Genetics Part III
genetics Table of Contents: 00:00 - 04:22 - 04:22 - 04:23 - 04:26 - 04:27 - 04:30 - 04:31 - 04:32 - 04:36 - 04:37 - 04:37 - 05:02 - 05:06 -

By: Fleur Ferro

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Genetics Part III - Video

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Siobhan Sengupta, Preimplantation Genetics
Siobhan Sengupta, Preimplantation Genetics (Research Department of Reproductive Health, UCL EGA Institute for Women #39;s Health) talks about her research.

By: UCL EGA Institute for Women #39;s Health

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Siobhan Sengupta, Preimplantation Genetics - Video

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Celltex Therapeutics Corporation (Celltex) helped sponsor the Ninth Annual Joints in Action Golf Tournament, which invites golf enthusiasts to play a round for a good cause.

The Tournament, founded by Dr. Bill Bryan and co-chaired by James Dumler and Lee Hollmann, took place on Thursday, Aug. 28 at the Kingwood Country Club in Kingwood and honored Dr. Stanley Jones, chief medical officer at Celltex, as this years medical honoree.

The annual charity event, which raises more than $200,000 every year for the Arthritis Foundation, helps to bring awareness to arthritis, the leading cause of disability in the United States.

One out of every five adults is stricken with arthritis and in Houston this number is even higher, where nearly one in every four adults is impacted. Adults are not the only ones living with arthritis; more than 300,000 children in the United States are affected and over 6,500 of these children are living in the Houston area.

Celltex, formed in 2011 by David G. Eller and Dr. Stanley Jones to spearhead breakthroughs in regenerative medicine through the use of adult, autologous, adipose-derived, mesenchymal stem cells, was invited to be this years presenting sponsor of the Joints in Action Golf Tournament. The Arthritis Foundation has remained committed to funding research to find cures for this debilitating disease and for over 60 years has provided support to those living with arthritis.

Over 20 teams participated in the tournament, all of which were invited to attend a celebratory dinner at the Kingwood Country Club, where Dr. Jones thanked everyone for their participation and support.

I am humbled and honored to join the remarkable honorees of this years Joints in Action Golf Tournament, says Dr. Jones, medical honoree of this years tournament. As someone whose career was nearly ended after an onset of autoimmune psoriatic arthritis, I was fortunate enough to find relief after receiving my own adult stem cells. My personal experience with medical breakthroughs like stem cell therapy is why I will continue to support this focused organization and its mission to find a cure for arthritis in all of its forms.

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Celltex supports Arthritis Foundation in annual Joints in Action Golf Tournament

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Boston, Massachusetts (PRWEB) September 25, 2014

The ASCTCs (website) Director James L. Sherleys first BioPharm America (conference website) experience got off to a remarkable beginning on Day 1 of the conference. After an impromptu decision to participate in the events Perfect Pitch competition, which involved about 40 company contestants, ASCTC tied for second place. As one of a few companies in the stem cell and regenerative medicine space at the conference, this success led to some attendees referring to Sherley as that stem cell guy. Sherley smiled, I take it as a fun compliment. I do think it was the unique presence of ASCTC as one of a few stem cell companies present in a sea of drug development companies that contributed to our success.

However, the ASCTCs pitch to a panel of Pharma investors was in fact more about drugs than stem cells. Sherley pitched the companys partnership venture with AlphaSTAR Corporation (ASC; website) located in Long Beach, California. ASC develops computer simulation analyses to predict the integrity failure of complex composite materials used to build aircraft, racing cars, and other high stress vehicles like the space shuttle. The two companies have integrated their respective expertise to produce a first-of-its-kind computer simulation-based technology for identifying, at the beginning of the drug development pipeline, drug candidates that are toxic to tissue stem cells. Such toxicity causes drugs to fail in expensive preclinical studies and clinical trials, and even after marketing.

At the conference, Sherley commented, I think we are starting to get their [drug companies] attention now. In his pitch of the new AlphaStem tissue stem cell toxicity technology, he emphasized that the ASCTC projects that this technology could save the U.S. Pharma industry about $4 billion of the estimated $40 billion that it spends on failed drug candidates each year. Besides reducing cost and accelerating the development of needed new drugs, the AlphaStem technology would reduce that exposure of patients to particularly harmful drug candidates.

