Archive for the ‘Gene Therapy Research’ Category

Time Capsule Tuesday Letter Reading by Peter Tishler, MD, Division of Genetics
In 1963, Peter Bent Brigham Hospital leadership sealed a time capsule that included letters from notable hospital staff of that era. In this video, Peter Tishler, MD, Division of Genetics,...

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Time Capsule Tuesday Letter Reading by Peter Tishler, MD, Division of Genetics - Video

Genetics Show Cousins Across the World
UC Davis geneticist Graham Coop discusses new work showing that people across Europe, and probably the world, are cousins who share many ancestors in just th...

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Genetics Show Cousins Across the World - Video

Human Genetics Project 2013 Explanation behind Starcraft 2 #39;s Marine
This is my project for BIOL1309 These claims are all theory, not actual fact.

By: Randy Vo

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Human Genetics Project 2013 Explanation behind Starcraft 2's Marine - Video

2013 Focus Genetics Private Treaty Sale Introduction
http://www.focusgenetics.com.

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2013 Focus Genetics Private Treaty Sale Introduction - Video

VERTEBRAL SUBLUXATIONS AND HUMAN GENETICS
Each of the 100 trillion cells in the human body (with the exception of red blood cells) contains the entire human genome mdash;all of the information necessary to build a human being. This information...

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VERTEBRAL SUBLUXATIONS AND HUMAN GENETICS - Video

Gene Therapy Final
My First Project.

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Gene Therapy Final - Video

Salt Lake City, UT (PRWEB) May 09, 2013

Academic and industry leaders in gene and cell therapy will be featured at an American Society of Gene & Cell Therapy (ASGCT) Media Event in Salt Lake City, Utah, on Thursday, May 16th, from 9:40 am 10:20 am, followed immediately by a one-on-one interview session with ASGCT scientists at 10:20 am 11:45 am. The American Society of Gene and Cell Therapy boasts of a membership consisting of experts bringing clinical breakthroughs to a wide array of diseases and disorders. These advances are positioned to bring meaningful therapies to children and adults, including those suffering from both inherited and acquired illnesses.

The event will profile exciting clinical results reported in patients suffering from serious and often deadly diseases such as liver cancer, ovarian cancer, lymphoma, hemophilia, and many more. For further details, please consider the following examples:

ASGCT scientists will report dramatic results in children and adult patients with Leukemia using gene-modified immune cells that kill tumors specifically while sparing normal tissues in patients. After injected into the blood stream, these cells performed a seek-and-destroy mission of the cancer cells in patients that led to complete remission of their diseases.

Late stage clinical development of live viruses that reproduce only in cancer cells but not normal tissues which, after injection into cancer patients, acted like laser-guided smart bombs that destroyed the tumors without major side effects.

Groundbreaking work will be reported for the orphan disease Aromatic L-Amino Acid Decarboxylase (AADC). This is a progressive fatal disorder whereby children lose all of their motor abilities and die by the age of six years as their parents helplessly stand by. Children who could not sit or control their head movement were treated with gene therapy and have demonstrated remarkable improvement.

Hemophilia researchers have successfully treated men living with this bleeding disorder with gene therapy. These patients, who had spent their entire lives being injected with life-saving clotting factors, have discontinued protein replacement altogether. Investigators have also treated children born with devastating genetic illnesses such as Pompe Disease.

The press event will take place in Room 150ABC in the Salt Palace Convention Center.

Members of the media will also receive complimentary full-access registration to the ASGCT 16th Annual Meeting at the Salt Palace Convention Center. Media representatives who wish to attend may contact ASGCT directly at 414.278.1341 or info(at)asgct(dot)org.

The American Society of Gene & Cell Therapy (ASGCT) is a professional nonprofit medical and scientific organization dedicated to the understanding, development and application of genetic and cellular therapies and the promotion of professional and public education in the field. For more information on ASGCT, visit its website, http://www.asgct.org.

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A Media Event on Clinical Developments in Gene and Cell Therapy

David Baylink, MD, left, professor of medicine at Loma Linda University, asks a

question during the bacterial therapeutics panel discussion at the Cell-Based

Therapeutics symposium at UCSF, while Carl June, MD, right, listens.

Old-line pharmaceutical companies and maturing biotech businesses both are graybeards compared to newer ventures focused on cell therapy.

