Category Archives: Gene Medicine

LOS ANGELES, April 26, 2017 /PRNewswire/ --Capricor Therapeutics, Inc. (CAPR), a clinical-stage biotechnology company developing first-in-class biological therapies for cardiac and other medical conditions, today announced that Linda Marbn, Ph.D., president and chief executive officer, is scheduled to present at the Alliance for Regenerative Medicine's 5th Annual Cell & Gene Therapy Investor Day on April 27, 2017 at The State Room in Boston, Massachusetts. The presentation will begin at approximately 9:40 a.m. eastern time and a live webcast of the event will be available at http://www.arminvestorday.com/webcast/.

About Capricor Therapeutics

Capricor Therapeutics, Inc. (CAPR) is a clinical-stage biotechnology company developing first-in-class biological therapies for cardiac and other medical conditions. Capricor's lead candidate, CAP-1002, is a cell-based candidate currently in clinical development for the treatment of Duchenne muscular dystrophy, myocardial infarction (heart attack), and heart failure. Capricor is exploring the potential of CAP-2003, a cell-free, exosome-based candidate, to treat a variety of disorders. For more information, visit http://www.capricor.com.

Cautionary Note Regarding Forward-Looking Statements

Statements in this press release regarding the efficacy, safety, and intended utilization of Capricor's product candidates; the initiation, conduct, size, timing and results of discovery efforts and clinical trials; the pace of enrollment of clinical trials; plans regarding regulatory filings, future research and clinical trials; plans regarding current and future collaborative activities and the ownership of commercial rights; scope, duration, validity and enforceability of intellectual property rights; future royalty streams, expectations with respect to the expected use of proceeds from the recently completed offerings and the anticipated effects of the offerings, and any other statements about Capricor's management team's future expectations, beliefs, goals, plans or prospects constitute forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Any statements that are not statements of historical fact (including statements containing the words "believes," "plans," "could," "anticipates," "expects," "estimates," "should," "target," "will," "would" and similar expressions) should also be considered to be forward-looking statements. There are a number of important factors that could cause actual results or events to differ materially from those indicated by such forward-looking statements. More information about these and other risks that may impact Capricor's business is set forth in Capricor's Annual Report on Form 10-K for the year ended December 31, 2016, as filed with the Securities and Exchange Commission on March 16, 2017, and in its Registration Statement on Form S-3, as filed with the Securities and Exchange Commission on September 28, 2015, together with prospectus supplements thereto. All forward-looking statements in this press release are based on information available to Capricor as of the date hereof, and Capricor assumes no obligation to update these forward-looking statements.

CAP-1002 is an Investigational New Drug and is not approved for any indications. Capricor's exosomes technology, including CAP-2003, has not yet been approved for clinical investigation.

For more information, please contact:

Corporate Capricor Therapeutics, Inc. AJ Bergmann, Vice President of Finance +1-310-358-3200 abergmann@capricor.com

Investor RelationsArgot Partners Kimberly Minarovich +1-212-600-1902 kimberly@argotpartners.com

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Capricor Therapeutics to Present at the Alliance for Regenerative Medicine's Cell & Gene Therapy Investor Day - Yahoo Finance

Burgers, fries, chocolate - we know these foods are bad for our health. So why are some of us incapable of cutting them from our diets? A new study suggests that our genes may be responsible.

Researchers from Spain have identified certain gene variants that influence a person's food preferences, such as a liking for chocolate and high-fat foods.

Study co-author Silvia Berciano, of the Universidad Autonoma de Madrid in Spain, and colleagues hope that their results will lead to personalized dietary advice that helps to prevent and treat obesity and other chronic conditions associated with poor eating habits.

The researchers recently presented their findings at Experimental Biology 2017, held in Chicago, IL.

The Dietary Guidelines for Americans recommend following a diet high in fruits, vegetables, and whole grains and low in added sugars, sodium, and saturated fats.

