Category Archives: Gene Medicine

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Newswise BOSTON -- Developing and testing a new anti-cancer drug can cost billions of dollars and take many years of research. Finding an effective anti-cancer medication from the pool of drugs already approved for the treatment of other medical conditions could cut a considerable amount of time and money from the process.

Now, using a novel bioinformatics approach, a team led by investigators at Beth Israel Deaconess Medical Center (BIDMC) has found that the approved antimicrobial drug pentamidine may help in the treatment of patients with advanced kidney cancer. Described online in the journal Molecular Cancer Therapeutics, the discovery reveals how linking cancer gene expression patterns with drug activity might help advance cancer care.

The strategy of repurposing drugs that are currently being used for other indications is of significant interest to the medical community as well as the pharmaceutical and biotech industries, says senior author Towia Libermann, PhD, Director of the Genomics, Proteomics, Bioinformatics and Systems Biology Center at BIDMC and Associate Professor of Medicine at Harvard Medical School. Our results demonstrate that bioinformatics approaches involving the analysis and matching of cancer and drug gene signatures can indeed help us identify new candidate cancer therapeutics.

Renal cell cancer consists of multiple subtypes that are likely caused by different genetic mutations. Over the years, Libermann has been working to identify new disease markers and therapeutic targets through gene expression signatures of renal cell cancer that distinguish these different cancer subtypes from each other, as well as from healthy individuals. In this new paper, he and his colleagues were looking for drugs that might be effective against clear cell renal cancer, the most common and highly malignant subtype of kidney cancer. Although patients with early stage disease can often be successfully treated through surgery, up to 30 percent of patients with renal cell cancer present with advanced stages of disease at the time of their diagnosis.

To pursue this search, they made use of the Connectivity Map (C-MAP) database (http://www.broadinstitute.org/cmap), a collection of gene expression data from human cancer cells treated with hundreds of small molecule drugs.

C-MAP uses pattern-matching algorithms to enable investigators to make connections between drugs, genes and diseases through common, but inverse, changes in gene expression, says Libermann. It provided us with an exciting opportunity to use our renal cell cancer gene signatures and a new bioinformatics strategy to match kidney cancer gene expression profiles from individual patients with gene expression changes inducted by various commonly used drugs.

After identifying drugs that may reverse the gene expression changes associated with renal cell cancer, the investigators used assays to measure the effect of the selected drugs on cells. This led to the identification of a small number of FDA-approved drugs that induced cell death in multiple kidney cancer cell lines. The investigators then tested three of these drugs in an animal model of renal cell cancer and demonstrated that the antimicrobial agent pentamidine (primarily used for the treatment of pneumonia) reduced tumor growth and enhanced survival. Gene expression experiments using microarrays also identified the genes in renal cell cancer that were counteracted by pentamidine.

One of the main challenges in treating cancer is the identification of the right drug for the right individual, explains first author Luiz Fernando Zerbini, PhD, of the International Center for Genetic Engineering and Biotechnology in Cape Town, South Africa, adding that this bioinformatics approach could be a particularly valuable lower-cost model in developing countries.

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Bioinformatics Approach Helps Researchers Find New Use for Old Drug

PUBLIC RELEASE DATE:

5-May-2014

Contact: Bonnie Prescott bprescot@bidmc.harvard.edu 617-667-7306 Beth Israel Deaconess Medical Center

BOSTON -- Developing and testing a new anti-cancer drug can cost billions of dollars and take many years of research. Finding an effective anti-cancer medication from the pool of drugs already approved for the treatment of other medical conditions could cut a considerable amount of time and money from the process.

Now, using a novel bioinformatics approach, a team led by investigators at Beth Israel Deaconess Medical Center (BIDMC) has found that the approved antimicrobial drug pentamidine may help in the treatment of patients with advanced kidney cancer. Described online in the journal Molecular Cancer Therapeutics, the discovery reveals how linking cancer gene expression patterns with drug activity might help advance cancer care.

"The strategy of repurposing drugs that are currently being used for other indications is of significant interest to the medical community as well as the pharmaceutical and biotech industries," says senior author Towia Libermann, PhD, Director of the Genomics, Proteomics, Bioinformatics and Systems Biology Center at BIDMC and Associate Professor of Medicine at Harvard Medical School. "Our results demonstrate that bioinformatics approaches involving the analysis and matching of cancer and drug gene signatures can indeed help us identify new candidate cancer therapeutics."