With cell therapy the drugs are alive. Cells are engineered and reprogrammed outside the body to perform specific tasks and then given as treatment.

Cells are like soft robots, said Wendell Lim, PhD, director of the Center for Systems & Synthetic Biology at UC San Francisco and an organizer Cell-Based Therapeutics: The Next Pillar of Medicine, a daylong symposium held at UCSFs Mission Bay campus last month.

Lim and other scientists aim to take advantage of the modules that already function within cells, and to manipulate them for specific therapeutic goals sometimes by introducing new functions.

We want to build therapeutic cells with precisely controlled activities, Lim said. We want to control how cells proliferate, where they go, how they are activated and how to turn them off or even destroy them when they are no longer needed.

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Cell Therapy Promise Highlighted at UCSF Symposium

PORT ST. LUCIE, Fla.--(BUSINESS WIRE)--

Keith Knutson, Ph.D., Program Director, Oncology, of the Vaccine & Gene Therapy Institute of Florida (VGTI Florida) was selected as a new committee member to the National Institutes of Health (NIH) Tumor Microenvironment (TME) Study Section with the Center for Scientific Review (CSR).

Members of CSR study sections are invited to participate on the basis of their demonstrated aptitude and successes in their scientific discipline as shown by their publications in research journals and scientific activities, achievements, and honors.

The TME Study Section reviews grant applications that deal with the basic mechanisms between tumors and host systems. The emphasis of the study is on evaluation of a tumor as an organ-like structure with complex and dynamic cross-talk. The studies have an emphasis on translational work in human cells, a focus at VGTI Florida.

The CSR receives all research grant applications sent to NIH, and handles the review of more than 70% of those by organizing peer-review groups (study sections) to evaluate the applications. The mission of the CSR is to see that NIH grant applications receive objective, independent, expert, and timely reviews, free from inappropriate influences, ensuring that the NIH can fund the most promising research.

Participating in this Study Section will allow me the opportunity to network with other top scientists in oncology research, bringing back new knowledge and insights to share with my colleagues at VGTI Florida, said Dr. Knutson.

Dr. Knutson and several members of his lab joined VGTI Florida in February 2013 from the Mayo Clinic in Rochester, Minnesota. His research work focuses on the immunology and immunotherapy of breast and ovarian cancers and how vaccines can help boost the bodys immune system to help fight off these cancers that affect so many people today.

Participation in a study section requires deep knowledge, responsible judgment and objectivity, as well as the ability to work effectively in a group, said Mel Rothberg, Chief Operating Officer at VGTI Florida, Dr. Knutson possesses each of these traits and we are very proud to have him included in this prestigious committee.

About VGTI Florida:

VGTI Florida is an immunological research institute that is on an urgent mission to transform scientific discoveries into novel treatments and cures for existing and emerging infectious diseases, influenza and cancer. VGTI Florida is an independent non-profit 501(c)(3) organization located in the Tradition Center for Innovation in Port St. Lucie, Florida. For more information, please visit http://www.VGTIFL.org. VGTI Florida is a Trademark of the Vaccine & Gene Therapy Institute of Florida.

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VGTI Florida Scientist Selected for a Peer-Review Panel for the National Institutes of Health

Washington, May 8 (ANI): A modern-day person living in the United Kingdom shares ancestors with people across the Europe, according to a new study of the DNA of people from across the continent.

It suggests that Europeans are basically one big family, closely related to one another for the past thousand years.

"What's remarkable about this is how closely everyone is related to each other. On a genealogical level, everyone in Europe traces back to nearly the same set of ancestors only a thousand years ago," said study co-author Graham Coop, a professor of evolution and ecology at the University of California, Davis.

"This was predicted in theory over a decade ago, and we now have concrete evidence from DNA data," Coop said, adding that such close kinship likely exists in other parts of the world as well.

Coop and co-author Peter Ralph, now a professor at the University of Southern California, set out to study relatedness among Europeans in recent history, up to about 3,000 years ago. Drawing on the Population Reference Sample (POPRES) database, a resource for population and genetics research, they compared genetic sequences from more than 2,000 individuals.

As expected, Coop and Ralph found that the degree of genetic relatedness between two people tends to be smaller the farther apart they live. But even a pair of individuals who live as far apart as the United Kingdom and Turkey - a distance of some 2,000 miles - likely are related to all of one another's ancestors from a thousand years ago.