However, it seems that many of us are failing to adhere to these guidelines. A study conducted by the Centers for Disease Control and Prevention (CDC) last year, for example, found that more than 90 percent of adults in the United States eat more than the recommended sodium intake.

An earlier study from the CDC also revealed that people in the U.S. get around 13 percent of their total daily calories from added sugar, rather than the recommended maximum of 10 percent.

It goes without saying that following a healthful diet is easier for some people than others. Many of us are unable to resist a chocolate bar or takeout, despite being well aware that excessive consumption of these foods is bad for us.

Previous research has identified certain genes that are associated with behaviors related to anorexia and other eating disorders. For their study, Berciano and team set out to investigate whether genetics play a role in the food choices of healthy individuals.

The researchers reached their findings by analyzing data from the Genetics and Lipid Lowering Drugs and Diet Network study. The data included 818 adults of European ancestry, of whom 404 were men and 414 were women.

The team analyzed the genetic data of each participant, and subjects' dietary habits were determined using food frequency questionnaires.

The analysis revealed a number of genetic variations that were associated with certain food preferences.

For example, the team found that variants of the receptor gene for the "love hormone" oxytocin were associated with a higher chocolate intake and a larger waist circumference.

Higher salt intake was associated with CREB1 and GABRA2 gene variants, while variants of the SLC6A2 gene were linked to greater total fat intake.

The team notes that the identified gene variants have previously been associated with a number of behavioral and psychological traits, such as stress, addiction, impulsivity, and depression.

As such, the researchers believe that their study has uncovered a number of gene variants that affect our behavior in a way that influences our food choices.

"Most people have a hard time modifying their dietary habits, even if they know it is in their best interest. This is because our food preferences and ability to work toward goals or follow plans affect what we eat and our ability to stick with diet changes," says Berciano.

"Ours is the first study describing how brain genes affect food intake and dietary preferences in a group of healthy people."

The researchers hope that their findings will lead to more effective ways to reduce the risk of chronic disease developed as a result of poor dietary habits.

"The knowledge gained through our study will pave the way to better understanding of eating behavior and facilitate the design of personalized dietary advice that will be more amenable to the individual, resulting in better compliance and more successful outcomes."

Silvia Berciano

In future research, the team plans to assess whether the genetic variants related to food preferences are associated with greater risk of certain health conditions.

Learn how a certain protein may cause obesity by disrupting the metabolic functions of brown fat.

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Are you a chocaholic? Your genes could be to blame - Medical ... - Medical News Today

Certain variants of the BRCA1 and BRCA2 genes are well recognized to raise a womans risk of inherited breast cancer.A growing body of research finds that five lesser-known genes, including TP53 and PTEN, also raise this risk, according to a study published in the April 2017 issue of Value in Health, the journal of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR).

Researchers at Quest Diagnostics developed a decision-making model for hypothetical cohorts of 50-year-old and 40-year-old asymptomatic women with a family history of breast or ovarian cancer or other hereditary syndromes. The model compared two strategies for detecting pathogenic genetic variants and using the test result to select appropriate breast cancer risk reduction: the usual care strategy tests for variants in the BRCA1 and BRCA2 genes and the other strategy tests for variants in the BRCA1, BRCA2, TP53, PTEN, CDH1, STK11, and PALB2 genes (seven-gene testing). The risk-reduction procedures are those recommended by National Comprehensive Cancer Network guidelines, and the probabilities of breast cancer and death used in the model are based on the peer reviewed literature.

Investigators found thatbased on the computer modeling, genetic testing for these five genes and BRCA1 and BRCA2 could yield better health outcomes and good economic value than would testing of the two BRCA genes alone.

Li

Genetic testing of five additional genes known to confer increased risk of hereditary breast cancer along with BRCA1/2 testing provides health and economic benefits beyond BRCA1/2testing alone, says lead study author Yonghong Li, PhD, principal scientist, Quest Diagnostics.