The ASCTC was not the only company at the conference active within the regenerative medicine space. On the first evening of the conference, ASCTC was one of several guest companies and academic institutions in the regenerative medicine space that were invited to a VIP dinner co-hosted by BioPharm Americas producer, EBD Group, and the Alliance for Regenerative Medicine. The guest party dined at the Top of the Hub Restaurant on the top floor of Bostons Prudential Tower.

BioPharm America conferences are designed to arrange many one-to-one meetings among participants of diverse expertise in the international pharmaceutical industry. Over the three-day conference, ASCTC Director Sherley met with Pharma executives, contract research organization directors, Pharma business development consultants, and Pharma investment group partners towards establishing new strategic relationships for the company.

On the final morning of the conference, the ASCTC was one of eleven companies selected to present in the Next Generation Company session. Director Sherley focused his presentation on how the ASCTCs unique expertise in tissue stem cell asymmetric self-renewal gives the company its exclusive position in commercialization of technologies for counting, manufacturing, and monitoring human tissue stem cells. Asymmetric self-renewal is the defining property of tissue stem cells that allows them to maintain the genomic blueprint of human tissues while continuously producing the building block cells of body tissues at the same time. Sherley expressed that asymmetrically self-renewing stem cells in organs and tissues of children and adults will eventually be understood as the fulcrum at the center, between the mature industry of pharmaceutical therapeutics and the emerging industry of cell-based therapeutics. Thats the ASCTC vision.

************************************************************************************************************* The Adult Stem Cell Technology Center, LLC is a Massachusetts life sciences company established in September 2013 (ASCTC; join mailing list). ASCTC Director and founder, James L. Sherley, M.D., Ph.D. is the foremost authority on the unique properties of adult tissue stem cells. The companys patent portfolio contains biotechnologies that solve the three main technical problems production, quantification, and monitoring that have stood in the way of successful commercialization of human adult tissue stem cells for regenerative medicine and drug development. In addition, the portfolio includes novel technologies for isolating cancer stem cells and producing induced pluripotent stem cells. Currently, ASCTC is employing its technological advantages to pursue commercialization of mass-produced therapeutic human liver cells and facile assays that are early warning systems for drug candidates with catastrophic toxicity due to adverse effects against adult tissue stem cells.

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The Adult Stem Cell Technology Center, LLC Presents Its New Company Initiatives At The 2014 BioPharm America ...

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Basic Evaluation Before PRP and Stem Cell Therapy in Osteoarthritis Knee
stem cell india, stem cell therapy india, stem cell in india, stem cell therapy in india, india stem cell, india stem cell therapy.

By: Stem Cell India

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Nishan - Stem Cell Therapy in Duchenne Muscular Dystrophy (DMD) - 23-04-2014
stem cell india, stem cell therapy india, stem cell in india, stem cell therapy in india, india stem cell, india stem cell therapy.

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Nishan - Stem Cell Therapy in Duchenne Muscular Dystrophy (DMD) - 23-04-2014 - Video

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Vivek - Stem Cell Therapy in Duchenne Muscular Dystrophy (DMD)
stem cell india, stem cell therapy india, stem cell in india, stem cell therapy in india, india stem cell, india stem cell therapy.

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Knee Stem Cell Injections
Knee Stem Cell Injections can be a treatment for chronic pain such as Avascular Necrosis as a means of non-surgical treatment as opposed to surgery. Stem Cell Injections for Knee Osteoarthritis...

By: Dr. Lox

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Knee Stem Cell Injections - Video

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A vaccination against multiple sclerosis is in progress in the laboratory of SangKon Oh, PhD, at the Baylor Institute for Immunology Research. Along with Gerard Zurawski, PhD, and Ted Phillips, MD, Dr. Oh is applying new insights from research in dendritic cell vaccines to a multiple sclerosis vaccine.

Dr. Ohs approach is a very unique effort that would harness ones own immune system to suppress multiple sclerosis in an auto antigen-specific manner without disrupting other aspects of normal immunity, stated Dr. Phillips in a news release provided by Baylor Scott & White Health. The teams studies are unique in that they do not adversely affect the immune system like traditional multiple sclerosis treatment does. Instead, the immune system is preserved.

