Category Archives: Gene Medicine

THE Newcastle Hospitals Northern Genetics Service has been confirmed as one of eleven national specialist centres to lead the way in conquering rare diseases.

The three-year 100,000 Genome Project, launched by the Prime Minister earlier this year, will transform diagnosis and treatment for patients with cancer and rare diseases.

The North-East and North Cumbria NHS Genome Medicine Centre (GMC) will be led by the Northern Genetic Service, based at the Institute of Genetic Medicine at the International Centre for Life in Newcastle.

The initiative involves collecting and decoding100,000 human genomes from NHS patients across England.

Being able to understand the complete set of a persons genes will enable doctors and scientists to understand more about specific conditions, particularly rare diseases and cancer.

Dr Paul Brennan, clinical director for the Northern Genetics Service said: This is an extremely exciting time for health care. When I became a consultant 12 years ago I wouldnt have even dreamed that routine whole genome sequencing would be possible within my career.

The most high profile recent example has been the BRCA1 and BRCA2 genes; women with particular changes in these genes have a higher chance of developing breast or ovarian cancer and can benefit from more intensive screening strategies or risk-reducing surgery.

In addition, women with a mutation in one of these genes who have cancer may now be eligible to receive new targeted medical treatments, developed in Newcastle.

We have also recently launched a region-wide service for families affected by Familial Hypercholesterolaemia (FH) a relatively common and treatable condition which causes high levels of cholesterol in the blood, increasing the risk of heart disease in those who do not receive treatment."

Recruitment to the project will begin in February 2015 and continue until the end of 2017.

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Gene team will lead the fight against rare diseases

Sacramento, Calif. (PRWEB) December 22, 2014

Using modified human stem cells, a team of UC Davis scientists has developed an improved gene therapy strategy that in animal models shows promise as a functional cure for the human immunodeficiency virus (HIV) that causes AIDS. The achievement, which involves an improved technique to purify populations of HIV-resistant stem cells, opens the door for human clinical trials that were recently approved by the U.S. Food and Drug Administration.

We have devised a gene therapy strategy to generate an HIV-resistant immune system in patients, said Joseph Anderson, principal investigator of the study and assistant professor of internal medicine. We are now poised to evaluate the effectiveness of this therapy in human clinical trials.

Anderson and his colleagues modified human stem cells with genes that resist HIV infection and then transplanted a near-purified population of these cells into immunodeficient mice. The mice subsequently resisted HIV infection, maintaining signs of a healthy immune system.

The findings are now online in a paper titled Safety and efficacy of a tCD25 pre-selective combination anti-HIV lentiviral vector in human hematopoietic stem and progenitor cells, and will be published in the journal Stem Cells.

Using a viral vector, the researchers inserted three different genes that confer HIV resistance into the genome of human hematopoietic stem cells cells destined to develop into immune cells in the body. The vector also contains a gene which tags the surface of the HIV-resistant stem cells. This allows the gene-modified stem cells to be purified so that only the ones resistant to HIV infection are transplanted. The stem cells were then delivered into the animal models, with the genetically engineered human stem cells generating an HIV-resistant immune system in the mice.

The three HIV-resistant genes act on different aspects of HIV infection one prevents HIV from exposing its genetic material when inside a human cell; another prevents HIV from attaching to target cells; and the third eliminates the function of a viral protein critical for HIV gene expression. In combination, the genes protect against different HIV strains and provide defense against HIV as it mutates.

After exposure to HIV infection, the mice given the bioengineered cells avoided two important hallmarks of HIV infection: a drop in human CD4+ cell levels and a rise in HIV virus in the blood. CD4+ is a glycoprotein found on the surface of white blood cells, which are an important part of the normal immune system. CD4+ cells in patients with HIV infection are carefully monitored by physicians so that therapies can be adjusted to keep them at normal level: If levels are too low, patients become susceptible to opportunistic infections characteristic of AIDS. In the experiments, mice that received the genetically engineered stem cells and infected with two different strains of HIV were still able to maintain normal CD4+ levels. The mice also showed no evidence of HIV virus in their blood.

