a healthy gain of 23.5% so far in 2012, easily besting the broader equities market. The shares are currently trading above support at their 10-day and 80-day moving averages, and they're also in the process of establishing a foothold above the round-number $20 level.

However, the stock is trading just below its all-time highs in the $22-22.50 area. This region marked peaks for SGEN throughout the fourth quarter of 2011, and the equity peaked squarely at $21.99 on May 18 before pulling back to trendline support.

With resistance in this area showing no signs of weakening, SGEN is facing an uphill battle as it attempts to chart new record highs. Unfortunately, the glut of out-of-the-money calls at the June 22.50 strike could cause additional trouble for the stock during the short term. As the hedges related to these overhead calls are unwound, the resulting selling pressure could keep SGEN pinned below familiar resistance.

However, that could be exactly what call players are counting on. Short interest accounts for a formidable 27.2% of the stock's float, so it's entirely possible that bears have been buying calls to hedge their shorted shares. This theory is supported by the preference for June 22.50 and 25 calls, since out-of-the-money options provide a cheaper hedge than their in-the-money counterparts.

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Can Seattle Genetics Break Through Looming Resistance?

ScienceDaily (May 24, 2012) Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response.

A recent clinical trial indicated that gene therapy to insert the correct ADA gene in the patient's own bone marrow cells can also lead to a good response.

However, patients were noted to have defects in B cell tolerance, meaning that some B cells that react to antigens from the body fail to be eliminated, leading to an autoimmune response. Dr. Eric Meffre and colleages at Yale University in New Haven, Connecticut and Alessandro Aiuti in Milan, Italy joined together to better understand why patients developed B cell tolerance problems. They found that loss of the ADA gene directly contributes to B cell tolerance problems and that these defects are mostly corrected after gene therapy.

Their results point to a previously unknown role for ADA in B cell response and support the use of gene therapy as an effective treatment option for ADA-deficient severe combined immunodeficiency patients.

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Gene therapy can correct forms of severe combined immunodeficiency, study suggests

23-05-2012 09:53 Dr Ragai Mitry, Head of Liver processing at Kings College London, talks about implanting cells into a patient to replace failing liver function, at an event organised by TAPb Progress in Transplantation, Organ Donation and Research

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Ragai Mitry - Cell Therapy and Liver Disease - Video