According to a video from Baylor Health Care System, dendritic cell vaccines are engineered by growing a patients blood-derived stem cells in vitro to become dendritic cells. These differentiated dendritic cells are then sensitized with immunogenic proteins. After, the dendritic cells are injected into the patient and, similar to a vaccine, prime lymphocytes to attack the immunogenic proteins within the body.

Current work was motivated by the application of dendritic cells to fighting cancer, but a unique property of the cells was discovered that allows their influence on immune function. We discovered that DC-ASGPR, one of the receptors expressed on human dendritic cells, has novel functions to promote antigen-specific regulatory T-cells that can efficiently suppress inflammatory responses, said Dr. Oh. This prompted us to test our discovery in autoimmune diseases where antigens are known.

From that time, the application of dendritic cell vaccines has grown extraordinarily. A phase 1 clinical trial may be in the works as soon as the year 2017. We need new treatments that, while highly efficacious, also minimally adversely impact the individuals immune system, said Dr. Phillips.

The findings from this research can be further applied to other diseases such as type 1 diabetes. For now, Dr. Oh is focused on their radical new approach to attack multiple sclerosis in its early stages before the immune system suffers damage.

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Vaccine Against MS Being Developed at Baylor Institute for ...

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: Guido Silvestri gsilves@emory.edu 404-727-9139 PLOS

A study published on September 25th in PLOS Pathogens reports a new primate model to test treatments that might cure HIV/AIDS and suggests answers to questions raised by the "Berlin patient", the only human thought to have been cured so far.

Being HIV-positive and having developed leukemia, the Berlin patient underwent irradiation followed by a bone-marrow transplant from a donor with a mutation that abolishes the function of the CCR5 gene. The gene codes for a protein that facilitates HIV entry into human cells, and the mutationin homozygous carriers who, like the donor, have two defective copiesprotects against HIV infection.

Several factors could have contributed to the cure of HIV/AIDS in the patient: (1) the ablation of blood and immune cells following irradiation killed all or many of the viral reservoir cells that are not eliminated by antiretroviral treatment (ART); (2) the CCR5 deletion mutation in the donor cells protected them and their progeny from HIV infection; (3) a "graft versus host" reaction occurred, where the transplanted cells and their progeny recognize the host cells as foreign and attacked and eliminated HIV-positive reservoir cells that survived the irradiation.

Guido Silvestri, from Emory University in Atlanta, USA, and colleagues investigated the relative contribution of the irradiation to eliminate the reservoir of HIV-infected cells. The scientists worked with the animal model of Simian Immunodeficiency Virus (SIV, a close relative of HIV that infects primates and causes a disease similar to AIDS) infection in rhesus macaques. Using a total of six monkeys (three of which served as controls and did not receive transplants) they performed, for the first time, hematopoietic stem cell transplantation in rhesus macaques infected with a chimeric simian/human immunodeficiency virus (SHIV) and treated with ART.

The researchers harvested hematopoetic stem cells from three macaques prior to infection (of all six animals) with SHIV. They also treated the macaques with ART to reduce viral load and mimic the situation in human HIV-infected patients on ART. They then exposed the three monkeys from which they had collected hematopietic stem cells to a high dose of radiation. This killed most of their existing blood and immune cells, including between 94 and 99% of their CD4-T cellsthe main target of HIV infectionin the blood. The irradiation was followed by transplantation of each monkey's own virus-free hematopoietic stem cells. The latter can regenerate the blood and immune cells, and did so in all three monkeys within 3 to 6 weeks. Because the transplanted cells are not from a different donor, no graft versus host disease would be expected, and none was observed.

After that time, the scientists stopped ART in all six monkeys. As expected, the virus rebounded rapidly in the control animals. Of the three transplanted animals, two also showed a rapid rebound. The third monkey developed kidney failure two weeks after ART was stopped and was euthanized. It still had undetectable levels of virus in the blood at that time, but post-mortem analysis showed low levels of viral DNA in a number of tissues, arguing that none of the three transplanted monkeys was cured.