Subtle local differences, which likely mark demographic shifts and historic migrations, exist on top of this underlying kinship, Ralph said. Barriers like mountain ranges and linguistic differences have also slightly reduced relatedness among regions.

Coop noted, however, that these are all relatively small differences.

To learn about these patterns, Ralph and Coop used ideas about the expected amount of genome shared between relatives of varying degrees of relatedness. For example, first cousins have grandparents in common and share long stretches of DNA.

Ralph and Coop looked for shorter blocks of DNA that were shared between cousins separated by many more generations.

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Gene study reveals Europeans are one big family

Europeans all shared a common ancestor just 1,000 years ago, new genetic research reveals.

Scientists drew this conclusion, detailed today (May 7) in the journal PLOS Biology, by calculating the length of regions of shared DNA from 2,000 Europeans.

The same technique hasn't been applied to other continents, but people in other parts of the world are just as likely to be closely related, the researchers said.

"In fact, it's likely that everyone in the world is related over just the past few thousand years," said study co-author Graham Coop, a geneticist at the University of California, Davis. [The 10 Things That Make Humans Unique]

All in the family

For more than a decade, researchers calculated theoretically that all people shared common ancestors fairly recently.

To test that theory, Coop and his colleagues analyzed 500,000 spots on the genome of Europeans, from Turkey to the United Kingdom. To untangle European ancestry, they calculated the length of shared segments of DNA, or the molecules that contain the genetic instructions for life. When two people share a longer stretch of identical DNA, they are likely to share a more recent common ancestor, since over time those gene segments evolve and diversify.

The researchers found that all Europeans shared a common ancestor just 1,000 years ago.

There were also some regional surprises.

For instance, Italians are slightly less related to one another than people from other European countries are to one another, perhaps because Italians have had a large, fairly stable population for a few thousand years.

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Europeans All Closely Related, Gene Study Shows

Newswise LA JOLLA, CA May 9, 2013 A team led by scientists at The Scripps Research Institute (TSRI) has found how to boost or inhibit a gene-silencing mechanism that normally serves as a major controller of cells activities. The discovery could lead to a powerful new class of drugs against viral infections, cancers and other diseases.

Learning to control natural gene silencing processes will allow an entirely new approach to treating human disease, said Ian J. MacRae, assistant professor in TSRIs Department of Integrative Structural and Computational Biology and principal investigator for the study, which appears as the cover story in the May 9, 2013 issue of the journal Molecular Cell.

A Scientific Mystery and Technical Conundrum

The gene-silencer in question is Argonaute 2, a molecular machine in cells that can grab and destroy the RNA transcripts of specific genes, preventing them from being translated into proteins. Argonaute 2 and other Argonaute proteins regulate the influence of about a third of the genes found in humans and other mammalsand thus are among the most important modulators of our cells day-to-day activities. Argonautes gene-silencing functions also help cells cope with rogue genetic activity from invading viruses or cancer-promoting DNA mutations.

Yet Argonautes workings are complex and not yet entirely understood. For example, before it starts a search-and-destroy mission against a specific type of target RNA, an Argonaute 2 protein takes on board a target-recognition device: a short length of guide RNA, also known as a microRNA (miRNA). The miRNAs sequence is mostly complementary to the target RNAsa sort of chemical mirror-imageso that it can stick tightly to it.

But how do an Argonaute protein and its miRNA guide, having formed their partnership, manage to part company? It has been a scientific mystery and technical conundrum for researchers, who have found it hard to separate Argonaute proteins from miRNAs in the lab dish.

That problem led us to look for a way to get Argonautes to unload these miRNAs, said Nabanita De, a postdoctoral fellow in MacRaes laboratory who was first author of the new study.

Matches and Mismatches

In an initial set of experiments, the team demonstrated that when an miRNA hooks up with an Argonaute 2, the pair do remain locked together and functioning for an exceptionally long time: days to weeks, whereas solo miRNA normally is degraded within minutes.

Yet prior studies by other laboratories have hinted at the existence of mechanisms that can hasten the separation of miRNAs from Argonautes. Some viruses, for example, produce decoy target RNAs that virtually nullify the activity of the corresponding miRNAs, seemingly by destabilizing the miRNA-Argonaute pairing. A key feature of these decoy target RNAs is that they make an almost perfect complementary match to the miRNAsespecially at one end of the miRNAs, known as the three-prime or 3 end. In this respect, they match the miRNAs much better than the natural gene transcripts that the miRNAs evolved to target.