Specifically, when factoring in risk-reducing surgery, the impact of enhanced surveillance, or both, hypothetical cohorts of 40- and 50-year-old women undergoing genetic testing with the seven-gene panel would result in an incremental cost-effectiveness ratio (ICER) of $23,734 and $42,067 per life-year gainedcompared withBRCA1/2testing alone, according to the study. ICER is a measure ofthe cost-effectivenessof a healthcare intervention. This study showed that the multigene test can increase life expectancy, and the ICER shows how much it will cost payers for each additional year of life gained by using the multigene test.

By comparison, the estimated ICER for annual MRI for high-risk women is about $179,600. The findings of the Queststudy also suggest that the seven-gene test strategy would be cost-effective, according to World Health Organization Thresholds for Cost-Effectiveness of Interventions.

Managed care executives want to promote better care and outcomes but they also need to control costs, says Li. They want to know that a new medical service has health and economic value before they will reimburse it. One of their most challenging issues is determining whether new genetic tests provide this value.

According to the editors of Value in Health in a commentary in support of the study, clinical practice guidelines are often proposed without adequate consideration of cost-effectiveness considerations the test and risk reduction strategy (in the study) could represent a cost-effective option for improving life expectancy in this population (women with inherited breast cancer risk).

One of the most controversial topics in genetics today is the process of determining the criteria by which genes are thought to meet a baseline for economic value, according to Li.

The [study] suggests that genetic testing beyond BRCA1 and BRCA2 could potentially generate favorable health and cost outcomes, Li says. While the prospect of over testing is always a concern, the present study is a reminder that under testing can also raise risks for patients and payers.

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Researchers identify more effective, cost-efficient test for breast cancer risk - ModernMedicine

Outside contributors' opinions and analysis of the most important issues in politics, science, and culture.

Labs across our country are a source of American optimism advancing knowledge, technologies, and cures. And yet, as citizens in 500 cities worldwide prepare to march this weekend in support of science, many American scientific practitioners are afraid. They worry that American science as we know it would be hobbled if President Trumps proposed 18 percent cut to the National Institutes of Health, Americas premier medical research funder, becomes reality.

We hope Congress will hear historys call and re-assert American leadership in advancing humanitys scientific knowledge.

Call us nave, but we believe as an immunologist and biochemist attempting to perfect and deploy gene-editing advances to cure disease that Democrats and Republicans alike can be united by a shared drive for scientific exploration and life-saving discoveries.

Science is not the property of any political party or region of the country. In red states and blues states, daughters and sons ask their first scientific questions when they come to us and wonder how the human body grows, how genes are inherited, and how a medicine works. Over the past century, American political leaders have encouraged young people to ask these fundamental questions, invested in their training to become scientists, and given them tools to translate questions into innovation.

The rewards of breakthroughs are felt most acutely when our families experience illness. Many of us know the pain of a loved one discovering a lump that turns out to be cancer or showing signs of neurological decline. In these moments, whatever our politics, we all hope to reach for the most powerful medicines, which continue to result from the relentless pursuit of scientific knowledge.

As we write, biomedical progress is accelerating, changing how we understand and fight disease. One example is CRISPR, a tool that can edit specific sequences in human DNA, which one of us helped invent and the other uses in research to understand and control the human immune system. Targeted at the building blocks of life, CRISPR could induce immune cells to fight disease or neutralize predisposition to one.

The combination of CRISPR and new therapies has raised hopes for a new generation of powerful cancer treatments. Across the US, our colleagues are teaming up and racing to apply similar approaches to dementia, heart disease, and countless other conditions.

A growing number of Americans have heard of CRISPR and its medical potential. Far fewer realize that the transformative applications of CRISPR genome editing would never have occurred without robust funding for basic scientific research. Inquiry into unusual genes in unglamorous bacteria before we even knew the gene-altering power they contained, laid the foundation for CRISPR technology. Now that same technology is driving a revolution in biomedicine and rapidly advancing towards clinical trials.