Although other HIV investigators had previously bioengineered stem cells to be resistant to HIV and conducted clinical trials in human patients, efforts were stymied by technical problems in developing a pure population of the modified cells to be transplanted into patients. During the process of genetic engineering, a significant percentage of stem cells remain unmodified, leading to poor resistance when the entire population of modified cells is transplanted into humans or animal models. In the current investigation, the UC Davis team introduced a handle onto the surface of the bioengineered cells so that the cells could be recognized and selected. This development achieved a population of HIV-resistant stem cells that was greater than 94 percent pure.

Developing a technique to purify the population of HIV-resistant stem cells is the most important breakthrough of this research, said Anderson, whose laboratory is based at the UC Davis Institute for Regenerative Cures. We now have a strategy that shows great promise for offering a functional cure for the disease.

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New Technique for Bioengineering Stem Cells Shows Promise in HIV Resistance

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Newswise December 19, 2014(BRONX, NY)Sharmila Makhija, M.D., M.B.A., has been named professor and chair of the Department of Obstetrics & Gynecology and Womens Health at Albert Einstein College of Medicine and Montefiore Health System. An internationally-recognized expert in cancer prevention, she assumes her new position on April 1, 2015. Dr. Makhija joins Einstein and Montefiore from the University of Louisville School Of Medicine, where she serves as chair and professor of obstetrics and gynecology.

We are delighted to welcome Dr. Makhija, a nationally recognized leader in gynecologic oncology, to Montefiore, said Steven M. Safyer, M.D., president and chief executive officer of Montefiore Health System. Dr. Makhija is an outstanding clinician and researcher who brings great passion, exacting standards and a spirit of innovation to Montefiore and is uniquely qualified to take the Department of Obstetrics & Gynecology and Womens Health to new heights. In addition to her exceptional foundation in science and teaching, she has deep values and a commitment to excellence in clinical care.

Dr. Makhijas clinical and research focus is on gynecologic cancers, particularly ovarian and uterine cancers. She has participated in numerous clinical trials and translational research projects centered on developing targeted therapeutics and gene therapies and improving cancer guidelines and management. She has also championed the extension of cervical cancer clinical trials to underserved women, particularly in India, as well as participated in the HIV Prevention Trials Network.

Dr. Makhija brings a unique and powerful mix to our joint venture, said Allen M. Spiegel, M.D., the Marilyn and Stanley M. Katz Dean at Einstein. There is a growing need to quickly and efficiently bridge the gap between laboratory science and clinical application. Her notable abilities in this area will help Einstein and Montefiore build upon our existing foundation to extend the scope of our research and directly improve patient care.

Dr. Makhija received her Bachelor of Science from Cornell University and her Doctorate in Medicine at the University of Alabama at Birmingham. She completed her residency in obstetrics and gynecology at the University of Louisville Hospital and a fellowship in gynecologic oncology at Memorial Sloan-Kettering Cancer Center. She received her executive M.B.A. from Emory Universitys Goizueta Business School.

Dr. Makhija has held faculty positions at the University of Pittsburgh School of Medicine/Magee-Womens Hospital, the University of Alabama at Birmingham School of Medicine, Emory University School of Medicine and most recently, the University of Louisville School of Medicine. She is a fellow of the American College of Obstetrics and Gynecology and a member of the American Medical Association, American Association of Cancer Research, American Society of Gynecologic Cancer and many more. Dr. Makhija is on the editorial board of the Journal of Oncology Practice and has served on the editorial boards of Womens Oncology Review Journal and the International Journal of Gynecological Cancer. She is an alumna of the Executive Leadership in Academic Medicine (ELAM) Program for Women and has been included in U.S. News and World Reports Top Doctors List since 2008.