The researchers acknowledge a number of limitations of the study, including the small number of monkeys, and the relatively short period of ART prior to irradiation and transplantation. Nonetheless, they say their study "supports the hypothesis that myeloablative total body irradiation can cause a significant decrease in the viral reservoir in blood cells, even though it was not sufficient to eliminate all reservoirs". Their results, they say, suggest that in the cure of the Berlin patient, "the use of the CCR5 mutant donor and/or the presence of graft versus host disease played a significant role".

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Stem cell transplant does not cure SHIV/AIDS after irradiation of infected rhesus macaques

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Scientists at a Birmingham university have carried out research which could help find a cure for leukaemia.

The study by researchers at the University of Birmingham has been described as a key step in the process to understanding how the disease develops.

The research specifically investigated acute myeloid leukaemia and looked at the way blood cells behave in patients suffering from the illness.

University Professor Constanze Bonifer explained: Stem cells in the bone marrow generate billions of different blood cells each day. The process resembles a production line with genes acting as regulators to control each step of the blood formation.

Leukaemia arises when the DNA encoding regulators in the stem cells is changed by a mutation.

When a mutation occurs in the relevant regulator genes, the finely balanced order of the production line is disrupted with drastic consequences.

A chain reaction occurs, with the function of other regulators in the process being altered. The new cells no longer develop into normal blood cells, but leukemic cells that multiply and begin to take over the body.

The team, which carried out the research alongside experts from Newcastle University, used state-of-the-art technology to see how the cells could be manipulated to stop them from causing the disease.

Professor Olaf Heidenreich, of Newcastle University, said: One aberrant regulator reprograms thousands of genes. If targeting it can reverse the changes it is making to the cellular production line then it would ultimately point towards new avenues for a more precise treatment of leukaemia.

Knowing that the production line can be restored to normal function gives us real hope. Of course, that is much easier to do in the lab that it is in the human body.

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Leukaemia: Birmingham scientists hope research could pave way for cure

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Over 500 million people worldwide carry a genetic mutation that disables a common metabolic protein called ALDH2. The mutation, which predominantly occurs in people of East Asian descent, leads to an increased risk of heart disease and poorer outcomes after a heart attack. It also causes facial flushing when carriers drink alcohol.

Now researchers at the Stanford University School of Medicine have learned for the first time specifically how the mutation affects heart health. They did so by comparing heart muscle cells made from induced pluripotent stem cells, or iPS cells, from people with the mutation versus those without the mutation. IPS cells are created in the laboratory from specialized adult cells like skin. They are "pluripotent," meaning they can be coaxed to become any cell in the body.

"This study is one of the first to show that we can use iPS cells to study ethnic-specific differences among populations," said Joseph Wu, MD, PhD, director of the Stanford Cardiovascular Institute and professor of cardiovascular medicine and of radiology.

"These findings may help us discover new therapeutic paths for heart disease for carriers of this mutation," said Wu. "In the future, I believe we will have banks of iPS cells generated from many different ethnic groups. Drug companies or clinicians can then compare how members of different ethnic groups respond to drugs or diseases, or study how one group might differ from another, or tailor specific drugs to fit particular groups."

The findings are described in a paper that will be published Sept. 24 in Science Translational Medicine. Wu and Daria Mochly-Rosen, PhD, professor of chemical and systems biology, are co-senior authors of the paper, and postdoctoral scholar Antje Ebert, PhD, is the lead author.

ALDH2 and cell death

The study showed that the ALDH2 mutation affects heart health by controlling the survival decisions cells make during times of stress. It is the first time ALDH2, which is involved in many common metabolic processes in cells of all types, has been shown to play a role in cell survival. In particular, ALDH2 activity, or the lack of it, influences whether a cell enters a state of programmed cell death called apoptosis in response to stressful growing conditions.

The use of heart muscle cells derived from iPS cells has opened important doors for scientists because tissue samples can be easily obtained and maintained in the laboratory for study. Until recently, researchers had to confine their studies to genetically engineered mice or to human heart cells obtained through a heart biopsy, an invasive procedure that yields cells which are difficult to keep alive long term in the laboratory.

