14 hours ago by Bendta Schroeder

Before DNA can be transcribed into RNA, an early step in turning the genetic template into protein, the nucleus must first assemble a molecular machine called the pre-initiation complex (PIC), capable of unzipping the double helix and loading the DNA onto the transcription enzyme.

The PIC's dozens of parts are scattered throughout a dense nucleus, packed with DNA, proteins, and other biomolecules. Transcription factors and enzymes must find their way to the transcription site, driven by weak and transient interactions, to be assembled into a living, working machine. The assembly can happen in a matter of seconds.

Weak and transient interactions are thought to propel, not just transcription, but the majority of vital cell processes. In these interactions, biomolecules join and disband easily, allowing them to act collectively and quickly in response to the needs of the cell. But exactly how these interactions work is a mystery.

Ibrahim Ciss, assistant professor of physics, wants to solve this mystery, molecule by molecule, in living cells, in real time.

"This is probably one of the most spectacular examples in nature where the interactions of individual biomolecules give rise to something we don't yet understandthe emergence of life," Ciss says.

Transcription, molecule by molecule

For Ciss to follow transcription as it unfolds, he would have to circumvent the limitations of conventional techniques for studying biomolecules. Biochemical techniques that isolate molecules in test tubes or label them in fixed cells destroy the conditions that make weak and transient interactions possible. Light microscopy can preserve those conditions, but most biomolecules are too small and interact too closely to be distinguished with the light diffraction limit of 200 nanometers.

Instead, Ciss uses tools from physics to illuminate the transcription process at high resolution. For example, he adapted a new fluorescent imaging technique called photoactivation localization microscopy (PALM). PALM activates fluorescent tagging proteins at random and then applies a statistical algorithm to determine the exact location of each protein with nanometer-accuracy within the pixel of light. When Ciss repeats the process at high speed and volume, he can map the precise location of tagged biomolecules as they cluster at a transcription site or trace the path of a single transcription factor as it moves across the nucleus. Furthermore, by developing a temporal correlation method coupled with PALM, called tcPALM, Ciss can get direct access to the clustering dynamics for the first time.

Recently, Ciss used tcPALM to show that the transcriptional enzyme RNA Polymerase II (Pol II) clusters for just a few seconds as transcription begins. The result is surprising, given that it takes several minutes for a full RNA sequence to be synthesized. When Ciss suppressed and then reactivated transcription just before imaging, he observed Pol II clustering at unusually high concentrations. When he blocked Pol II from escaping the promoter and transcribing the DNA, the cluster of Pol II around the promoter didn't dissipate.

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Unraveling the mystery of DNA transcription, one molecule at a time

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PUBLIC RELEASE DATE:

1-Dec-2014

Contact: David Slotnick newsmedia@mssm.edu The Mount Sinai Hospital / Mount Sinai School of Medicine @mountsinainyc

(NEW YORK - December 1, 2014) Kidneys donated by people born with a small variation in the code of a key gene may be more likely, once in the transplant recipient, to accumulate scar tissue that contributes to kidney failure, according to a study led by researchers at the Icahn School of Medicine at Mount Sinai and published today in the Journal of Clinical Investigation.

If further studies prove the variation to cause fibrosis (scarring) in the kidneys of transplant recipients, researchers may be able to use it to better screen potential donors and improve transplant outcomes. Furthermore, uncovering the protein pathways that trigger kidney fibrosis may help researchers design drugs that prevent this disease process in kidney transplant recipients, and perhaps in all patients with chronic kidney disease.

"It is critically important that we identify new therapeutic targets to prevent scarring within transplanted kidneys, and our study has linked a genetic marker, and related protein pathways, to poor outcomes in kidney transplantation," said Barbara Murphy, MD, Chair, Department of Medicine, Murray M. Rosenberg Professor of Medicine (Nephrology) and Dean for Clinical Integration and Population Health at the Icahn School of Medicine at Mount Sinai. "Drug designers may soon be able to target these mechanisms."

A commonly used study type in years, the genome-wide association study (GWAS) looks at differences at many points in the genetic code to see if, across a population, any given variation in the genetic code is found more often in those with a given trait; in the case of the current study, with increased fibrosis in recipients of donated kidneys.

Even the smallest genetic variations, called single nucleotide polymorphisms (SNPs), can have a major impact on a trait by swapping just one of 3.2 billion "letters" making up the human DNA code. The current study found a statistically significant association between SNP identified as rs17319721 in the gene SHROOM3 and progressive kidney scarring (fibrosis) and function loss in a group of kidney donors, mostly of European descent. In many cases, certain SNPs will be more common in families or ethnic groups.

The kidneys filter the blood to remove extra blood sugar and waste products that trickle down the kidney tubes to become urine, while re-absorbing key nutrients. The build-up of scar tissue in these delicate structures over time interferes with proper renal function.

Chronic kidney disease already affects 10 percent of US adults and its prevalence is increasing. Along with leading to kidney failure in many cases, chronic kidney disease increases the risk of cardiovascular disease. Fibrosis in kidney tubules is a common pathogenic process for many types of chronic kidney disease, and a central part of chronic disease in donated kidneys (chronic allograft nephropathy, or CAN).

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Genetic marker may help predict success of kidney transplants

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Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from the largest analysis to date of genetic mutations in this aggressive form of breast cancer. The results of the research appear in the Journal of Clinical Oncology.