Renal cell cancer consists of multiple subtypes that are likely caused by different genetic mutations. Over the years, Libermann has been working to identify new disease markers and therapeutic targets through gene expression signatures of renal cell cancer that distinguish these different cancer subtypes from each other, as well as from healthy individuals. In this new paper, he and his colleagues were looking for drugs that might be effective against clear cell renal cancer, the most common and highly malignant subtype of kidney cancer. Although patients with early stage disease can often be successfully treated through surgery, up to 30 percent of patients with renal cell cancer present with advanced stages of disease at the time of their diagnosis.

To pursue this search, they made use of the Connectivity Map (C-MAP) database, a collection of gene expression data from human cancer cells treated with hundreds of small molecule drugs.

"C-MAP uses pattern-matching algorithms to enable investigators to make connections between drugs, genes and diseases through common, but inverse, changes in gene expression," says Libermann. "It provided us with an exciting opportunity to use our renal cell cancer gene signatures and a new bioinformatics strategy to match kidney cancer gene expression profiles from individual patients with gene expression changes inducted by various commonly used drugs."

After identifying drugs that may reverse the gene expression changes associated with renal cell cancer, the investigators used assays to measure the effect of the selected drugs on cells. This led to the identification of a small number of FDA-approved drugs that induced cell death in multiple kidney cancer cell lines. The investigators then tested three of these drugs in an animal model of renal cell cancer and demonstrated that the antimicrobial agent pentamidine (primarily used for the treatment of pneumonia) reduced tumor growth and enhanced survival. Gene expression experiments using microarrays also identified the genes in renal cell cancer that were counteracted by pentamidine.

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Bioinformatics approach helps researchers find new uses for old drug

(PRWEB) May 04, 2014

The Gene Expression Analysis Market by Technology (DNA Microarray, Real-Time PCR, Next Generation Sequencing), Consumables (DNA Chips, Reagents), Services (Gene Profiling, Bioinformatics, Data Analysis Software) & Applications - Global Forecast to 2018, published by MarketsandMarkets, global gene expression analysis market estimated at $2.6 billion in 2013 and is expected to reach $4.3 billion by 2018, growing at a CAGR of 10.4% from 2013 to 2018.

Browse 72 market data tables and 20 figures spread through 227 pages and in-depth TOC on Gene Expression Market http://www.marketsandmarkets.com/Market-Reports/gene-expression-analysis-market-156613968.html

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The Global Gene Expression Analysis Market was valued at $2.6 billion in 2013 and is expected to reach $4.3 billion by 2018, at a CAGR of 10.4% The Global Gene Expression Analysis Market (2013-2018) analyzes and studies the major market drivers and restraints in North America, Europe, Asia, and the Rest of the World (RoW).

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This report covers the definition, description, and forecast of the global market in terms of instrumentation, consumables, services, and applications. Based on technology, the gene expression analysis instrumentation market comprises DNA microarrays, real-time PCR, next-generation sequencing, and others. The consumables market is categorized into DNA chips and reagents, while the services market is further sub-segmented into gene expression profiling services, bioinformatics solutions, data analysis software, and others.

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The global gene expression analysis market is witnessing a significant growth and will continue to do so in the next five years. The factors contributing to this growth are increased funding scenario worldwide, increased government involvement, developments in research for diseases like cancer, and the use of gene expression in drug discovery and personalized medicine. The Asian region is projected to have the highest growth rate with growth hinged at China, India, and Japan. Apart from Asia, countries such as Turkey, Brazil, and South Africa too have a high projected growth.

Over the years, gene expression analysis has evolved significantly and is widely used for the diagnosis and treatment of various disorders like cancer, Alzheimers, and Parkinsons, among others. In the past few years, the market has witnessed significant technological advancements, as companies have introduced newer sequencing and analysis platforms. This has aided in the diagnosis and treatment of diseases. Increasing number of cancer patients, growth in the number of funding activities, technological advancements, and increased interest in gene expression for research and discovery are the major factors driving the growth of this market. Moreover, various government bodies have extended their help in the form of investments, funds, and grants, which has further stimulated the growth of the market.