About Albert Einstein College of Medicine Albert Einstein College of Medicine of Yeshiva University is one of the nations premier centers for research, medical education and clinical investigation. During the 2014-2015 academic year, Einstein is home to 742 M.D. students, 212 Ph.D. students, 102 students in the combined M.D./Ph.D. program, and 292 postdoctoral research fellows. The College of Medicine has more than 2,000 full-time faculty members located on the main campus and at its clinical affiliates. In 2014, Einstein received $158 million in awards from the National Institutes of Health (NIH). This includes the funding of major research centers at Einstein in aging, intellectual development disorders, diabetes, cancer, clinical and translational research, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Its partnership with Montefiore Medical Center, the University Hospital and academic medical center for Einstein, advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. Through its extensive affiliation network involving Montefiore, Jacobi Medical CenterEinsteins founding hospital, and three other hospital systems in the Bronx, Brooklyn and on Long Island, Einstein runs one of the largest residency and fellowship training programs in the medical and dental professions in the United States. For more information, please visit http://www.einstein.yu.edu, read our blog, follow us on Twitter, like us on Facebook, and view us on YouTube.

About Montefiore Health System Montefiore Health System is a premier academic health system and the University Hospital for Albert Einstein College of Medicine. Combining nationally-recognized clinical excellence with a population health perspective that focuses on the comprehensive needs of the communities it serves, Montefiore delivers coordinated, compassionate, science-driven care where, when and how patients need it most. Montefiore consists of seven hospitals and an extended care facility with a total of 2,455 beds, a School of Nursing, and state-of-the-art primary and specialty care provided through a network of more than 150 locations across the region, including the largest school health program in the nation and a home health program. The Children's Hospital at Montefiore is consistently named in U.S. News' "America's Best Children's Hospitals." Montefiore's partnership with Einstein advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. The health system derives its inspiration for excellence from its patients and community, and continues to be on the frontlines of developing innovative approaches to care. For more information please visit http://www.montefiorehealthsystem.org. Follow us on Twitter; like us on Facebook; view us on YouTube.

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Albert Einstein College of Medicine and Montefiore Health System Name New Chair of Obstetrics & Gynecology and Women's ...

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18-Dec-2014

Contact: Vithya Selvam vithya_selvam@a-star.edu.sg 656-826-6291 Biomedical Sciences Institutes (BMSI) @astarhq

Scientists at A*STAR's Institute of Medical Biology (IMB) and Institute of Molecular and Cellular Biology (IMCB) have identified a genetic pathway that accounts for the extraordinary size of the human brain. The team led by Dr Bruno Reversade from A*STAR in Singapore, together with collaborators from Harvard Medical School, have identified a gene, KATNB1, as an essential component in a genetic pathway responsible for central nervous system development in humans and other animals.

By sequencing the genome of individuals of normal height but with a very small head size, the international team revealed that these individuals had mutations in the KATNB1 gene, indicating that this gene is important for proper human brain development. Microcephaly (literally meaning "small head" in Latin) is a condition often associated with neurodevelopmental disorders. Measured at birth by calculating the baby's head circumference, a diagnosis of microcephaly is given if it is smaller than average.

Microcephaly may stem from a variety of conditions that cause abnormal growth of the brain during gestation or degenerative processes after birth, all resulting in a small head circumference. In general, individuals with microcephaly have a reduced life expectancy due to reduced brain function which is often associated with mental retardation.

The team also carried out further experiments to determine the function of KATNB1, whose exact mode of action was previously unknown in humans. Using organisms specifically designed to lack this gene, they realised that KATNB1 is crucial for the brain to reach its correct size. Zebrafish and mice embryos without this gene could not live past a certain stage and showed dramatic reduction in brain and head size, similar to the human patients. Their results were published in the 17 December 2014 online issue of Neuron, the most influential journal in the field of Neuroscience.