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Scientists Find Key to Gene-Silencing Activity

MT. FREEDOM, NJ--(Marketwired - May 8, 2013) - The Sturge-Weber Foundation (SWF) joins patients, families, physicians, researchers and government agencies in celebrating the identification of the gene mutation responsible for the rare neurological condition Sturge-Weber syndrome (SWS) and port-wine birthmarks. The new research, published online today in the New England Journal of Medicine (Epub ahead of print), is the most significant medical advance in the pursuit of a cure for SWS. As a proud founding member of the Brain Vascular Malformation Consortium that made this breakthrough discovery, SWF and its members donated tissue samples and funds to advance this research.

"After 25 years of searching, we finally understand the genetic cause of Sturge-Weber syndrome. We are excited to lead and support continued research to translate this science into new treatment approaches for patients," said Karen L. Ball, the founder, president and chief executive officer of the SWF. "The discovery of this genetic mutation shows what can happen when researchers, patient organizations and government agencies work together toward a common goal."

Sturge-Weber syndrome is a rare neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. Port-wine birthmarks occur in three in 1,000 newborns. While no population-based data exist for how many people have SWS, estimates range between one in 20,000 to 50,000 newborns.1 Prior to this latest research there was no known cause for the disorder. Although treatments are available for many of the complications of the disease, more research is needed to understand how to prevent the medical and developmental problems resulting from it.

In the New England Journal of Medicine paper, researchers found a mutation in the GNAQ gene on chromosome 9q21 in three individuals with SWS whose affected and unaffected tissue and blood samples underwent whole genome sequencing. In a separate analysis, researchers detected the mutation in 23 of 26 tissue samples from patients with SWS, most of which were donated by members of SWF, and in 12 of 13 samples from patients with isolated port-wine birthmarks. The mutation was not present in the control samples and in most of the unaffected samples. The genetic mutation in the GNAQ gene is somatic, which means it occurs after conception and is not inherited or passed on to children. Notably, the GNAQ gene is the same gene that causes uveal (intraocular) melanoma, a type of melanoma that occurs in the middle layer of the wall of the eye.

"We are thrilled to have found the gene mutation responsible for Sturge-Weber syndrome," stated Jonathan Pevsner, Ph.D., Director of Bioinformatics at theKennedy Krieger Institute and co-senior author of the study. "This allows us to understand the cause of both Sturge-Weber syndrome and port-wine birthmarks, and to begin moving toward treatments. We even found a surprising connection between Sturge-Weber syndrome and a form of melanoma that affects the eye. We greatly appreciate the enormous contributions of the Sturge-Weber Foundation and the collaboration between colleagues at Kennedy Krieger Institute, Duke University and elsewhere. We could not have made this discovery without their passion and enthusiasm."

Researchers, clinicians and families affected by Sturge-Weber syndrome will convene for the 13th Sturge-Weber Foundation International Conference, July 25-27 in Denver, Colorado to discuss the implications of this research and other new developments in the pursuit of a cure for this disorder.

About Sturge-Weber SyndromeSturge-Weber syndrome (encephelotrigeminal angiomatosis) is a congenital, non-familial disorder of unknown incidence. It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with SWS can include eye and internal organ irregularities. Each case of SWS is unique and exhibits the characterizing findings to varying degrees.

About the Sturge-Weber FoundationSince its founding in 1987, the Sturge-Weber Foundation (SWF), a 501 (c) (3) not-for-profit organization, has provided information, education and friendly support to adults and families of children with Sturge-Weber syndrome (SWS), a neurological disorder characterized by a facial port-wine birthmark and neurological abnormalities, including seizures and glaucoma. In 1992, the SWF expanded its outreach to include Klippel-Trenaunay (KT), a vascular disorder involving a port-wine birthmark on the body or a limb. The SWF has initiated and supported comprehensive clinical and basic research into the diagnosis and treatment of these conditions, including the establishment of 10 Centers of Excellence in cities throughout the United States. These centers provide the comprehensive care necessary for treating adults and children who have a port-wine birthmark, SWS or KT. The SWF continues to collaborate, translate the research, and improve the quality of life and care for people with SWS and associated port-wine birthmark conditions. For more information, visit http://www.sturge-weber.org and on Facebook at http://www.facebook.com/pages/The-Sturge-Weber-Foundation/231991960556.