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Gene Expression Market Worth $4.3 Billion by 2018 - New Report by MarketsandMarkets

SOUTH SAN FRANCISCO, Calif.and SAO PAULO, Brazil, May 2, 2014 /PRNewswire/ --Veracyte, Inc. (Nasdaq: VCYT) and Fleury Medicine and Health today announced a new partnership that will make Veracyte's Afirma Gene Expression Classifier (GEC) available to patients in Brazil, helping to reduce unnecessary surgeries and potentially lower costs there as part of thyroid cancer diagnosis. Financial terms of the agreement were not disclosed.

Through the agreement, Fleury, which has diagnostics centers across Brazil, will exclusively offer the Afirma GEC when patients' thyroid nodule fine needle aspiration (FNA) results are indeterminate not clearly benign or malignant following cytopathology review. Genzyme, Veracyte's global co-promotion partner, will promote the Afirma GEC to physicians throughout Brazil, who will order the test through Fleury. FNA samples for the Afirma GEC will be sent to Veracyte's CLIA-certified laboratory in South San Francisco, Calif., for analysis.

"We are pleased that physicians and patients in Brazil will now be able to benefit from the Afirma Gene Expression Classifier, which has already helped spare thousands of patients in the United States from unnecessary thyroid surgeries since its commercial launch here in 2011," said Bonnie H. Anderson, president and chief executive officer of Veracyte. "Fleury is one of the largest and most respected diagnostics centers in Brazil and currently offers FNA cytopathology testing to patients across the country, making it an ideal partner to direct indeterminate thyroid nodule cases to the Afirma GEC."

Veracyte's genomic test is used to identify patients whose thyroid nodules are benign following an indeterminate cytopathology result and who can thus potentially avoid unnecessary diagnostic surgery. Based on 2014 Brazilian National Cancer Institute (INCA) estimates of 9,050 newly diagnosed thyroid cancers per year, Veracyte and Fleury estimate that nearly 100,000 thyroid nodule FNAs are performed each year on patients in Brazil, with 15% to 30% of such FNAs assumed to be inconclusive. Traditionally, these patients have been directed to surgery, with most of such thyroid nodules ultimately proving to be benign.

"Traditional techniques for evaluating thyroid nodules are limited, leading many patients to undergo surgery to remove all or part of their thyroids just to get a diagnostic result. These surgeries are invasive, costly and often result in lifelong thyroid hormone replacement therapy for the patient," said Dr. Rosa Paula Mello Biscolla, specialist in endocrinology at Fleury Medicine and Health. "Use of the Afirma GEC will enable physicians to help many patients avoid a surgery they do not need. This will improve patient care and should help reduce healthcare costs."

The Afirma GEC's clinical utility and cost-effectiveness have been demonstrated in multiple, peer-reviewed, published studies and its performance was established in a clinical validation study published in the New England Journal of Medicine in 2012. It is the only molecular test with published validation data demonstrating that it meets the performance criteria established in National Comprehensive Cancer Network (NCCN) guidelines for safely monitoring thyroid nodules in lieu of diagnostic surgery.

About Fleury Medicine and HealthFleury Medicine and Health is a national benchmark indiagnostic medicine and it offers over3,000differenttestsin 37differentmedical specialties.The brand is alsoa precursorin the concept ofintegratedmedical centerthat offersacomplete diagnostic solution,medical adviceanddifferentiated services.Fleuryhas 23patient service centers in So Paulo, the biggest and most important city in Brazil.According to the Brazilian Institute of Public Opinion and Statistics (IBOPE) 2012 Survey, 74% of the physicians in Sao Paulo acknowledge Fleury as the best and most trusted brand for diagnostic medicine.