"Clinicians need to think hard about screening all their triple-negative patients for mutations because there is a lot of value in learning that information, both in terms of the risk of recurrence to the individual and the risk to family members. In addition, there may be very specific therapeutic benefits of knowing if you have a mutation in a particular gene," says Fergus Couch, Ph.D., professor of laboratory medicine and pathology at Mayo Clinic and lead author of the study.

The study found that almost 15 percent of triple-negative breast cancer patients had deleterious (harmful) mutations in predisposition genes. The vast majority of these mutations appeared in genes involved in the repair of DNA damage, suggesting that the origins of triple-negative breast cancer may be different from other forms of the disease. The study also provides evidence in support of the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing of triple-negative breast cancer patients.

Triple-negative breast cancer is a specific subset of breast cancer that makes up about 12 to 15 percent of all cases. The disease is difficult to treat because the tumors are missing the estrogen, progesterone and HER-2 receptors that are the target of the most common and most effective forms of therapy. However, recent studies have suggested that triple-negative breast cancer patients might harbor genetic mutations that make them more likely to respond to alternative treatments like cisplatin, a chemotherapy agent, or PARP inhibitors, anti-cancer agents that inhibit the poly (ADP-ribose) polymerase (PARP) family of enzymes.

Dr. Couch and his colleagues decided to assess the frequency of mutations in predisposition genes in patients with triple-negative breast cancer to further delineate the role of genetic screening for individuals with the disease. The researchers sequenced DNA from 1,824 triple-negative breast cancer cases seen at 12 oncology clinics in the U.S. and Europe, as part of the Triple-Negative Breast Cancer Consortium.

They found deleterious mutations in almost 15 percent of triple-negative breast cancer patients. Of these, 11 percent had mutations in the BRCA1 and BRCA2 genes and the rest had mutations in 15 other predisposition genes, including the DNA repair genes PALB2, BARD1, and RAD51C. No mutations were found in predisposition genes involved in other processes like the cell cycle.

"Triple-negative breast cancers are different from all the other breast cancers," says Dr. Couch. "Other studies have suggested that this form of the disease might be associated with some defect in DNA repair, and our study verifies that. Our findings generate a whole new set of hypotheses about how triple-negative breast cancer might be arising, which could give us better ideas for prevention or new therapies for this disease."

The study also found that individuals with mutations in predisposition genes were diagnosed at an earlier age and had higher-grade tumors than those without mutations. The researchers used their dataset to assess whether the current screening guidelines would identify all the triple-negative individuals with mutations in the two most common predisposition genes, BRCA1 and BRCA2.

They found that the NCCN guidelines, which recommend screening when there is a family history of cancer or a diagnosis under age 60, missed only 1 percent of patients carrying mutations. In contrast, the UK's National Institute for Clinical Excellence (NICE) guidelines, which use the probability of actually finding a mutation to determine who should be tested, missed 24 percent of mutation carriers.

"Our results confirm that the NCCN guidelines are good, and provide evidence to support what they have recommended," says Dr. Couch. "But we think the NICE guidelines could be expanded to include more of the triple-negative breast cancer patients with mutations."

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Triple-negative breast cancer patients should undergo genetic screening

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PUBLIC RELEASE DATE:

1-Dec-2014

Contact: Joe Dangor newsbureau@mayo.edu 507-284-5005 Mayo Clinic @MayoClinic

ROCHESTER, Minn. -- Most patients with triple-negative breast cancer should undergo genetic testing for mutations in known breast cancer predisposition genes, including BRCA1 and BRCA2, a Mayo Clinic-led study has found. The findings come from the largest analysis to date of genetic mutations in this aggressive form of breast cancer. The results of the research appear in the Journal of Clinical Oncology.

"Clinicians need to think hard about screening all their triple-negative patients for mutations because there is a lot of value in learning that information, both in terms of the risk of recurrence to the individual and the risk to family members. In addition, there may be very specific therapeutic benefits of knowing if you have a mutation in a particular gene," says Fergus Couch, Ph.D., professor of laboratory medicine and pathology at Mayo Clinic and lead author of the study.

The study found that almost 15 percent of triple-negative breast cancer patients had deleterious (harmful) mutations in predisposition genes. The vast majority of these mutations appeared in genes involved in the repair of DNA damage, suggesting that the origins of triple-negative breast cancer may be different from other forms of the disease. The study also provides evidence in support of the National Comprehensive Cancer Network (NCCN) guidelines for genetic testing of triple-negative breast cancer patients.

Triple-negative breast cancer is a specific subset of breast cancer that makes up about 12 to 15 percent of all cases. The disease is difficult to treat because the tumors are missing the estrogen, progesterone and HER-2 receptors that are the target of the most common and most effective forms of therapy. However, recent studies have suggested that triple-negative breast cancer patients might harbor genetic mutations that make them more likely to respond to alternative treatments like cisplatin, a chemotherapy agent, or PARP inhibitors, anti-cancer agents that inhibit the poly (ADP-ribose) polymerase (PARP) family of enzymes.

Dr. Couch and his colleagues decided to assess the frequency of mutations in predisposition genes in patients with triple-negative breast cancer to further delineate the role of genetic screening for individuals with the disease. The researchers sequenced DNA from 1,824 triple-negative breast cancer cases seen at 12 oncology clinics in the U.S. and Europe, as part of the Triple-Negative Breast Cancer Consortium.