"People have studied the enzyme ALDH2 for many years in animal models," said Ebert. "But there are many significant differences between mice and humans. Now we can study actual human heart muscle cells, conveniently grown in the lab."

The iPS cells in this study were created from skin samples donated by 10 men, ages 21-22, of East Asian descent.

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Stem cells used to learn how common mutation in Asians affects heart health

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PUBLIC RELEASE DATE:

23-Sep-2014

Contact: Geoff Spencer spencerg@mail.nih.gov 301-435-0888 NIH/National Center for Advancing Translational Sciences (NCATS)

The National Institutes of Health will award funds to support the next phase of its Tissue Chip for Drug Screening program to improve ways of predicting drug safety and effectiveness. Researchers will collaborate over three years to refine existing 3-D human tissue chips and combine them into an integrated system that can mimic the complex functions of the human body. Led by the National Center for Advancing Translational Sciences (NCATS), the program will support 11 institutions at $17 million in 2014 with additional support over the remaining two years if funds are available.

Because these tissue chip systems will closely mimic human function, scientists can probe the tissue chips in ways that they aren't able to do in people, and the knowledge gained may provide critical clues to disease progression and insights into the development of potential therapeutics.

Fifteen NIH Institutes and Centers are involved in the coordination of this program. Current funding is being provided by NCATS, the National Institute for Biomedical Imaging and Bioengineering, the National Cancer Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institute of Environmental Health Sciences, NIH Common Fund, and NIH Office of Research on Women's Health.

Researchers create human tissue chips using techniques that result in miniature models of living organ tissues on transparent microchips. Ranging in size from a quarter to a house key, the chips are lined with living cells and contain features designed to replicate the complex biological functions of specific organs.

"The development of tissue chips is a remarkable marriage of biology and engineering, and has the potential to transform preclinical testing of candidate treatments, providing valuable tools for biomedical research," said NIH Director Francis S. Collins, M.D., Ph.D.

Approximately 80 percent of candidate drugs fail in human clinical trials because they are found to be unsafe or ineffective. More than 30 percent of promising medications fail due to toxicity, despite promising preclinical studies in animal and cell models. These models can be costly and poor predictors of drug response in humans.

"NCATS aims to get more treatments to more patients more efficiently," said NCATS Director Christopher P. Austin, M.D. "That is exactly why we are supporting the development of human tissue chip technology, which could be revolutionary in providing a faster, more cost-effective way of predicting the failure or success of drugs prior to investing in human clinical trials."

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NIH funds next phase of Tissue Chip for Drug Screening program

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Dr. Anne F. Reilly Interview - T Cell Therapy
Recorded on 9/24/2014 - Captured Live on Ustream at http://www.ustream.tv/channel/american-radio.

By: WOCA The Source Radio

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Dr. Anne F. Reilly Interview - T Cell Therapy - Video

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: Leslie Ridgeway lridgewa@usc.edu 323-442-2823 University of Southern California - Health Sciences

LOS ANGELES Keck Medicine of USC scientists have discovered new clues about a drug instrumental in treating a certain blood cancer that may provide important targets for researchers searching for cures.

The team investigated whether demethylation of gene bodies induced by the drug 5-Aza-CdR (decitabine), which is used to treat pre-leukemia, could alter gene expression and possibly be a therapeutic target in cancer.

"When we put the drug in cancer cells, we found it not only reactivated some tumor suppressor genes, but it down-regulated the overexpressed oncogene (cancer gene)," said Gangning Liang, Ph.D., associate professor of research, Keck School of Medicine of USC Department of Urology, who is corresponding author on the research. "Overexpression is what turns cancer 'on.' The mechanism by which the drug accomplishes this dual action is by removing DNA methylation in the gene body, which we didn't expect."

DNA methylation is an epigenetic signaling tool used by cells use to turn genes off. DNA methylation is an important component in many cellular processes, including embryonic development. Mistakes in methylation are linked to several human diseases, including cancer.

The research builds upon past research by Peter Jones, Ph.D., D.Sc., former director of the USC Norris Comprehensive Cancer Center, Distinguished Professor of Urology and Biochemistry & Molecular Biology, and now director of research at the Van Andel Institute.