About VeracyteVeracyte (Nasdaq: VCYT) is pioneering the field of molecular cytology, focusing on genomic solutions that resolve diagnostic ambiguity and enable physicians to make more informed treatment decisions at an early stage in patient care. By improving preoperative diagnostic accuracy, the company aims to help patients avoid unnecessary invasive procedures while reducing healthcare costs. Veracyte's first commercial solution, the Afirma Thyroid FNA Analysis, utilizes the proprietary Gene Expression Classifier (GEC) to resolve ambiguity in thyroid nodule diagnosis. Each year, of the more than 525,000 thyroid nodule FNAs performed in the U.S., approximately 115,000 patients undergo diagnostic thyroid surgery, with 70% to 80% of nodules proving benign and thus the surgery unnecessary. Since the commercial launch of Afirma in January 2011, Veracyte has received over 80,000 FNA samples for evaluation using Afirma and has performed approximately 16,000 GECs to resolve indeterminate cytopathology results, as of December 31, 2013. Backed by multiple, peer-reviewed, published studies and included in leading medical guidelines, Afirma is covered by Medicare and major commercial payers, which collectively represent more than 120 million covered lives. Afirma is marketed and sold through a global co-promotion agreement with Genzyme Corporation, a subsidiary of Sanofi. Veracyte intends to expand its molecular cytology franchise to other clinical areas and is in late biomarker discovery for its first product in pulmonology. For more information, please visit http://www.veracyte.com.

Forward-Looking Statements This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the company's expectations regarding the adoption of the Afirma GEC by physicians and patients in Brazil, the ability of Fleury to successfully market and sell the Afirma GEC to physicians in Brazil, the ability to obtain any reimbursement necessary to the sale of such Afirma GEC and the potential regulation of the Afirma GEC by Brazilian regulatory bodies. Forward-looking statements involve risks and uncertainties, which could cause actual results to differ materially, and reported results should not be considered as an indication of future performance. These risks and uncertainties include, but are not limited to: our limited operating history and history of losses;our ability to increase usage of and reimbursement for Afirma, and any future products we may develop; our dependence on a few payers for a significant portion of our revenue; the complexity, time and expense associated with billing and collecting from payers for our test; laws and regulations applicable to our business, including potential regulation by the FDA or other regulatory bodies;our dependence on strategic relationships; our ability to develop and commercialize new products and the timing of commercialization; the occurrence and outcome of clinical studies; the applicability of clinical results to actual outcomes; the timing of publication of study results; our inclusion in clinical practice guidelines; our ability to compete; our ability to expand into international markets; our ability to obtain capital when needed; and other risks detailed under the heading "Risk Factors" in our filings with the Securities and Exchange Commission, including our Annual Report on Form 10-K for the year ended December 31, 2013. These forward-looking statements speak only as of the date hereof and Veracyte specifically disclaims any obligation to update these forward-looking statements.

Veracyte, Afirma, the Veracyte logo, and the Afirma logo are trademarks of Veracyte, Inc. This press release also contains trademarks and trade names that are the property of their respective owners.

Excerpt from:
Veracyte and Fleury Announce Partnership to Make the Afirma Gene Expression Classifier Available to Patients in Brazil

PUBLIC RELEASE DATE:

2-May-2014

Contact: Derik Hertel derik.hertel@dartmouth.edu 603-650-1211 The Geisel School of Medicine at Dartmouth

Dartmouth Institute for Quantitative Biomedical Sciences (iQBS) researchers developed a new gene expression analysis approach for identifying cancer genes. The paper entitled, "How to get the most from microarray data: advice from reverse genomics," was published online March 21, 2014 in BMC Genomics. The study results challenge the current paradigm of microarray data analysis and suggest that the new method may improve identification of cancer-associated genes.

Typical microarray-based gene expression analyses compare gene expression in adjacent normal and cancerous tissues. In these analyses, genes with strong statistical differences in expression are identified. However, many genes are aberrantly expressed in tumors as a byproduct of tumorigenesis. These "passenger" genes are differentially expressed between normal and tumor tissues, but they are not "drivers" of tumorigenesis. Therefore, better analytical approaches that enrich the list of candidate genes with authentic cancer-associated "driver" genes are needed.

Lead authors of the study, Ivan P. Gorlov, Ph.D., Associate Professor of Community and Family Medicine and Christopher Amos, Ph.D., Professor of Community and Family Medicine and Director of the Center for Genomic Medicine described a new method to analyze microarray data. The research team demonstrated that ranking genes based on inter-tumor variation in gene expression outperforms traditional analytical approaches. The results were consistent across 4 major cancer types: breast, colorectal, lung, and prostate cancer.