They found deleterious mutations in almost 15 percent of triple-negative breast cancer patients. Of these, 11 percent had mutations in the BRCA1 and BRCA2 genes and the rest had mutations in 15 other predisposition genes, including the DNA repair genes PALB2, BARD1, and RAD51C. No mutations were found in predisposition genes involved in other processes like the cell cycle.

"Triple-negative breast cancers are different from all the other breast cancers," says Dr. Couch. "Other studies have suggested that this form of the disease might be associated with some defect in DNA repair, and our study verifies that. Our findings generate a whole new set of hypotheses about how triple-negative breast cancer might be arising, which could give us better ideas for prevention or new therapies for this disease."

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Triple-negative breast cancer patients should undergo genetic screening: Mayo Clinic

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Forensic Medicine - Dr.Abeer Zayed - Forensic genetics
Subject : Forensic Medicine Wednesday - 26th, November 2014 Contents :- - forensic genetics.

By: Kasr Al-Ainy - 4th Year (2011-2017) Channel

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Forensic Medicine - Dr.Abeer Zayed - Forensic genetics - Video

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CA2AK Genetics OG Chem F3 Day 40 something
18 over channel designed for cannabis patients and adults. I am a MMMPp patient and caregiver in full compliance.

By: BolagnaSheetsMD .

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CA2AK Genetics OG Chem F3 Day 40 something - Video

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knowledge center home stem cell research all about stem cells what are stem cells?

Stem cells are a class of undifferentiated cells that are able to differentiate into specialized cell types. Commonly, stem cells come from two main sources:

Both types are generally characterized by their potency, or potential to differentiate into different cell types (such as skin, muscle, bone, etc.).

Adult or somatic stem cells exist throughout the body after embryonic development and are found inside of different types of tissue. These stem cells have been found in tissues such as the brain, bone marrow, blood, blood vessels, skeletal muscles, skin, and the liver. They remain in a quiescent or non-dividing state for years until activated by disease or tissue injury.

Adult stem cells can divide or self-renew indefinitely, enabling them to generate a range of cell types from the originating organ or even regenerate the entire original organ. It is generally thought that adult stem cells are limited in their ability to differentiate based on their tissue of origin, but there is some evidence to suggest that they can differentiate to become other cell types.

Embryonic stem cells are derived from a four- or five-day-old human embryo that is in the blastocyst phase of development. The embryos are usually extras that have been created in IVF (in vitro fertilization) clinics where several eggs are fertilized in a test tube, but only one is implanted into a woman.

Sexual reproduction begins when a male's sperm fertilizes a female's ovum (egg) to form a single cell called a zygote. The single zygote cell then begins a series of divisions, forming 2, 4, 8, 16 cells, etc. After four to six days - before implantation in the uterus - this mass of cells is called a blastocyst. The blastocyst consists of an inner cell mass (embryoblast) and an outer cell mass (trophoblast). The outer cell mass becomes part of the placenta, and the inner cell mass is the group of cells that will differentiate to become all the structures of an adult organism. This latter mass is the source of embryonic stem cells - totipotent cells (cells with total potential to develop into any cell in the body).

In a normal pregnancy, the blastocyst stage continues until implantation of the embryo in the uterus, at which point the embryo is referred to as a fetus. This usually occurs by the end of the 10th week of gestation after all major organs of the body have been created.

However, when extracting embryonic stem cells, the blastocyst stage signals when to isolate stem cells by placing the "inner cell mass" of the blastocyst into a culture dish containing a nutrient-rich broth. Lacking the necessary stimulation to differentiate, they begin to divide and replicate while maintaining their ability to become any cell type in the human body. Eventually, these undifferentiated cells can be stimulated to create specialized cells.

Stem cells are either extracted from adult tissue or from a dividing zygote in a culture dish. Once extracted, scientists place the cells in a controlled culture that prohibits them from further specializing or differentiating but usually allows them to divide and replicate. The process of growing large numbers of embryonic stem cells has been easier than growing large numbers of adult stem cells, but progress is being made for both cell types.

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What are Stem Cells? - Medical News Today

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Okayama City, Japan (PRWEB UK) 2 December 2014

Researchers at Okayama University Graduate School of Medicine and Kyorin University School of Medicine have successfully generated a kidney-like structure from just a single cell.

It has been predicted that the kidney will be among the last organs successfully regenerated in vitro due to its complex structure and multiple functions, states Shinji Kitamura, Hiroyuki Sakurai and Hirofumi Makino at the beginning of their latest report, before continuing to describe results suggesting a far more positive prognosis for the pace of kidney regeneration research. Despite the anatomical challenges posed by the kidney anatomy and the complexities understood from embryonic kidney development processes, the researchers have demonstrated that kidney-like structures can be generated from just a single adult kidney stem cell.

In embryos, kidney development requires two types of primordial cells cells at the earliest stage of development. However by generating kidney-like structures from a single type of kidney stem cell the researchers provide evidence for differences in the organ development in adults and embryos.

Kitamura, Sakurai and Makino researchers from Okayama and Kyorin Universities - took kidney stem cells from the different kidney components of microdissected adult rats and grew them in culture. A method for growing three-dimensional cell clusters showed that kidney-like structures could form so long as the initial cell cluster was large enough.

The minimum cluster size required might suggest that not all the kidney stem cells have stem cell characteristics. Therefore the researchers cloned kidney stem cells and confirmed that kidney-like structures still formed from the clusters of clone cells after a few weeks.