Sequencing and screening for this particular gene before birth or at birth might also help to detect future neurocognitive problems in the general population. Dr Reversade said, "We will continue to search for other genes important for brain development as they may unlock some of the secrets explaining how we, humans, have evolved such cognitive abilities."

Prof Birgit Lane, Executive Director of IMB, said, "This is one of a small number of genes that scientists have found to be vital for brain development. The work is therefore an important advance in understanding the human brain. The team's findings provide a new platform from which to look further into whether - and how - this gene can be used for targeted therapeutic applications."

Prof Hong Wanjin, Executive Director of IMCB, said, "This coordinated effort shows the increasingly collaborative nature of science. As the complexity and interdisciplinary nature of research evolves, so do the networks of collaborations between research institutes at A*STAR and across continents."

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A*STAR scientists discover gene critical for proper brain development

Provided by Stuart Wolpert, UCLA

A new research institute at UCLA may eventually provide doctors with tools to more accurately tailor medicines for individual patients, which could both improve quality of care and minimize the side effects associated with todays medicine.

TheInstitute for Quantitative and Computational Biosciences (QCB) will employ multidisciplinary researchto study how molecules and genes interact. Its goal: unlocking the biological basis of health and disease by tapping the power of big data and computational modeling.

UCLAs Institute for Quantitative and Computational Biosciences will have a major, positive impact on human health, said UCLA Chancellor Gene Block. It will engage exceptional faculty from the life sciences and physical sciences, and our David Geffen School of Medicine and Henry Samueli School of Engineering and Applied Science to ensure that UCLA is at the forefront of research that will help usher in a new era of personalized health care, and to transform research and education in the biosciences.

The institute is led by Alexander Hoffmann, professor of microbiology, immunology and molecular genetics in the UCLA College, whose research aims to understand how our genes interact to ensure health or produce disease and the roles played by such factors as food, environmental stresses, infectious agents and pharmaceuticals. Among the diseases for which Hoffmanns research may lead to significant progress are cancer and immune disorders, because they are caused by errors in cellular decision-making.

Hoffmann says that biologys million-dollar question is how genes and environment interact to ensure health or cause disease, he said. As UCLA researchers work to answer that question, they will collaborate with UCLA mathematicians who will create mathematical models that help them make sense of a tsunami of biological data.

Biology is entering a new phase, Hoffmann said. So far, biology has been much less math-based than the other sciences. Since the sequencing of the human genome in the early 2000s, there has been an irreversible change in the way biology and biomedical research are being done. At UCLA, we will lead research in that direction and connect basic and applied sciences in an unprecedentedly productive collaboration.

Victoria Sork, dean of the UCLA Division of Life Sciences, said the institutes approach represents the new life sciences and predicts that the new center will accelerate discovery and translational application in many areas, including medicine, the environment, energy, and food production and food safety.

Technological breakthroughs are enabling scientists to analyze not only one gene at a time, but how hundreds or thousands of genes work together, Sork said. Combined with big data, new knowledge of critical gene networks will lead us to a better understanding of what makes humans healthy.

The road to precision medicine

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UCLA launches revolutionary "big-data" research institute

TORONTO, ON Consider the relationship between an air traffic controller and a pilot. The pilot gets the passengers to their destination, but the air traffic controller decides when the plane can take off and when it must wait. The same relationship plays out at the cellular level in animals, including humans. A region of an animals genome the controller directs when a particular gene the pilot can perform its prescribed function.

A new study by cell and systems biologists at the University of Toronto (U of T) investigating stem cells in mice shows, for the first time, an instance of such a relationship between the Sox2 gene which is critical for early development, and a region elsewhere on the genome that effectively regulates its activity. The discovery could mean a significant advance in the emerging field of human regenerative medicine, as the Sox2 gene is essential for maintaining embryonic stem cells that can develop into any cell type of a mature animal.

We studied how the Sox2 gene is turned on in mice, and found the region of the genome that is needed to turn the gene on in embryonic stem cells, said Professor Jennifer Mitchell of U of Ts Department of Cell and Systems Biology, lead investigator of a study published in the December 15 issue of Genes & Development.