"The beginnings of epigenetic therapy, which is now the standard of care for myelodysplastic syndrome, can be traced back to the discovery of the DNA demethylating effects of 5-Azacytidine at Children's Hospital Los Angeles in 1980," Jones said. "Since that time we have always assumed that the drugs act by switching genes on, thus reapplying the 'brakes' to cancer cells. In this paper we show that they may also work by turning down the levels of genes, which have become overexpressed in cancer. In other words, they may also decrease the 'gasoline' and this two pronged mechanism, which was entirely unexpected, may help explain why patients respond to epigenetic therapy."

The research, "Gene body methylation can alter gene expression and is a therapeutic target in cancer," was published online Sept. 25, 2014 in Cancer Cell.

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USC researchers discover dual purpose of cancer drug in regulating expression of genes

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Cabbage Boy - Bean to this world
This is Cabbage Boy - Bean to this world, taken from the album Genetically Modified released in 1999 from Ntone (ntone35). Written, produced and genetically ...

By: averfon

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Cabbage Boy - Bean to this world - Video

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: John Ascenzi ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia @chop_research

An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.

"This research represents a paradigm shift in epilepsy research, giving us a new target on which to focus treatment strategies," said pediatric neurologist Dennis Dlugos, M.D., director of the Pediatric Regional Epilepsy Program at The Children's Hospital of Philadelphia, and a study co-author. "There is tremendous potential for new drug development and personalized treatment strategies, which is our task for the years to come."

Multiple researchers from the U.S. and Europe performed the research, the largest collaborative study to date focused on the genetic roots of severe epilepsies. The scientists reported their results online today in the American Journal of Human Genetics (epub ahead of print).

Two international research consortia collaborated on the studythe Epi4K/EPGP Consortium, funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the European EuroEPINOMICS consortium. The genetic analysis was performed at the NINDS-funded Epi4K Sequencing, Biostatistics, and Bioinformatics Core at Duke University, led by Drs. David Goldstein, Erin Heinzen and Andrew Allen.

The current study added to the list of gene mutations previously reported to be associated with these severe epilepsy syndromes, called epileptic encephalopathies. The researchers sequenced the exomes (those portions of DNA that code for proteins) of 356 patients with severe childhood epilepsies, as well as their parents. The scientists looked for "de novo" mutationsthose that arose in affected children, but not in their parents. In all, they identified 429 such de novo mutations.

In 12 percent of the children, these mutations were considered to unequivocally cause the child's epilepsy. In addition to several known genes for childhood epilepsies, the study team found strong evidence for additional novel genes, many of which are involved in the function of the synapse.

Epilepsies are amongst the most common disorders of the central nervous system, affecting up to 3 million patients in the U.S. Up to one third of all epilepsies are resistant to treatment with antiepileptic medication and may be associated with other disabilities such as intellectual impairment and autism. Severe epilepsies are particularly devastating in children. In many patients with severe epilepsies, no cause for the seizures can be identified, but there is increasing evidence that genetic factors may play a causal role.

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Large study pinpoints synapse genes with major roles in severe childhood epilepsies

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Newswise Philadelphia, Sept. 25, 2014 An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the highly dynamic junction at which nerve cells communicate with one another.

This research represents a paradigm shift in epilepsy research, giving us a new target on which to focus treatment strategies, said pediatric neurologist Dennis Dlugos, M.D., director of the Pediatric Regional Epilepsy Program at The Childrens Hospital of Philadelphia, and a study co-author. There is tremendous potential for new drug development and personalized treatment strategies, which is our task for the years to come.

Multiple researchers from the U.S. and Europe performed the research, the largest collaborative study to date focused on the genetic roots of severe epilepsies. The scientists reported their results online today in the American Journal of Human Genetics (epub ahead of print).

Two international research consortia collaborated on the studythe Epi4K/EPGP Consortium, funded by the National Institute of Neurological Disorders and Stroke (NINDS) and the European EuroEPINOMICS consortium. The genetic analysis was performed at the NINDS-funded Epi4K Sequencing, Biostatistics, and Bioinformatics Core at Duke University, led by Drs. David Goldstein, Erin Heinzen and Andrew Allen.