The researchers add, Although the physiological roles of such cells are currently unclear, analogous cells in the adult human kidney would be a valuable resource for the regeneration of kidneys in vitro.

Background Kidney structure There are more than a dozen distinct types of cell in the kidneys. The basic structural unit of the kidney is the nephron, which filters the blood to regulate the concentration of water and soluble substances such as sodium salts. Each nephron comprises several well-defined segments: the glomerulus, the proximal tubule, the loop of Henle, the distal tube and the collecting duct.

In embryo kidney organogenesis two primordial cell types are required to differentiate into all the different cell types in the kidney: metanephric mesenchymal cells and uteric bud cells. Kitamura, Sakurai and Makino produced kidney cells that could differentiate into a kidney-like structure without these primordial cell types, suggesting these are adult kidney stem cells.

Obtaining kidney stem cells The researchers microdissected adult rat kidneys into segments from the glomeruli, proximal convoluted tubule (S1/PCT), proximal straight tubule (S2, S3), medullary thick ascending limb of Henles loop and the collecting duct. They then grew the cells on mouse mesenchymal cells. While there is no known single biomarker for adult kidney stem cells, immunohistochemical anaylysis identified a number of markers in the kidney stem cells- that are found in embryonic or adult kidneys.

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Kidney organ regeneration research leaps forward

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- As improved R&D climate supports development, stem cell therapeutics market expected to boom globally

KUALA LUMPUR, Malaysia, Dec. 2, 2014 /PRNewswire/ -- Stem cells have the potential to transform healthcare by enabling the cost-effective treatment of many conditions that currently have poor treatment options. This will be particularly important for the rapidly growing aged population as well as the rising proportion of patients with neurological and chronic conditions. Stem cells may enable regenerative treatments that avoid traditional drugs, devices and surgery for these patient groups.

New analysis from Frost & Sullivan, Analysis of the Global Stem Cell Market, finds that the market earned revenues of US$40.01 billion in 2013 and estimates this to nearly triple to US$117.66 billion in 2018 at a compound annual growth rate of 24.1 percent. The study covers human adult and embryonic stem cells. While North America is the market leader with more than half of the global stem cell market share, the Asia-Pacific is expected to record the highest compound annual growth rate (CAGR) during the forecast period. In fact, the APAC stem cell market, which was valued at US$5.60 billion in 2013, is projected to increase to US$18.71 billion by 2018.

For complimentary access to more information on this research, please visit: http://corpcom.frost.com/forms/APAC_PR_DJeremiah_P805-52_10Nov14.

"The overall R&D funding for stem cell research has increased significantly in the past 5 to 10 years and will reach desired heights in the years to come," said Frost & Sullivan Healthcare Consultant Sanjeev Kumar. "The number of venture capital firms investing in stem cell research has risen and government funding agencies have begun to acknowledge the future benefits of the stem cell industry."

While the stiff regulations that previously guarded stem cell research have begun to relax, other legal and ethical issues continue to hamper research. For instance, research institutes that adopt policies addressing concerns surrounding the use of human embryonic tissues may hinder the overall research process, which usually involves several collaborative enterprises. Other market challenges include insurers' reluctance to pay for expensive stem cell therapies and the likelihood that patients themselves will be unable to afford these treatments.

"The global stem cell industry is in an early stage of development, with a handful of small and large participants," noted Kumar. "In the near future, mergers, acquisitions and collaborations will accelerate growth, with multinational companies and larger pharmaceutical companies playing a key role in facilitating these activities. As the market evolves, standards and new regulatory frameworks are expected to ease market challenges."

In the meantime, the market's growth potential is being underlined by promising results from clinical trials and the escalating importance of stem cell banking services across the globe. Eventually, the technology is expected to play a crucial function in various areas including neurological disorders, orthopaedics, cancer, haematological disorders, injuries and wound care, cardiovascular diseases, spinal cord injuries, diabetes, incontinence and liver disorders. Therapeutics manufacturers are also likely to explore the relevance of stem cells in other areas and combine them with existing applications to enhance treatment options.

Analysis of the Global Stem Cell Market is part of the Life Sciences (http://www.lifesciences.frost.com) Growth Partnership Service program. Frost & Sullivan's related studies include: Analysis of the Global Infectious Disease Diagnostics Market, Western European Companion Diagnostics Market, Analysis of the Global Biosimilars Market, and Analysis of the US Retinal Therapeutics Market. All studies included in subscriptions provide detailed market opportunities and industry trends evaluated following extensive interviews with market participants.

About Frost & Sullivan

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Stem Cells to Revolutionise the Future of Diagnostic and Therapeutic Medicine

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MIAMI (PRWEB) December 01, 2014

GlobalStemCellsGroup.com has announced plans to team with Portal Medestetica, the largest physician portal in Lain America, to launch Portalstemcells.com, a new portal dedicated to providing physicians in Spain and Latin America with relevant information, clinical research news and products relating to stem cells and regenerative medicine.

The new collaboration between Global Stem Cells Group and Portal Medestetica will answer a growing need to expand the reach of high-impact news, studies and breakthroughs, and significantly advance the clinical utilization of stem cell research and clinical trials throughout Latin America. The Portalstemcells.com site is designed to help promote the latest state-of-the-art developments in regenerative medicine as they become available, and to share educational content with physicians throughout the region.

Portalstemcells.com will be the ideal vehicle to promote education and cutting-edge science throughout the region, says Ricardo de Cubas, founder of Global Stem Cells Group. The potential of regenerative medicine and stem cells therapies inspiring the medical community to find real opportunities to repair or replace tissue damaged from disease, relieve pain and provide the potential for curing chronic diseases where no cure existed before.