The team used text-mining to identify genes known to be associated with breast, colorectal, lung, and prostate cancers. Then, they estimated enrichment factors by determining how frequently those known cancer-associated genes occurred among the top gene candidates identified by different analysis methods. The enrichment factor described how frequently cancer associated genes were identified compared to the frequency of identification that one could expect by pure chance. Across all four cancer types, the new method of selecting candidate genes based on inter-tumor variation in gene expression outperformed the other methods, including the standard method of comparing mean expression in adjacent normal and tumor tissues. Dr. Gorlov and colleagues also used this approach to identify novel cancer-associated genes.

The authors cite tumor heterogeneity as the most likely reason for the success of their variance-based approach. The method is based on the knowledge that different tumors can be driven by different subsets of cancer genes. By identifying genes with high variation in expression between tumors, the method preferentially identifies genes specifically associated with cancer. This same feature, tumor heterogeneity, may reduce the ability to identify critical gene expression changes when comparing mean gene expression in adjacent tumor and normal tissues, as tumors of the same type may have different sets of genes differentially expressed.

The results of the study challenge the model that comparing mean gene expression in adjacent normal and cancer tissues is the best approach to identifying cancer-associated genes. Indeed, the team identified high variation in adjacent "normal" tissue samples, which are typically used as control samples for comparison in analyses based on mean gene expression. The study suggests that methods based on variance may help get the most from existing and future global gene expression studies.

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Continued here:
Novel analyses improve identification of cancer-associated genes from microarray data

PUBLIC RELEASE DATE:

1-May-2014

Contact: Leslie Orr Leslie_Orr@urmc.rochester.edu University of Rochester Medical Center

University of Rochester scientists have discovered a gene with a critical link to pancreatic cancer, and further investigation in mice shows that by blocking the gene's most important function, researchers can slow the disease and extend survival.

Published online by Cell Reports, the finding offers a potential new route to intrude on a cancer that usually strikes quickly, has been stubbornly resistant to targeted therapies, and has a low survival rate. Most recent improvements in the treatment of pancreatic cancer, in fact, are the result of using different combinations of older chemotherapy drugs. The research led by Hartmut "Hucky" Land, Ph.D., and Aram F. Hezel, M.D., of UR Medicine's James P. Wilmot Cancer Center, identifies a new target in the process of garbage recycling that occurs within the cancer cell called autophagy, which is critical to pancreatic cancer progression and growth.

Autophagy is derived from the Greek roots "auto" (self) and "phagein" (to eat), and is an intracellular digestive process that allows cells to survive under stress. During a cell's transformation from normal to malignant, autophagy speeds up to keep pace with rapid cellular changes and a tumor's quest to grow. The newly discovered PLAC-8 gene sustains the highly active recycling process, as it removes faulty proteins and organelles and degrades them into reusable building blocks during cancer progression.

"What makes this an exciting opportunity is that the gene we're studying is critical to the cancer cell's machinery but it is not essential to the function of normal cells," said Land, chair of Biomedical Genetics at the University of Rochester School of Medicine and Dentistry and director of research at Wilmot. "By targeting these types of non-mutated genes that are highly specific to cancer, we are looking for more effective ways to intervene."

The Cell Reports study underlines Wilmot's overall unique approach to cancer research. Rather than investigate single faulty genes linked to single subtypes of cancer, Rochester scientists have identified a larger network of approximately 100 non-mutated genes that cooperate and control the shared activities of many cancers. While investigating this larger gene network, Land and Hezel focused on PLAC-8.

Moreover, the team found that by inactivating PLAC-8 in mice and shutting down autophagy, they could significantly slow cancer's progression. The relevance of PLAC-8 may also extend to other tumors lung, colon, and liver, for example -- that share key genetic changes such as KRAS and p53 mutations that are present in the majority of pancreatic cancers. The breadth of these findings is an area of ongoing study in the Land and Hezel labs.

"PLAC-8 and its job within the cancer cell of accelerating recycling suggests new points of attack and what we all hope will be opportunities to identify and develop new treatments," said Hezel, vice chief of Wilmot's Division of Hematology and Oncology and a UR associate professor. "Our data showing PLAC 8's role in autophagy has great potential because while there are other drugs being evaluated to inhibit autophagy, not all of them target proteins specifically important to this process in tumors."