Like the gene itself, this region of the genome enables these stem cells to maintain their ability to become any type of cell, a property known as pluripotency. We named the region of the genome that we discovered the Sox2 control region, or SCR, said Mitchell.

Since the sequencing of the human genome was completed in 2003, researchers have been trying to figure out which parts of the genome made some people more likely to develop certain diseases. They have found that the answers are more often in the regions of the human genome that turn genes on and off.

If we want to understand how genes are turned on and off, we need to know where the sequences that perform this function are located in the genome, said Mitchell. The parts of the human genome linked to complex diseases such as heart disease, cancer and neurological disorders can often be far away from the genes they regulate, so it can be difficult to figure out which gene is being affected and ultimately causing the disease.

It was previously thought that regions much closer to the Sox2 gene were the ones that turned it on in embryonic stem cells. Mitchell and her colleagues eliminated this possibility when they deleted these nearby regions in the genome of mice and found there was no impact on the genes ability to be turned on in embryonic stem cells.

We then focused on the region weve since named the SCR as my work had shown that it can contact the Sox2 gene from its location 100,000 base pairs away, said study lead author Harry Zhou, a former graduate student in Mitchells lab, now a student at U of Ts Faculty of Medicine. To contact the gene, the DNA makes a loop that brings the SCR close to the gene itself only in embryonic stem cells. Once we had a good idea that this region could be acting on the Sox2 gene, we removed the region from the genome and monitored the effect on Sox2.

The researchers discovered that this region is required to both turn Sox2 on, and for the embryonic stem cells to maintain their characteristic appearance and ability to differentiate into all the cell types of the adult organism.

Just as deletion of the Sox2 gene causes the very early embryo to die, it is likely that an abnormality in the regulatory region would also cause early embryonic death before any of the organs have even formed, said Mitchell. It is possible that the formation of the loop needed to make contact with the Sox2 gene is an important final step in the process by which researchers practicing regenerative medicine can generate pluripotent cells from adult cells.

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University of Toronto cell biologists discover on-off switch for key stem cell gene - Discovery may propel advances in ...

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Newswise Its the most basic of ways to find out what something does, whether its an unmarked circuit breaker or an unidentified gene flip its switch and see what happens. New remote-control technology may offer biologists a powerful way to do this with cells and genes. A team at Rockefeller University and Rensselaer Polytechnic Institute is developing a system that would make it possible to remotely control biological targets in living animals rapidly, without wires, implants or drugs.

Today (December 15) in the journal Nature Medicine, the team describes successfully using electromagnetic waves to turn on insulin production to lower blood sugar in diabetic mice. Their system couples a natural iron storage particle, ferritin, to activate an ion channel called TRPV1 such that when the metal particle is exposed to a radio wave or magnetic field it opens the channel, leading to the activation of an insulin producing gene. Together, the two proteins act as a nano-machine that can be used to trigger gene expression in cells.

The method allows one to wirelessly control the expression of genes in a living animal and could potentially be used for conditions like hemophilia to control the production of a missing protein. Two key attributes are that the system is genetically encoded and can activate cells remotely and quickly, says Jeffrey Friedman, Marilyn M. Simpson Professor head of the Laboratory of Molecular Genetics at Rockefeller. We are now exploring whether the method can also be used to control neural activity as a means for noninvasively modulating the activity of neural circuits. Friedman and his Rensselaer colleague Jonathan S. Dordick were co-senior researchers on the project.

Other techniques exist for remotely controlling the activity of cells or the expression of genes in living animals. But these have limitations. Systems that use light as an on/off signal require permanent implants or are only effective close to the skin, and those that rely on drugs can be slow to switch on and off.