About the Brain Vascular Malformation ConsortiumThe BVMC is an integrated group of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research in different forms of brain vascular malformations and improving the care of patients with Sturge-Weber syndrome, capillary cavernous malformations, and hereditary hemorrhagic telangectasias. Funded by the National Institutes of Health (NIH), the BVMC is part of the Rare Diseases Clinical Research Network. The operations of the BVMC are directed from the University of California San Francisco and the primary BVMC Study Sites which include Duke University Medical School, Harvard Medical School-Children's Hospital of Boston, Nationwide Children's Hospital, Barrows Neurological Institute, Wayne State University, Kennedy Krieger Institute, Emory University, Laser and Skin Surgery Center/NYU, and Baylor College of Medicine-Texas Children's Hospital.

1 Comi AM. Update on Sturge-Weber syndrome: diagnosis, treatment, quantitative measures, and controversies. Lymphatic Research and Biology. 2007 Dec; 5(4): 257-264. doi:10.1089/lrb.2007.1016.

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New England Journal of Medicine Publishes Discovery of Gene Mutation That Causes Sturge-Weber Syndrome and Port-Wine ...

Hoping to give new meaning to the term "natural light," a small group of biotechnology hobbyists and entrepreneurs has started a project to develop plants that glow, potentially leading the way for trees that can replace electric streetlamps and potted flowers luminous enough to read by.

The project, which will use a sophisticated form of genetic engineering called synthetic biology, is attracting attention not only for its audacious goal, but for how it is being carried out.

Rather than being the work of a corporation or an academic laboratory, it will be done by a small group of hobbyist scientists in one of the growing number of communal laboratories springing up around the nation as biotechnology becomes cheap enough to give rise to a do-it-yourself movement.

The project is also being financed in a DIY sort of way: It has attracted more than $250,000 in pledges from about 4,500 donors in about two weeks on the website Kickstarter.

The effort is not the first of its kind. A university group created a glowing tobacco plant a few years ago by implanting genes from a marine bacterium that emits light. But the light was so dim that it could be perceived only if one observed the plant for at least five minutes in a dark room.

The new project's goals, at least initially, are similarly modest. "We hope to have a plant which you can visibly see in the dark (like glow-in-the-dark paint), but don't expect to replace your light bulbs with version 1.0," the project's Kickstarter page says.

But part of the goal is more controversial: to publicize do-it-yourself synthetic biology and to "inspire others to create new living things". As promising as that might seem to some, critics are alarmed at the idea of tinkerers creating living things in their garages. They fear that malicious organisms may be created, either intentionally or by accident. Two environmental organizations, Friends of the Earth and the ETC Group, have written to Kickstarter and to the agriculture department, which regulates genetically modified crops, in an effort to shut down the glowing plant effort.

The project "will likely result in widespread, random and uncontrolled release of bioengineered seeds and plants produced through the controversial and risky techniques of synthetic biology," the two groups said in their letter demanding that Kickstarter remove the project from its website.

They note that the project has pledged to deliver seeds to many of its 4,000 contributors, making it perhaps the "first-ever intentional environmental release of an avowedly 'synthetic biology' organism anywhere in the world". Kickstarter told the critics to take up their concerns with the project's organizers. The agriculture department has not yet replied.

Antony Evans, the manager of the glowing plant project, said in an interview that the activity would be safe. "What we are doing is very identical to what has been done in research laboratories for 20 years," he said. Still, he added, "We are very cognizant of the precedent we are setting" with the do-it-yourself project and that some of the money raised would be used to explore public policy issues.

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Streetlamps out, glowing trees to light up roads?

Public release date: 8-May-2013 [ | E-mail | Share ]

Contact: Megan Lustig mlustig@spectrumscience.com 202-955-6222 Kennedy Krieger Institute

(Baltimore, MD) In new findings published on May 8, 2013 in the New England Journal of Medicine (Epub ahead of print), researchers from the Kennedy Krieger Institute reveal the discovery of the cause a genetic mutation that occurs before birth of Sturge-Weber syndrome (SWS) and port-wine stain birthmarks. SWS is a rare disorder affecting approximately one in 20,000 births, while port-wine birthmarks are more common, affecting approximately one million individuals in the United States.