The Portalstemcells.com site is aimed at fostering growth and ethical development in the fast-moving field of stem cell medicine by filling a gap in the resources available throughout Latin America. The goal is to elevate the delivery of stem cell science in order to impact the lives of many patients worldwide.

For more information visit the Global Stem Cells website, email bnovas(at)regenestem(dot)com, or call 305-224-1858.

About the Global Stem Cells Group:

Global Stem Cells Group, Inc. is the parent company of six wholly owned operating companies dedicated entirely to stem cell research, training, products and solutions. Founded in 2012, the company combines dedicated researchers, physician and patient educators and solution providers with the shared goal of meeting the growing worldwide need for leading edge stem cell treatments and solutions.

With a singular focus on this exciting new area of medical research, Global Stem Cells Group and its subsidiaries are uniquely positioned to become global leaders in cellular medicine.

Global Stem Cells Groups corporate mission is to make the promise of stem cell medicine a reality for patients around the world. With each of GSCGs six operating companies focused on a separate research-based mission, the result is a global network of state-of-the-art stem cell treatments.

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Global Stem Cells Group and Portal Medestetica to Launch Latin American Stem Cell Portal

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Kyle wiggling his left thumb 16 months after spinal cord injury 3 months after nerve transfer
via YouTube Capture.

By: Kaylan Reese

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Kyle wiggling his left thumb 16 months after spinal cord injury & 3 months after nerve transfer - Video

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PUBLIC RELEASE DATE:

1-Dec-2014

Contact: Kat J. McAlpine katherine.mcalpine@wyss.harvard.edu 617-432-8266 Broad Institute of MIT and Harvard @broadinstitute

Boston and Cambridge, Mass., December 1, 2014 -- The Broad Institute, Harvard University, the Massachusetts Institute of Technology and Editas Medicine have entered into a worldwide license agreement to grant Editas access to intellectual property related to certain genome editing technology for the development of human therapeutic applications.

The agreement relates to technology that engineers the CRISPR-Cas9 system--a naturally-occurring part of the bacterial immune system. Researchers at Harvard Medical School, the Wyss Institute for Biologically Inspired Engineering at Harvard University, Broad Institute, MIT, the McGovern Institute for Brain Research at MIT, and Harvard University Faculty of Arts and Sciences (FAS), have optimized the CRISPR-Cas9 system to allow for insertion, replacement, and regulation of targeted genes in higher organisms, with the potential to one day be used in humans. This technology has wide-ranging therapeutic potential and could lay the groundwork for treating diseases where a gene's expression needs to be altered (such as turning down CCR5 in HIV), or where a mutation needs to be repaired (such as sickle cell diseases or hemophilia). In addition to their therapeutic implications, CRISPR-Cas9 systems enable scientists to modify genes and better understand the biology of living cells and organisms.

"The Broad, MIT, and Harvard share the goal of developing innovative technologies such as CRISPR-Cas9 and promoting their translation to benefit patients," said Eric Lander, president and director of the Broad Institute. "We're committed to making these technologies broadly available for research and also ensuring that therapeutic development - bringing this technology to the clinic - has the best chance of success."

The agreement includes a mechanism to ensure that no promising target genes will be neglected; genes that are not being pursued by Editas will be made available for licensing to other parties so that new medicines based on this technology can be developed for any disease that could be treated by this approach. Broad Institute, MIT, and Harvard University partners have made CRISPR-Cas9 technology broadly available to the research community, and have freely granted licenses to academic scientists, and non-exclusively to industry partners, for development of research tools and reagents and will continue to do so.

Also included in the agreement are additional technologies relating to engineering and optimization of transcription activator-like effector (TALE) proteins that can also be programmed to target and modify specific genes, as well as a novel protein-based drug delivery system, which could potentially achieve up to one thousand-fold more effective drug delivery than conventional methods.

"We have already seen how the CRISPR molecular system has proven to be so powerful in basic research," said Jeffrey S. Flier, Dean of Harvard Medical School. "The potential for this approach to translate into new ways to treat human conditions that have proved vexing is compelling and warrants new and innovative collaborations among academia and industry."

"The CRISPR-Cas9 technology represents yet another great example of how new insights into nature's design principles can be rapidly leveraged to develop new engineering innovations, in this case genome reengineering methods that can be used to create an entirely new class of targeted therapeutics", said Wyss Institute Founding Director Donald Ingber, M.D., Ph.D. "This breakthrough also demonstrates our collective commitment to accelerate the transition from fundamental discovery to clinical application."

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Broad Institute, Harvard, and MIT license CRISPR-Cas9 technology to Editas

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The paternally inherited copy of Ube3a is intact but silenced in neurons (grey neuron, green chromosomal region). Researchers are examining ways to activate the gene to ameliorate Angelman's syndrome.

A potential therapy for Angelman syndrome, a baffling genetic disease that impairs intellectual development, has been proposed by scientists including researchers at Isis Pharmaceuticals.

The treatment, tested in mice, activates a gene that restores some of the neurological activity reduced in Angelman syndrome, which affects an estimated 1 in 12,000 to 1 in 20,000 people.