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Gene discovery links cancer cell 'recycling' system to potential new therapy

PUBLIC RELEASE DATE:

1-May-2014

Contact: Glenna Picton picton@bcm.edu 713-798-7973 Baylor College of Medicine

HOUSTON (May 1, 2014) -- A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

The study published online today in the American Journal of Human Genetics.

The Baylor researchers first studied a patient from Australia with these symptoms who had been seen by many doctors and had multiple diagnostic tests, without any diagnosis.

Although there was no family history of the disease, the researchers performed DNA sequence analysis on the patient and her parents to determine if there was an underlying genetic cause for her symptoms.

The results showed damaging mutations had newly arisen in five genes in the patient when compared with the parents DNA sequence.

One gene was a candidate for causing the disease because similar mutations were never seen in healthy control individuals.

"This led us to ask if there were any other undiagnosed disease cases that had similar mutations in this gene," said Dr. Fan Xia, assistant professor of molecular and human genetics and in the Whole Genome Laboratory at Baylor and the first author on the report.

Continued here:
A new syndrome caused by mutations in AHDC1

By Cathy Yarbrough, Contributing Editor

Gene therapy pioneer Katherine High, M.D., was looking forward to her first meeting in 2011 with Jeffrey Marrazzo, then a consultant to the CEO of Childrens Hospital of Philadelphia (CHOP). A veteran of three life sciences companies, Marrazzo was meeting with Dr. High and other CHOP leaders to identify potential new revenue streams for the hospital.

Dr. High, an international leader in gene therapy research and clinical application, had considered postponing the meeting because she was so busy with her work as director of the hospitals Center for Cellular and Molecular Therapeutics (CCMT). However, she did not reschedule because she wanted to ask Marrazzo for a favor: Could he speak with the VCs who were calling her and inquiring about investing in CCMTs work on RPE65?

I hadnt spoken to them yet, because at the time I was busier than usual with my patient care, research, and teaching responsibilities. In addition, VCs are not a constituency that I normally deal with, said Dr. High, professor of pediatrics at the University of Pennsylvania as well as a Howard Hughes medical investigator.

Scheduled to last just 60 minutes, Dr. Highs first meeting with Marrazzo stretched to seven hours and was followed by many more meetings to determine the best approach for advancing CCMTs gene therapy discoveries. The result was a commitment of $50 million from CHOP to fund a new biotech company, Spark Therapeutics, to design, evaluate, and commercialize gene therapies for disorders that can lead to blindness, hemophilia, and neurodegenerative diseases. The company, like the hospital, is headquartered in Philadelphia.

CHOPs serving as the sole equity investor in Spark is definitely a novel financing model for early corporate activities to develop novel therapeutics, said Marrazzo, now president, CEO, and cofounder of Spark. Every situation is unique, and the situation should dictate the model.

Sparks situation was unusual because long before the companys official launch in late 2013, many assets were already in place, said Marrazzo, who uncovered them during his seven-hour conversation with Dr. High. It was like peeling back the layers of an onion, with each layer representing another asset, he said.

The assets included two clinical trials, a Phase 3 trial to treat a rare form of hereditary blindness, and a Phase 1/2 trial targeting hemophilia B, as well as staff members with gene therapy expertise in regulatory affairs, clinical research, and the manufacture of clinical grade vectors to transport genetic material into targeted cells.

Assembled at the center were world experts in gene therapy, said Marrazzo. CHOP had been incubating a biotech company within its four walls.

GENE THERAPY ASSETS UNDERVALUED Before investing $50 million to launch and operate Spark Therapeutics, CHOP officials considered but ruled out a licensing deal with an existing biopharm company or a start-up with VC funding. While we did have licensing deals on the table, that route would not have recognized the value of the asset in part because of the broad retrenchment that had occurred in the industry after the tragic 1999 death of Jesse Gelsinger in a gene therapy clinical trial, said Dr. High. Gelsinger died while participating in a clinical trial conducted by a University of Pennsylvania lab not connected to CCMT or CHOP.

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Novel Financing For Gene Therapy Company

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Newswise The gene mutation that causes Huntingtons disease appears in every cell in the body, yet kills only two types of brain cells. Why? UCLA scientists used a unique approach to switch the gene off in individual brain regions and zero in on those that play a role in causing the disease in mice.