"This is a complete game changer for those with Sturge-Weber syndrome and the millions born with port-wine birthmarks," said co-senior study author, Anne Comi, M.D., Director of the Kennedy Krieger Institute's Hunter Nelson Sturge-Weber Center. "Now that we know the underlying genetic mutation responsible for both conditions, we're hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time."

Sturge-Weber syndrome is a neurological and skin disorder associated with port-wine birthmarks on the face, glaucoma, seizures, intellectual impairment and weakness on one or both sides of the body. Current treatment options for children with SWS are limited, but include medications to reduce the likelihood of seizures and stroke-like episodes, eye drops and/or surgery to manage glaucoma, and physical rehabilitation.

Port-wine stain birthmarks are caused by abnormally dilated capillaries in the skin, which produce reddish to purplish discoloration. While a facial port-wine birthmark can be associated with SWS, they occur commonly in otherwise healthy individuals. Physicians may perform several painful laser treatments to attempt to remove the port-wine birthmark in infant children, but it often reoccurs.

"This study presents a turning point for research on Sturge-Weber syndrome and port-wine birthmarks," said Jonathan Pevsner, Ph.D., Director of Bioinformatics at Kennedy Krieger Institute and co-senior study author. "While we suspected that a somatic mutation was the cause for decades now, the technology to test the theory didn't exist. The advancements in whole genome sequencing and the development of next-generation sequencing tools finally allowed my lab to test and prove the hypothesis."

Dr. Pevsner's laboratory found the somatic mutation (a change in DNA that occurs after conception and affects only part of the body) that causes SWS and port-wine birthmarks by performing whole genome sequencing on affected and unaffected tissue and blood samples from three individuals with SWS. They were able to identify one somatic mutation shared by all three affected samples a nucleotide transition in gene GNAQ on chromosome 9q21. In a separate analysis, the researchers confirmed the finding by detecting the mutation in 23 out of 26 tissue samples from subjects with SWS and 12 out of 13 samples from subjects with isolated port-wine birthmarks. The control samples, and most of the unaffected samples, did not possess the mutation. These analyses also revealed the surprising outcome that the gene involved in SWS is the same gene implicated in uveal melanoma, a type of melanoma that occurs in the eye.

Collaborating with Kennedy Krieger scientists was Douglas Marchuk, Ph.D., and his team at Duke University Medical Center, who further illuminated GNAQ's role in SWS. Within the body, GNAQ encodes a set of membrane proteins that ensure a set of signaling pathways within the cell are working correctly. However, in both SWS and port-wine stains, a mutation occurs in GNAQ that causes those sets of pathways to increase their activity, ultimately resulting in both conditions.

With the discovery of the gene and pathway involved in SWS and port-wine stains, researchers can now begin investigating drugs that selectively inhibit the implicated pathways. The link to melanoma may also influence research and lead to new directions for the treatment of both conditions in the future.

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Discovery of gene mutation causing Sturge-Weber syndrome, port-wine stain birthmarks offers new hope

SAN FRANCISCO and BOSTON, May 8, 2013 (GLOBE NEWSWIRE) -- CollabRx, Inc. (CLRX), a data analytics company focused on informing the clinical interpretation of molecular diagnostic testing, and GeneInsight LLC., a leading developer of software to support knowledge management and reporting for genetic testing laboratories, today announced an agreement to deliver a unique medical informatics solution to support the interpretation and reporting of genetic variants from sequencing-based tests.

CollabRx and GeneInsight maintain that their joint initiative is designed to establish a robust medical informatics solution to support genetic sequencing, interpretation, and reporting in the clinical laboratory. GeneInsight has been in use since 2005 and has supported the interpretation and reporting workflow for more than 30,000 clinical genetic tests across multiple diagnostic reference laboratories.

Under terms of the agreement, CollabRx medical and scientific content will be made accessible through the GeneInsight knowledge management platform. Initially focused on oncology, the combined offering will be available to the clinical laboratory market.

"We are excited to work with GeneInsight to provide a key medical informatics capability to the genetic testing laboratory market to accelerate adoption of next generation sequencing-based tests for cancer and beyond," said Thomas R. Mika, CollabRx Chairman, President and Chief Executive Officer. "Our partnership with GeneInsight goes a long way towards enabling a truly integrated clinical laboratory workflow."