A paper describing the research was published Dec. 1 in the journal Nature. The first authors are Linyan Meng of Baylor College of Medicine and Amanda J. Ward of Isis. Senior authors are Arthur L. Beaudet of Baylor and Frank Rigo of Isis. Seung Chun and C. Frank Bennett of Isis also authored the paper.

The therapy consisted of an antisense compound delivered to a mouse model of Angelman syndrome. Treated mice experienced less cognitive impairment than control mice, the study reported. Moreover, the scientists say they have developed a "clinically feasible" approach that may benefit people with the disorder.

Carlsbad-based Isis specializes in antisense drugs and is testing them in a wide range of diseases, including neurological ailments. The biotech company recently started a second Phase 3 trial of its drug for spinal muscular atrophy, a serious and sometimes fatal genetic disease that causes spinal motor neurons to die, reducing the ability to move.

A family describes life with a young boy who has Angelman syndrome.

Angelman children are characteristically happy, prone to frequent smiling and laughter. But they exhibit profound disabilities. They have reduced cognitive skills, either speak very little or not at all; have movement problems, may not be able to walk, sleep little, and often have seizures. The movement and mood features originally caused Angelman syndrome to be dubbed "happy puppet syndrome," a term that fell out of favor because of its disparaging overtones. Although they won't grow up to live independently, the children function at various levels.

The genetic cause of Angelman syndrome is loss of function in the maternally inherited copy of gene called UBE3A that's involved in neurological development. The paternal copy of the gene is silenced in neurons, due to imprinting, so if the mother's copy is missing the gene will not function at all in those neurons.

Loss of the maternal UBE3A gene's function can happen in several ways. The most common is deletion of a piece of chromosome 15 containing the gene. Other causes are mutation of the gene or a stretch of DNA called the imprinting center; or the child inherits two paternal copies of the gene and no maternal copy. Loss of the paternal UBE3A gene causes another neurological disorder, Prader-Willi syndrome.

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New Angelman syndrome therapy proposed

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PUBLIC RELEASE DATE:

27-Nov-2014

Contact: Rebecca Winkels rebecca.winkels@helmholtz-hzi.de 49-531-618-11403 Helmholtz Centre for Infection Research @Helmholtz_HZI

This news release is available in German.

Genome engineering with the RNA-guided CRISPR-Cas9 system in animals and plants is changing biology. It is easier to use and more efficient than other genetic engineering tools, thus it is already being applied in laboratories all over the world just a few years after its discovery. This rapid adoption and the history of the system are the core topics of a review published in the renowned journal Science. The review was written by the discoverers of the system Prof. Emmanuelle Charpentier, who works at the Helmholtz Centre for Infection Research (HZI) and is also affiliated to the Hannover Medical School and Ume University, and Prof. Jennifer Doudna from the University of California, Berkeley, USA.

Many diseases result from a change of an individual's DNA - the letter code that genes consist of. The defined order of the letters within a gene usually codes for a protein. Proteins are the workforce of our body and responsible for almost all processes needed to keep us running. When a gene is altered, its protein product may lose its normal function and disorders can result. "Making site-specific changes to the genome therefore is an interesting approach to preventing or treating those diseases", says Prof Emmanuelle Charpentier, head of the HZI research department "Regulation in Infection Biology". Due to this, ever since the discovery of the DNA structure, researchers have been looking for a way to alternate the genetic code.

First techniques like zinc finger nucleases and synthetic nucleases called TALENs were a starting point but turned out to be expensive and difficult to handle for a beginner. "The existing technologies are dependent on proteins as address labels and customizing new proteins for any new change to introduce in the DNA is a cumbersome process", says Charpentier. In 2012, while working at Ume University, she described what is now revolutionising genetic engineering: the CRISPR-Cas9 system.

It is based on the immune system of bacteria and archaea but is also of value in the laboratory. CRISPR is short for Clustered Regularly Interspaced Palindromic Repeats, whereas Cas simply stands for the CRISPR-associated protein. "Initially we identified a novel RNA, namely tracrRNA, associated to the CRISPR-Cas9 system, which we published in 2011 in Nature. We were excited when Krzysztof Chylinski from my laboratory subsequently confirmed a long term thinking: Cas9 is an enzyme that functions with two RNAs", says Charpentier.

Together the system has the ability to detect specific sequences of letters within the genetic code and to cut DNA at a specific point. In this process the Cas9 protein functions as the scissors and an RNA snippet as the address label ensuring that the cut happens in the right place. In collaboration with Martin Jinek and Jennifer Doudna, the system could be simplified to use it as a universal technology. Now the user would just have to replace the sequence of this RNA to target virtually any sequence in the genome.

After describing the general abilities of CRISPR-Cas9 in 2012 it was shown in early 2013 that it works as efficiently in human cells as it does in bacteria. Ever since, there has been a real hype around the topic and researchers from all over the world have suggested new areas in which the new tool can be used. The possible applications extend from developing new therapies for genetic disorders caused by gene mutations to changing the pace and course of agricultural research in the future all the way to a possible new method for fighting the AIDS virus HIV.

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Revolutionizing genome engineering

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1 hour ago Streptococcus pyogenes is one of the bacteria in which the HZI scientists have studied the CRISPR-Cas system. Credit: HZI / M. Rohde

Genome engineering with the RNA-guided CRISPR-Cas9 system in animals and plants is changing biology. It is easier to use and more efficient than other genetic engineering tools, thus it is already being applied in laboratories all over the world just a few years after its discovery. This rapid adoption and the history of the system are the core topics of a review published in the renowned journal Science. The review was written by the discoverers of the system Prof. Emmanuelle Charpentier, who works at the Helmholtz Centre for Infection Research (HZI) and is also affiliated to the Hannover Medical School and Ume University, and Prof. Jennifer Doudna from the University of California, Berkeley, USA.