We certainly have not charted the breadth of microorganisms that will inspire the invention of future drugs, nor fathomed the full complexity of the inner workings of human cells. Thats the work of basic scientific research. The next revolution in biology is currently an idea in a scientists head, or being hashed out in a late night lab conversation among graduate students, or sitting in a grant application to the NIH asking for a chance.

Our research represents just a sliver of the vital projects that more than 300,000 researchers are undertaking in 50 states with NIH support. Unfortunately, the presidents proposed budget threatens that research. Among the deep cuts to science support he seeks is a nearly $6 billion reduction for NIH, representing nearly a fifth of the agencys funding. (For context, thats more than its entire current cancer budget.) The proposal has prompted justifiable concern among scientists and patient advocates. Funding cuts would deter tomorrows scientists from the field, or at least from pursuing careers in the US.

Curtailing the NIH budget, a significant chunk of Americas biomedical research funding, would cripple our capacity to lead on pressing health challenges. The vast majority of NIH funds go to funding scientific research and training, both within the agency and externally. For decades, America has been at the forefront of scientific innovation. Slashing funding would destroy long-term projects and threaten American primacy in medical research. More importantly, underfunding NIH will hamstring efforts to fight disease.

Some might argue that private industry will fill the void, given the economic benefits of scientific breakthroughs,. But the truth, surprising to many, is that while private investment can indeed lead to the discovery of profitable new drugs and therapies, its focus on the bottom line tends to short-change basic as opposed to applied research. In weighing a projects anticipated earnings and costs, businesses seek a probable path to profit.

Transformative science requires a different mold than the one found in industry. CRISPR grew not out of a race to develop disease treatments, but out of basic scientific research into bacteria. The boldest innovations stem from unlikely collaborations or quixotic investigations in other words, exploration driven by discovery rather than profit. Occasionally, these projects do become profitable, but only through a scientists persistent drive to show that an idea, a hope, a hunch, is not so crazy after all. While stockholders may not want a corporation to make bets that are unlikely to have an immediate payoff, as citizens we must demand our government does so.

And thats precisely why the National Institutes of Health exists: It ensures that, though we may not know what the next CRISPR will be, there are bright and dedicated American scientists pursuing many roads of inquiry, even if the path to profit isnt immediately clear.

As Congress considers the presidents budget, we have a simple request: Please give Americas scientists the tools we need to succeed.

Supporting NIH will position American scientists to continue the open-ended explorations at which they excel. Government funding is critical to encourage our scientists to pursue not just the challenges that are relatively easy, or obviously profitable, but the ones that are fiendishly hard yet crucial.

NIH funding is a down payment on discovery, the seed money to fund a critical step toward ending Alzheimers or curing cancer. What could be a bigger win for America than that?

Jennifer Doudna is a professor of chemistry, and molecular and cell biology, at the University of California, Berkeley. Alex Marson is an assistant professor of microbiology, immunology, and medicine at UC San Francisco.

The Big Idea is Voxs home for smart discussion of the most important issues and ideas in politics, science, and culture typically by outside contributors. If you have an idea for a piece, pitch us at thebigidea@vox.com

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Federal funding for basic research led to the gene-editing revolution. Don't cut it. - Vox

April 21, 2017 by Jane Butler Cancer Histopathologic image of colonic carcinoid. Credit: Wikipedia/CC BY-SA 3.0

Researchers from RCSI (Royal College of Surgeons in Ireland) and the University of Nice, France, have discovered the function of a gene called KCNQ1 that is directly related to the survival of colon cancer patients. The gene produces pore-forming proteins in cell membranes, known as ion channels. The finding is an important breakthrough towards the development of more effective therapies for colon cancer and new diagnostics that will provide a more accurate prognosis for colon cancer patients. The research is published this week in the prestigious journal Proceedings of the National Academy of Sciences (PNAS).

This is the first study of its kind to work out the molecular mechanisms of how the KCNQ1 ion channel gene suppresses the growth and spread of colon cancer tumours.