The new system, dubbed radiogenetics, uses a signal, in this case low-frequency radio waves or a magnetic field, to heat or move ferritin particles. They, in turn, prompt the opening of TRPV1, which is situated in the membrane surrounding the cell. Calcium ions then travel through the channel, switching on a synthetic piece of DNA the scientists developed to turn on the production of a downstream gene, which in this study was the insulin gene.

In an earlier study, the researchers used only radio waves as the on signal, but in the current study, they also tested out a related signal a magnetic field to activate insulin production. They found it had a similar effect as the radio waves.

The use of a radiofrequency-driven magnetic field is a big advance in remote gene expression because it is non-invasive and easily adaptable, says Dordick, who is Howard P. Isermann Professor of Chemical and Biological Engineering and vice president of research at Rensselaer. You dont have to insert anything no wires, no light systems the genes are introduced through gene therapy. You could have a wearable device that provides a magnetic field to certain parts of the body and it might be used therapeutically for many diseases, including neurodegenerative diseases. Its limitless at this point.

The choice to look at insulin production was driven by the equipment they used to generate the radio waves and magnetic fields. Because the coil that generates these signals is currently small i.e; only three centimeters in diameter, it was necessary to anesthetize the mice to keep them still. Since anesthesia can repress the production of insulin, the hormone that reduces blood sugar, Stanley and her colleagues designed the genetically encoded system to replace the insulin that is normally reduced by anesthesia in mice.

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'Radiogenetics' Seeks to Remotely Control Cells and Genes

ANN ARBOR (PRWEB) December 15, 2014

Gene therapy pioneer and longtime Veterans Affairs researcher Dr. David Fink received the 2014 Paul B. Magnuson Award from VA in a ceremony at the VA Ann Arbor Healthcare System on Dec. 15, 2014.

Dr. Fink is a staff neurologist and an investigator with the Geriatric Research, Education and Clinical Center at the Ann Arbor VA. He is also the Robert Brear Professor and Chair of Neurology at the University of Michigan. He has been with VA since 1982.

A Harvard Medical School graduate, Fink has pioneered methods to introduce genes into the body to treat chronic pain and other nervous-system diseases. His team led the first human clinical trial of gene therapy for pain. The phase 1 trial, published in the Annals of Internal Medicine in 2011, involved 10 cancer patients with severe pain who had failed to respond even to high doses of morphine or other pain drugs. Finks group gave them skin injections of an inactive form of the herpes simplex virus as a means to deliver a gene known as PENK. The gene helps the body produce an opioid-like molecule called proenkephalin.

The gene treatment, based on years of research, is safe in humans and led to pain reduction. A larger phase 2 clinical trial of the approach is now being planned.

Besides cancer pain, Finks work focuses on Veterans and others with nerve-related conditions such as spinal cord injury and diabetic neuropathy. The team is developing non-replicating viral vectors, similar to the one used in the 2011 human trial, to ferry genes into the nervous system that code for the production of the bodys own pain relievers. A related approach, now being funded by VA, is to use the vectors to bring about the continuous release of proteins that protect nerve cells from dying. This could help prevent neuropathy and the sharp chronic pain it entails.

Dr. Finks work holds tremendous potential for treating Veterans with chronic neurological disease, said Robert McDivitt, an Army Veteran and director of the VA Ann Arbor Healthcare System.

Fink was presented the award by Dr. Carolyn Clancy, VAs Interim Undersecretary for Health. Also attending the ceremony was Dr. Patricia Dorn, director of VA Rehabilitation Research and Development, which each year presents the Magnuson Award as the highest honor for VA rehabilitation investigators.

The award is named for Paul B. Magnuson, a bone and joint surgeon who was a key figure in the expansion of the VA research program after World War II. He was known for his dedication to finding new treatments and devices to help Veterans cope with their disabilities, and, as he put it, to restoring each patient to his family, his job, and his life. Established in 1998, the Magnuson Award consists of a plaque, a one-time award of $5,000, and $50,000 per year for up to three years to supplement ongoing peer-reviewed research.