Published in the April 28 online edition of Nature Medicine, the research sheds light on where Huntingtons starts in the brain. It also suggests new targets and routes for therapeutic drugs to slow the devastating disease, which strikes an estimated 35,000 Americans.

From day one of conception, the mutant gene that causes Huntingtons appears everywhere in the body, including every cell in the brain, explained X. William Yang, professor of psychiatry and biobehavioral sciences at the Semel Institute for Neuroscience and Human Behavior at UCLA. Before we can develop effective strategies to treat the disorder, we need to first identify where it starts and how it ravages the brain.

Huntington's disease is passed from parent to child through a mutation in a gene called huntingtin. Scientists blame a genetic stutter -- a repetitive stretch of DNA at one end of the altered genefor the cell death and brain atrophy that progressively deprives patients of their ability to move, speak, eat and think clearly. No cure exists, and people with aggressive cases may die in as little as 10 years.

Huntingtons disease targets cells in two brain regions for destruction: the cortex and the striatum. Far more neurons die in the striatuma cerebral region named after its striped layers of gray and white matter. But its unclear whether cortical neurons play a role in the disease, including striatal neurons malfunction and death.

Yangs team used a unique approach to uncover where the mutant gene wreaks the most damage in the brain.

In 2008, Yang collaborated with co-first author Michelle Gray, a former UCLA postdoctoral researcher now at the University of Alabama, to engineer a mouse model for Huntingtons disease. The scientists inserted the entire human huntintin gene, including the stutter, into the mouse genome. As the animals brains atrophied, the mice developed motor and psychiatric-like problems similar to the human patients.

In the current study, Yang and Nan Wang, co-first author and UCLA postdoctoral researcher, took the model one step further. They integrated a genetic scissors that snipped off the stutter and shut down the defective genefirst in the cortical neurons, then the striatal neurons and finally in both sets of cells. In each case, they measured how the mutant gene influenced disease development in the cells and affected the animals brain atrophy, motor and psychiatric-like symptoms.

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Scientists Hunt Down Origin of Huntington's Disease in the Brain and Provide Insights to Help Deliver Therapy

PUBLIC RELEASE DATE:

28-Apr-2014

Contact: Sam Smith newsbureau@mayo.edu 507-284-5005 Mayo Clinic

ROCHESTER, Minn. April 23, 2014 Mayo Clinic announces the launch of CANCP, a new gene panel cancer test to help tailor chemotherapy to the individual patient based on the unique genomic signature of the patient's tumor. CANCP, an abbreviation for Solid Tumor Targeted Cancer Gene Panel by Next-Generation Sequencing, scans specific regions in 50 genes known to affect tumor growth and response to chemotherapy. The test is now available to Mayo Clinic patients and to providers worldwide through Mayo Medical Laboratories.

"Every patient's cancer is different, and oncology is moving away from treating cancer based on its location in the body in favor of selecting the best medication for the individual patient based on molecular changes in the tumor," says Axel Grothey, M.D., a Mayo Clinic oncologist who orders CANCP on selected tumors. "This test helps providers identify such molecular changes without infusing irrelevant details from genes that we know will not affect our choice of medications."

The test is a hotspot panel, which means it scans specific regions of individual genes rather than the entire gene in search of tumor mutations that influence response to chemotherapy. It is designed for testing of solid tumors and focuses on clinically actionable alterations.

"We worked closely with oncologists, pathologists and molecular geneticists to develop and implement a next-generation sequencing assay that will have actionable results for providers," says Benjamin Kipp, Ph.D., a Mayo Clinic molecular geneticist and CANCP's lead designer. "This test focuses on results that oncologists can use to help find the right drug the first time."

Testing is conducted in the CLIA-certified Next-Generation Sequencing Lab of the Mayo Clinic Department of Laboratory Medicine and Pathology (DLMP). This is the second next-generation sequencing panel test offered by DLMP and Mayo Medical Laboratories. The other is a 17-gene screening test for hereditary colorectal cancers. Both were developed in collaboration with the Mayo Clinic Center for Individualized Medicine.

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Mayo Clinic launches 50-gene cancer panel test