Organizing and clinically interpreting genetic sequence data is among the greatest challenges facing treating clinicians. The massive amount of information is overwhelming physicians and limits their ability to utilize genetic information to inform routine patient care, particularly for oncology. The combined offering in oncology will enable clinical laboratories to catalogue genetic variants from sequencing-based tests, and associate them with CollabRx's expertly curated knowledge on available drugs and clinical trials. Laboratories will have the option to incorporate this information into reports for treating physicians to enable increasingly informed treatment planning. Knowledge management, reporting and delivery of findings to ordering clinicians will be streamlined through GeneInsight's networked infrastructure, providing clinical laboratories the means to update physicians as knowledge evolves so they can effectively manage patient care.

"The CollabRx and GeneInsight collaboration will enable laboratories using GeneInsight to leverage CollabRx content as they draft reports explaining the significance of variants identified in patients," said Heidi Rehm, PhD, Chief Laboratory Director, Partners' Laboratory for Molecular Medicine. "When it comes to diagnosing and developing treatments, we work closely with scientists and clinicians at Massachusetts General Hospital and Brigham and Woman's Hospital to advance patient care. We are thrilled to work with CollabRx and its more than 75 leading independent clinical practitioners to accelerate adoption of clinical sequencing in cancer."

About CollabRx

CollabRx, Inc. (CLRX) is a recognized leader in cloud-based expert systems to inform healthcare decision-making. CollabRx uses information technology to aggregate and contextualize the world's knowledge on genomics-based medicine with specific insights from the nation's top cancer experts, starting with the area of greatest need: advanced cancers in patients who have effectively exhausted the standard of care. More information may be obtained at http://www.collabrx.com.

About GeneInsight

GeneInsight, LLC is a wholly-owned subsidiary of Partners HealthCare. GeneInsight Suite(R) was developed by Partners HealthCare in collaboration with leading geneticists, laboratory operations personnel, practicing physicians and IT professionals. GeneInsight has been in clinical use since 2005 and has supported the interpretation and reporting workflow for more than 30,000 clinical genetic tests across multiple diagnostic reference laboratories, including the Partners HealthCare Laboratory for Molecular Medicine. More information can be obtained at http://www.geneinsight.com.

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CollabRx and GeneInsight to Collaborate on Interpretation and Reporting Service for Clinical Genetic Sequencing

IRVINE, Calif., May 8, 2013 /PRNewswire/ -- Aviir Inc., a biotechnology company dedicated to the prevention of cardiovascular disease through innovative laboratory tests, announced that it will be extending its offered services with comprehensive inherited cardiovascular disease genetic test menu.

(Logo: http://photos.prnewswire.com/prnh/20130319/LA79677LOGO)

The newly validated tests cover the major causes of cardiomyopathies, arrhythmia disorders, and other genetically transmitted diseases that affect the heart and vasculature. Each test is available for testing in both individual and familial settings. Two comprehensive panels are available to check for undiagnosed arrhythmia or cardiomyopathy.

"Aviir's mission is to identify and prevent cardiovascular diseases, and subsequent deaths, through the best diagnostic means available," said Doug Harrington, M.D., CEO of Aviir. "To this end we've added a comprehensive list of inherited cardiovascular disease testing to our menu. This type of testing can be the difference between effective disease management and needless risk of sudden cardiac death. The novel approach Aviir has taken to identify disease-causing genetic variants allows for not only an unprecedented level of thoroughness (ie. 100% coverage of the disease-causing genes), but also for unmatched speed in returning results to physicians and patients."

Genetic testing can help determine a successful course of treatment for the patient, as well as identify any familial testing needs resulting from a positive result. In many instances the first indication that an individual is affected is sudden cardiac death, hence, testing is key to preventing a catastrophic event. This information can lead a patient to make successful lifestyle changes and pursue therapy to live a healthy and successful life despite the disease.

About Aviir

Aviir was founded in 2005 by cardiologists and scientists from the Stanford University School of Medicine to focus on discovery, development and commercialization of innovative diagnostic tests. The biotechnology company specializes in developing proprietary diagnostic tests to assist in identifying patients who are truly at high risk for the development of a cardiac event. Aviir's proprietary MIRISK and MIRISK VP assessments objectively identify, using a single blood draw, individuals who are at a high risk of experiencing a cardiac event over the next five years. Aviir's CLIA certified laboratory (Irvine, CA) complements these novel tests with a wide range of additional tests for heart health assessment and therapeutic monitoring of cardiovascular disease and related metabolic disorders including pharmacogenomic and genetic tests. The company has adopted a unique clinical laboratory service model to provide physicians better diagnostic tools to help improve the cardiovascular health of their patients. The company is privately owned and funded by leading life science venture capital firms. Aviir Inc., also offers testing across the molecular genetic spectrum, including pharmacogenetics, Leiden factor, and ApoE testing. Please visit http://www.aviir.com for more information.