Many diseases result from a change of an individual's DNA - the letter code that genes consist of. The defined order of the letters within a gene usually codes for a protein. Proteins are the workforce of our body and responsible for almost all processes needed to keep us running. When a gene is altered, its protein product may lose its normal function and disorders can result. "Making site-specific changes to the genome therefore is an interesting approach to preventing or treating those diseases", says Prof Emmanuelle Charpentier, head of the HZI research department "Regulation in Infection Biology". Due to this, ever since the discovery of the DNA structure, researchers have been looking for a way to alternate the genetic code.

First techniques like zinc finger nucleases and synthetic nucleases called TALENs were a starting point but turned out to be expensive and difficult to handle for a beginner. "The existing technologies are dependent on proteins as address labels and customizing new proteins for any new change to introduce in the DNA is a cumbersome process", says Charpentier. In 2012, while working at Ume University, she described what is now revolutionising genetic engineering: the CRISPR-Cas9 system.

It is based on the immune system of bacteria and archaea but is also of value in the laboratory. CRISPR is short for Clustered Regularly Interspaced Palindromic Repeats, whereas Cas simply stands for the CRISPR-associated protein. "Initially we identified a novel RNA, namely tracrRNA, associated to the CRISPR-Cas9 system, which we published in 2011 in Nature. We were excited when Krzysztof Chylinski from my laboratory subsequently confirmed a long term thinking: Cas9 is an enzyme that functions with two RNAs", says Charpentier.

Together the system has the ability to detect specific sequences of letters within the genetic code and to cut DNA at a specific point. In this process the Cas9 protein functions as the scissors and an RNA snippet as the address label ensuring that the cut happens in the right place. In collaboration with Martin Jinek and Jennifer Doudna, the system could be simplified to use it as a universal technology. Now the user would just have to replace the sequence of this RNA to target virtually any sequence in the genome.

After describing the general abilities of CRISPR-Cas9 in 2012 it was shown in early 2013 that it works as efficiently in human cells as it does in bacteria. Ever since, there has been a real hype around the topic and researchers from all over the world have suggested new areas in which the new tool can be used. The possible applications extend from developing new therapies for genetic disorders caused by gene mutations to changing the pace and course of agricultural research in the future all the way to a possible new method for fighting the AIDS virus HIV.

"The CRISPR-Cas9 system has already breached boundaries and made genetic engineering much more versatile, efficient and easy", Charpentier says. "There really does not seem to be a limit in the applications."

Explore further: RCas9: A programmable RNA editing tool

Viruses cannot only cause illnesses in humans, they also infect bacteria. Those protect themselves with a kind of 'immune system' which simply put consists of specific sequences in the genetic material ...

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Revolutionizing genome engineering: Review on history and future of the CRISPR-Cas9 system published

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

1-Dec-2014

Contact: Emmanouil Dermitzakis emmanouil.dermitzakis@unige.ch 41-223-795-483 Universit de Genve @UNIGEnews

Personalized medicine uses methods of molecular analysis, especially genetic sequencing and transcription, in order to simultaneously identify genetic mutations to evaluate each individual's risk of contracting a given disease. It seems that there is more than a single mechanism at hand, as proven by the work of a team of geneticists at the University of Geneva's (UNIGE) Faculty of Medicine, and the Swiss Institute for Bioinformatics (SIB). They have sequenced the RNA of 400 pairs of twins; with this information, they can quantify the roles of both genetic and environmental context on the expression of genes. They concluded that establishing the list of mutations present in a person's genome is not sufficient to predict that person's future health. The study can be found in the latest online edition of Nature Genetics.

What influence does the environment have on genes activity? How do certain types of mutations interact with one another in a single individual? These are the complex interactions that Emmanouil Dermitzakis, Louis-Jeantet Professor in the Department of Genetic Medicine and Development at the UNIGE's Faculty of Medicine, and his team have sought to understand, working together with scientists from Kings College London and the Wellcome Trust Sanger Institute.

Although we know that carriers of the same mutation do not necessarily both develop the same disease, how much of this discrepancy is due to genetics and how much is environmental remains unclear. Understanding how a mutation behaves when confronted with another mutation, on the one hand, and assessing the person's environmental context, on the other, forms the basis of the complex challenge of true personalized medicine.

Twins that are similar, but not identical

In Geneva, the scientists sequenced the RNA of 400 pairs of monozygotic and dizygotic twins and combined this information with genetic variations that had already been identified in these subjects. In this large sample, they identified a significant series of mutations that controlled gene expression. The researchers discovered that the influence that purely genetic (between genes) and environmental interactions (between a gene and the environment) had on gene expression were both substantial. They conclude that genetic or environmental context contributes significantly to the way in which a person's genetic composition is expressed, as well as to their risk of developing certain diseases.

The researchers used the differences between monozygotic twins, whose genomes are identical, to identify mutations that interact with the environment. Dizygotic twins, who only share half of their genome, but who were raised in the same environment, allowed researchers to separate purely genetic effects from effects caused by the similar environmental context in which the twins were raised.