About the VA Ann Arbor Healthcare System Since 1953, VA Ann Arbor Healthcare System which includes the VA Ann Arbor Medical Center, the VA Toledo Community Based Outpatient Clinic [CBOC], the VA Flint CBOC, and the VA Jackson CBOC, as well as the VA Center for Clinical Management Research, an HSR&D Center of Innovation, has provided state-of-the-art healthcare services to the men and women who have proudly served our nation. More than 65,000 Veterans living in a 15-county area of Michigan and Northwest Ohio utilized VAAAHS in fiscal year 2014. The Ann Arbor Medical Center also serves as a referral center for specialty care.

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VAs Magnuson Award to Gene Therapy Pioneer in Ann Arbor

Consider the relationship between an air traffic controller and a pilot. The pilot gets the passengers to their destination, but the air traffic controller decides when the plane can take off and when it must wait. The same relationship plays out at the cellular level in animals, including humans. A region of an animal's genome -- the controller -- directs when a particular gene -- the pilot -- can perform its prescribed function.

A new study by cell and systems biologists at the University of Toronto (U of T) investigating stem cells in mice shows, for the first time, an instance of such a relationship between the Sox2 gene which is critical for early development, and a region elsewhere on the genome that effectively regulates its activity. The discovery could mean a significant advance in the emerging field of human regenerative medicine, as the Sox2 gene is essential for maintaining embryonic stem cells that can develop into any cell type of a mature animal.

"We studied how the Sox2 gene is turned on in mice, and found the region of the genome that is needed to turn the gene on in embryonic stem cells," said Professor Jennifer Mitchell of U of T's Department of Cell and Systems Biology, lead invesigator of a study published in the December 15 issue of Genes & Development.

"Like the gene itself, this region of the genome enables these stem cells to maintain their ability to become any type of cell, a property known as pluripotency. We named the region of the genome that we discovered the Sox2 control region, or SCR," said Mitchell.

Since the sequencing of the human genome was completed in 2003, researchers have been trying to figure out which parts of the genome made some people more likely to develop certain diseases. They have found that the answers are more often in the regions of the human genome that turn genes on and off.

"If we want to understand how genes are turned on and off, we need to know where the sequences that perform this function are located in the genome," said Mitchell. "The parts of the human genome linked to complex diseases such as heart disease, cancer and neurological disorders can often be far away from the genes they regulate, so it can be dificult to figure out which gene is being affected and ultimately causing the disease."

It was previously thought that regions much closer to the Sox2 gene were the ones that turned it on in embryonic stem cells. Mitchell and her colleagues eliminated this possibility when they deleted these nearby regions in the genome of mice and found there was no impact on the gene's ability to be turned on in embryonic stem cells.

"We then focused on the region we've since named the SCR as my work had shown that it can contact the Sox2 gene from its location 100,000 base pairs away," said study lead author Harry Zhou, a former graduate student in Mitchell's lab, now a student at U of T's Faculty of Medicine. "To contact the gene, the DNA makes a loop that brings the SCR close to the gene itself only in embryonic stem cells. Once we had a good idea that this region could be acting on the Sox2 gene, we removed the region from the genome and monitored the effect on Sox2."

The researchers discovered that this region is required to both turn Sox2 on, and for the embryonic stem cells to maintain their characteristic appearance and ability to differentiate into all the cell types of the adult organism.

"Just as deletion of the Sox2 gene causes the very early embryo to die, it is likely that an abnormality in the regulatory region would also cause early embryonic death before any of the organs have even formed," said Mitchell. "It is possible that the formation of the loop needed to make contact with the Sox2 gene is an important final step in the process by which researchers practicing regenerative medicine can generate pluripotent cells from adult cells."

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Cell biologists discover on-off switch for key stem cell gene

Cancer Gene: Medicines Next Big Thing?
This year alone, 16000 children under the age of 19 will be diagnosed with cancer.

By: NewsChannel 5

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Cancer Gene: Medicines Next Big Thing? - Video