The current study added to the list of gene mutations previously reported to be associated with these severe epilepsy syndromes, called epileptic encephalopathies. The researchers sequenced the exomes (those portions of DNA that code for proteins) of 356 patients with severe childhood epilepsies, as well as their parents. The scientists looked for de novo mutationsthose that arose in affected children, but not in their parents. In all, they identified 429 such de novo mutations.

In 12 percent of the children, these mutations were considered to unequivocally cause the childs epilepsy. In addition to several known genes for childhood epilepsies, the study team found strong evidence for additional novel genes, many of which are involved in the function of the synapse.

Epilepsies are amongst the most common disorders of the central nervous system, affecting up to 3 million patients in the U.S. Up to one third of all epilepsies are resistant to treatment with antiepileptic medication and may be associated with other disabilities such as intellectual impairment and autism. Severe epilepsies are particularly devastating in children. In many patients with severe epilepsies, no cause for the seizures can be identified, but there is increasing evidence that genetic factors may play a causal role.

The research teams used a method called family-based exome sequencing, which looks at the part of the human genome that carries the blueprints for proteins. When comparing the sequence information in children with epilepsy with that of their parents, the researchers were able to identify the de novo changes that arose in the genomes of the affected children. While de novo changes are increasingly recognized as the genetic cause for severe seizure disorders, not all de novo changes are necessarily disease-causing.

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Large International Study Pinpoints Synapse Genes with Major Roles in Severe Childhood Epilepsies

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, NY, September 25, 2014The staggering growth rate of the global population demands innovative and sustainable solutions to increase food production by as much as 70-100% in the next few decades. In light of environmental changes, more drought-tolerant food crops are essential. The latest technological advances and future directions in regulating genes involved in stress tolerance in crops is presented in a Review article in OMICS: A Journal of Integrative Biology, the peer-reviewed interdisciplinary journal published by Mary Ann Liebert, Inc., publishers. The article is available free on the OMICS website.

Coauthors Roel Rabara and Paul Rushton, Texas A&M AgriLife Research and Extension Center, Dallas, TX, and Prateek Tripathi, University of Southern California, Los Angeles, focus on the role of transcription factors, described as "master regulators" because they are important components of many genetic regulatory pathways and may be able to control clusters of genes. Drought tolerance is a complex trait that is regulated by multiple genes.

In the article "The Potential of Transcription Factor-Based Genetic Engineering in Improving Crop Tolerance to Drought," the authors describe current strategies for using transcription factors to improve drought tolerance and discuss how novel, advanced technologies will help study promising, genetically engineered food crops under field growing conditions.

"With limited water supply continuing to constrain food crop production, understanding and improving crop tolerance to drought is a grand challenge for 21st century biology and medicine, and to feed a massive world population," says OMICS Editor-in-Chief Vural zdemir, MD, PhD, DABCP, Gaziantep University, Faculty of Communications and Office of the President, Gaziantep, Turkey, and Co-Founder, the Data-Enabled Life Sciences Alliance International (DELSA Global), Seattle, WA. "Transcription factors are veritable candidates for innovation in the next generation of transgenic crops because of their natural role in plant growth and development. Field studies (not only greenhouse measures) will provide additional insights to measure their actual impact and innovation. This state of the art review article offers a timely analysis and topline summary distilled from the past several decades of leading literature."

###

About the Journal

OMICS: A Journal of Integrative Biology is an authoritative peer-reviewed journal published monthly online, which covers genomics, transcriptomics, proteomics, metabolomics, and multi-omics innovations. The Journal explores advances in the era of post-genomic biology and medicine and focuses on the integration of OMICS, data analyses and modeling, and applications of high-throughput approaches to study biological problems. Social, ethical, and public policy aspects of the large-scale biology and 21st century data-enabled sciences are also considered. Complete tables of content and a sample issue may be viewed on the OMICS website.

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Can genetic engineering help food crops better tolerate drought?