Worldwide, there are 774,000 deaths from colorectal cancer each year and it is the third leading cause of death from cancer globally. In Ireland, almost 2,500 Irish people are diagnosed with bowel cancer annually and it is the second most common cause of cancer death.

The research team, led by Professor Brian Harvey, Department of Molecular Medicine, RCSI, have identified the molecular mechanisms by which the KCNQ1 gene suppresses the growth and spread of colon cancer cells. The KCNQ1 gene works by producing an ion channel protein which traps a tumour promoting protein called beta-catenin in the cell membranes before it can enter the nucleus of the cell causing more cancer cells to grow.

The study looked at the relationship between the expression of the KCNQ1 gene and patient survival from more than 300 colon cancer patients. Patients who had high expression of the KCNQ1 gene were found to have a longer survival and less chance of relapse.

Commenting on the significance of the discovery Professor Harvey said: "This study has demonstrated the ability of an ion channel gene to block the growth of colon cancer cells. This is an exciting discovery as it opens up the possibility of a new kind of therapy that will target the KCNQ1 gene with drugs and also as a biomarker to improve diagnostics of colon cancer onset and development in patients. This information will help clinicians to identify the most effective treatment for the individual patient."

"In the future, when we understand more about the KCNQ1 gene through further research, it will open up the possibility of developing new drug treatments that will be able harness the suppressive properties of the gene to target the colon specifically, without exposing other tissues in the body to unnecessary chemotherapy. The development of more targeted treatments for colon cancer is vital to improve the prognosis and quality of life for colon cancer patients."

Explore further: Among colon cancer patients, smokers have worse outcomes than non-smokers

More information: Raphael Rapetti-Mauss et al. Bidirectional KCNQ1:-catenin interaction drives colorectal cancer cell differentiation, Proceedings of the National Academy of Sciences (2017). DOI: 10.1073/pnas.1702913114

In an analysis of more than 18,000 patients treated for colon cancer, current smokers were 14 percent more likely to die from their colon cancer within five years than patients who had never smoked.

Researchers from Boston University School of Medicine (BUSM) have discovered a possible strategy to treat colon cancers that are caused by the mutant KRAS gene, which is responsible for approximately half of all colon cancer ...

A small molecule called TASIN-1 can selectively kill cells with a mutation that is considered to be a precursor to colon cancer, while sparing related normal cells, UT Southwestern Medical Center cancer biologists have demonstrated. ...

Many types of cancer are caused by gene mutations in the signalling pathways that control cell growth, such as the hedgehog signalling pathway. A new study from the Karolinska Institutet, published in the journal Nature Communications, ...

Researchers from Oregon Health and Science University and Oregon State University have found that aspirin may slow the spread of some types of colon and pancreatic cancer cells. The paper is published in the American Journal ...

Researchers and physicians have grappled with the role of "adjuvant," or post-surgery, chemotherapy for patients with early-stage colon cancer, even for cancers considered high risk. Now researchers from the University of ...

Researchers from RCSI (Royal College of Surgeons in Ireland) and the University of Nice, France, have discovered the function of a gene called KCNQ1 that is directly related to the survival of colon cancer patients. The ...

A new laboratory technique developed by researchers at Baylor College of Medicine and other institutions can rapidly test the effectiveness of treatments for life-threatening breast cancer metastases in bone. The study appears ...

A drug created from a malaria protein stopped tumour growth of chemotherapy-resistant bladder cancer, offering hope for cancer patients not responding to standard treatments.

Cutting out certain amino acidsthe building blocks of proteinsfrom the diet of mice slows tumour growth and prolongs survival, according to new research published in Nature.

"Inhale deeply ... and exhale." This is what a test for lung cancer could be like in future. Scientists at the Max Planck Institute for Heart and Lung Research in Bad Nauheim have developed a method that can detect the disease ...