Company Contacts:Matt Clawson Life Capital Partners 949.370.8500

For media inquiries, please contact: Tamara York Tamara York Public Relations, LLC 212.967.8300

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Aviir Inc., Launches Complete Cardiovascular Genetic Testing

Public release date: 8-May-2013 [ | E-mail | Share ]

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

Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia a lack of muscle coordination and dementia. In a paper that will appear in the May 23 New England Journal of Medicine and is receiving early online release, the investigators describe finding mutations in one or both of two genes involved in a cellular process called ubiquitination in affected members of five unrelated families.

"This study highlights, for the first time, the importance of the ubiquitin system in a syndrome characterized by ataxia and hypogonadotropic hypogonadism reproductive failure due to abnormal signaling from the brain or pituitary gland," says Stephanie Seminara, MD, of the Reproductive Endocrine Unit in the MGH Department of Medicine, co-senior author of the report. "It also demonstrates how combining robust genomics with detailed functional assays can unlock complex genetic architecture."

Caused by lesions in the part of the brain responsible for coordination and balance, cerebellar ataxia can begin with difficulty walking or speaking and progress to complete disability of those functions. Genes associated with several syndromes characterized by ataxia have been identified, but none had previously been associated with the rare combination of ataxia and reproductive failure, which was first described more than 100 years ago. Several such patients have been referred to the MGH Reproductive Endocrine Unit, including a Palestinian family with several affected members who also developed dementia.

Seminara notes that, while ataxia and hypogonadotropic hypogonadism each may have several possible genetic causes, the combination of both conditions is so rare that it is more likely to be caused by mutations in a particular gene or related genes. In collaboration with researchers from the Center for Human Disease Modeling at Duke directed by Nicholas Katsanis, PhD, co-senior author of the NEJM article her team conducted whole-exome sequencing of DNA from an affected member of the Palestinian family. That screening found rare variants in both copies of 13 genes, and two of those variants were also found in samples from the patient's two affected siblings but not in several unaffected family members.

Both of the mutated genes are involved in ubiquitination, a process by which cellular proteins are marked for degredation by a protein called ubiquitin. One of them, RNF216, codes for an enzyme that attaches ubiquitin to the protein; the other, OTUD4, codes for a protein that removes ubiquitin. The researchers then sequenced both of these proteins in samples from an additional nine affected individuals from seven different families. They found that one of those individuals had two different RNF216 mutations, four others two in the same family had mutations in a single copy of that gene, but none had mutated versions of OTUD4.

All of the individuals with RNF216 mutations had similar medical histories, characterized by a lack of normal hormonal secretion, progressive ataxia and dementia; and all of those with mutations in both genes died in their 30s or 40s. Neuroimaging studies revealed similar brain abnormalities including atrophy of the cerebellum and cortex in individuals with RNF216 mutations. The four studied individuals without RNF216 mutations had very different histories, with less severe symptoms.

To get a better idea of the functional consequences of mutations in these two genes, the researchers disrupted their expression in zebrafish and found that blocking either RNF216 or OTUD4 caused disorganization of the cerebellum and reduced the size of eyes and a portion of the midbrain. The abnormalities were even greater when both genes were blocked but could be eliminated if production of the relevant proteins was induced by the introduction of the corresponding human RNA.

"The presence of RNF216 mutations in several familes made its role in causing this syndrome clear, but finding OTUD4 mutation in only one family raised the question of whether it actually contributed to the disease or was just an 'innocent bystander'," says Katsanis. "The zebrafish work provided critical evidence that both genes function in a common pathway, since blocking either of them produced similar effects. And the fact that blocking both genes had a synergistic effect lends further evidence to the two genes' operating in the same pathway and to the contribution of OTUD4 mutations to this syndrome."

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Mass. General, Duke study identifies 2 genes that combine to cause rare syndrome

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