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, NY, September 25, 2014The increasing popularity of social media, online dating sites, and mobile applications for meeting people and initiating relationships has made online dating an effective means of finding a future spouse. The intriguing results of a new study that extends this comparison of online/offline meeting venues to include non-marital relationships, and explores whether break-up rates for both marital and non-marital relationships differ depending on whether a couple first met online or offline are reported in an article in Cyberpsychology, Behavior, and Social Networking, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Cyberpsychology, Behavior, and Social Networking website until October 25, 2014.

In the article "Is Online Better Than Offline for Meeting Partners? Depends: Are You Looking to Marry Or to Date?" Aditi Paul, Michigan State University, East Lansing, provides data showing higher break-up rates for couples who met online compared to offline whether they were in marital or non-marital romantic relationships. Additional factors besides the meeting venue can help predict whether a couple will stay together or break up, according to the author; these may differ for marital versus non-marital relationships and include the quality and duration of the relationship.

"The time-tested qualities of trust and intimacy still remain important factors on determining whether a couple stays together, regardless of whether they meet offline or online," says Editor-in-Chief Brenda K. Wiederhold, PhD, MBA, BCB, BCN, Virtual Reality Medical Institute, Brussels, Belgium and Interactive Media Institute, San Diego, California.

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About the Journal

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

About the Publisher

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Looking for a spouse or a companion

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PUBLIC RELEASE DATE:

25-Sep-2014

Contact: Alison Trinidad alison.trinidad@usc.edu 323-442-3941 University of Southern California - Health Sciences

LOS ANGELES A multi-institutional team of researchers studying schizophrenia and bipolar disorder has been awarded a $16 million grant from the National Institute of Mental Health (NIMH) to create the most extensive genetic resource to date for these two devastating psychiatric disorders, using data assembled by the University of Southern California (USC).

The four-year award, shared by USC, the University of Michigan and the Broad Institute Inc., will help fund a project titled: "Whole Genome Sequencing of Schizophrenia and Bipolar Disorder in the Genomic Psychiatry Cohort (GPC)."

Keck School of Medicine of USC researchers Carlos N. Pato, M.D., Ph.D., Franz Alexander Professor and chair of the Department of Psychiatry and Behavioral Sciences and Michele Pato, M.D., professor and Della Martin Chair of Psychiatry, created the GPC, which includes more than 37,000 participants who have agreed to provide DNA samples for genomic, epidemiological and clinical studies.

"The GPC is a cohort of patients and controls who have agreed to partner with us in extensive genomic studies of human heredity, ranging from normal function to a variety of illnesses," said Carlos N. Pato, principal investigator of the new award. "This study will greatly increase the data available on the human genomic sequence. By design, it will help us study schizophrenia and bipolar disorder, but this resource should prove extremely important for understanding the role of the human genome in a broad set of disorders and in normal human functions."

Schizophrenia and bipolar disorder are chronic, disabling and often life-threatening. Despite estimated lifetime prevalence of just more than 1 percent worldwide and their burden on individuals, families and public health, little is known about the molecular basis of the disorders. The high heritability of these disorders which involve five- to 10-fold increased risk to first-degree relatives indicates that potential insights about their molecular basis may be found in the ways in which genome sequences vary from person to person. Better understanding of the genetic basis of schizophrenia and bipolar disorder could identify molecular mechanisms for novel drugs, therapies and preventive strategies.

"The failures and successes of genetic analyses over the past 15 years have shown that schizophrenia and bipolar disorder are highly polygenic illnesses, which means that making meaningful observations about the genetic basis of schizophrenia and bipolar disorder will require analyzing the largest possible number of genomes," said Michele Pato. "The important challenge is not only to find variants that affect the function or expression of a gene, but to find the subset of variants that truly matters to psychiatric illness."

The study will sequence total genomic DNA from 10,000 or more ethnically diverse individuals from the GPC, split evenly among schizophrenia cases, bipolar disorder cases and psychiatrically normal controls. The resulting genome sequence data will be processed to obtain the most informative view of the genomes for these individuals. The team will also conduct association analyses within these and other available sequence data, and through genotype imputation with the Psychiatric GWAS Consortium comprising approximately 100,000 additional genomes, to identify genetic variants associated with schizophrenia and bipolar disorder.

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National team awarded $16 million NIH grant to study genetics of schizophrenia and bipolar disorder

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