We have discovered that the genetic and environmental contexts of a mutation have a much greater influence on its expression in a given individual than we previously thought, emphasized Dr Alfonso Buil, lead author of this study. Understanding the architecture of genetic expression constitutes an essential step in understanding the genetic bases of complex diseases, he adds.

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Genes and environment: Complex interactions at the heart of personalized medicine

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Latest Hair Loss Research : Stem Cell Therapy and Stem Cell Nutrition for Hair Loss
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A decade ago, a dream team of researchers from Pittsburgh to South Korea claimed a medical invention that promised to reshape a culture war.

The scientists said they custom-designed stem cells from cloned human embryos. The scientific breakthrough was celebrated around the globe.

Then the bottom fell out.

A scandal erupted over fabricated data, and University of Pittsburgh biologist Gerald Schatten was forced to pull back the findings. Critics cast the 2004 discovery as a farce, a high-profile fraud that forced the journal Science into a rare retraction in January 2006.

Eight years later, the push to use stem cells as a medical treatment continues, but scholars balk at the suggestion that anyone is trying to make genetically identical individuals.

We're not here to clone human beings, for gosh sakes, said John Gearhart, a stem cell researcher and University of Pennsylvania professor in regenerative medicine. Instead, he said, scholars are working to manipulate stem cells to produce heart cells for cardiac patients, brain cells for neurological patients and other custom transplants that could match a person's genetic makeup.

Schatten's work continues at the Magee-Womens Research Institute at Pitt, where university officials cleared him of scientific misconduct, and he remains a vice chairman for research development. He focuses on educating and training physician-scientists and other scientists, a school spokeswoman wrote in a statement. She said Schatten was traveling and was unable to speak with the Tribune-Review.

Researchers have turned the onetime myth of developing stem cells into reality.

At the Oregon Health and Science University, researchers succeeded by blending unfertilized human eggs with body tissue to mold stem cells. Scholars say the cells could let doctors grow customized organs for transplants and other therapies.

The approach engineered by biologist Shoukhrat Mitalipov's research team last year in Portland is among two that scientists are using to forge laboratory-made stem cells the so-called master cells that can transform into other body parts without relying on donated human embryos. Federal law tightly controls the use of taxpayer money for embryonic research.

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RFU proposed a ground-breaking research programme two years ago into a reported link between a specific gene and the incidence of concussion England stars rejected the move to introduce genetic testing Players were concerned it would lead to an invasion of privacy A delegation from RFU's medical department had meet with club representatives urging them to participate in the study

By Sam Peters For Mail On Sunday

Published: 17:59 EST, 29 November 2014 | Updated: 18:17 EST, 29 November 2014

England's top rugby stars have blocked a move to introduce genetic testing of all professional players over fears of a Big Brother-style invasion of privacy.

The Mail on Sunday have learned that senior figures from within the RFU proposed a ground-breaking research programme two years ago into a reported link between a specific gene and the incidence of concussion.

A high-level delegation from the RFUs medical department - including head of medicine Dr Simon Kemp - presented to club representatives at the Rugby Players Association (RPA), urging them to consider participating in the study.

England centre Brad Barritt (right) is bloodied during the match with Australia on Saturday

The APOE4 gene has been identified for many years with an increased risk of Alzheimers disease and other dementias. Research carried out in the United States reported a link between APOE4 and the incidence and recovery rate from concussion in boxers and American footballers.

Approximately 20 per cent of the population carry the APOE4 gene.

It came following research carried out in the United States by world-leading head injury expert Barry Jordan which reported a link between the APOE4 gene and concussion in a sample of boxers and American footballers.

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England stars blocked RFU concussion gene-testing plan for all professional players due to 'Big Brother' privacy fears

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(MENAFN - The Peninsula) Weill Cornell Medical College in Qatar (WCMC-Q) has launched a new programme of interactive learning sessions to help practising healthcare professionals identify key challenges of meeting a variety of healthcare needs.

It also aims to discuss how this impacts their ability to manage patients, and to explore the benefits of a multidisciplinary approach to patient care.

The Grand Rounds, developed by WCMC-Q's Division of Continuing Professional Development, features presentations by expert speakers that aim to engage healthcare professionals in the community to enhance their knowledge of the latest developments in medical technology, research and best practice.

The latest Grand Round brought Dr Ronald G Crystal, one of the world's foremost researchers in genetic medicine, to Doha to discuss the cutting-edge research being carried out in his laboratory in New York.

Addressing an audience of approximately 100 medical professionals, students and faculty members convened at WCMC-Q, Dr Crystal, Professor and Chairman of the Department of Genetic Medicine at Weill Cornell Medical College in New York, explained how researchers have been able to use viruses as vehicles to insert new genetic material into living cells. It is hoped that the technology, which is still in the early stages of development, could eventually be used to treat hereditary disorders such as haemophilia and cystic fibrosis, and acquired disorders like Alzheimer's, Parkinson's disease and cardiac failure, among others.

Dr Thurayya Arayssi, WCMC-Q's Associate Professor of Medicine and Associate Dean for Continuing Professional Development, said, "The Grand Rounds series offers professionals across the healthcare spectrum opportunities to hear from some of the most talented physicians and researchers working in the field of medicine. This helps to spread knowledge, skills and news of the latest developments in medicine throughout the healthcare community in Qatar and the wider region, which carries great potential for improving patient care in our part of the world."

The target audience of the Grand Rounds series brings together physicians, pharmacists, nurses, medical educators, students and other healthcare providers.

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Qatar- WCMC-Q introduces interactive learning

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