Identification of a specific genetic mutation in patients with non-small-cell lung cancer (NSCLC) helps clinicians select the best treatment option. Potential NSCLC patients usually undergo invasive tissue biopsy, which may ...

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Scientists discover gene that blocks spread of colon cancer - Medical Xpress

SYNPROMICS, the Scottish biotech company, has hailed a 5.2 million funding injection unveiled yesterday as a major vote of confidence in the prospects of its gene-based technology, which can be applied to a range of medical treatments and therapies.

Calculus Capital, the London-based private equity firm, has backed Edinburgh-based Synpromics for a second time, leading the new round with a 3.5m investment alongside backing from Scottish Enterprise and a group of private investors.

Synpromics chief executive David Venables said the latest investment underlines the strides the firm has taken since the initial made by Calculus and others 18 months ago, during which time its team has grown to 24 from nine and the firm has struck a deal with range of large and small companies.

Mr Venables said the team have also made significant progress with its technology, which aims to treat genetic disorders and diseases with gene-based therapies. He said: We see this now as a great opportunity to raise more money and go out and accelerate our growth, and push on to the next phase.

Synpromics has developed technology that allows it to create synthetic gene promoters, which are described as vital components in the research and development of gene-based medical treatments and therapies. Its main markets are in gene medicine, taking in gene therapy, gene editing and cell therapy, within which genetic diseases are treated through genetic means through DNA, rather than small molecule drugs. The technology works by allowing precise control of gene function.

Synpromics is also involved in a number of research collaborations, including a project to develop biosynthetic gene promoters with US life sciences company GE Healthcare.

Mr Venables declared the latest investment it has received will allow it to fund further research into its platform, allowing it to become more specialised in its capability.

He said: We are investing a lot in that platform, and demonstrating it. We want to be able to validate that technology in a number of different therapeutic settings. We want to take ownership for doing more of that. At the moment we are heavily reliant on our partners to do a lot of that validation and exemplification of the technology.

What we want to do is bring a lot more of that in-house, because then we can advance the technology further ourselves, generate more value, and get more and better deals done.

Mr Venables, who envisages lifting the research team to up to 35 in the next 18 months, was unable to disclose the stake Calculus Capital now holds in the business. The firm has provided the backing through its Enterprise Investment Scheme funds, under which investors typically exit after five to seven years, and its venture capital trust.

Mr Venables raised the prospect of listing the business on the Alternative Investment Market and on the Nasdaq index in the US, adding that it may ultimately find itself an acquisition target.

John Glencross, chief executive of Calculus Capital, said: Since our initial investment in 2015, its performance as a business has been outstanding, with many positive developments, both commercially and in its research, which are putting it on the radar of the major players in life sciences both in Europe and the US.

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Funding boost for pioneering biotech firm Synpromics - Herald Scotland

Synpromics Ltd, the leading synthetic promoter and gene control company, is pleased to announce that it has completed a financing round of 5.2M. Participants included existing investors Calculus Capital, the Scottish Investment Bank, the investment arm of Scottish Enterprise and private shareholders.

Synpromics has grown rapidly over the past two years as it expanded its portfolio of international customers. These include leading gene therapy companies and multinational technology corporations, most recently GE Healthcare.

The majority of the new investment will be used to further develop and exemplify Synpromics proprietary PromPT synthetic promoter design platform. PromPT enables the design of unique synthetic promoters which give precise control of gene function in many areas of gene medicine including gene therapy, cell therapy and gene editing. The Company is also preparing to move into a larger, new purpose built, facility.

David Venables, CEO of Synpromics, commented Since our last fundraising round 18 months ago the business has grown rapidly as weve signed more commercial partnerships with companies in the US and Europe. We see an exciting opportunity to fund further rapid expansion of our business, supported by our innovative science and novel capabilities.

Alexandra Lindsay, Investment Director at Calculus Capital, added We have been delighted with the progress which Synpromics has made since we made our first investment some 18 months ago. They have a very strong team and the technology has been clearly validated through partnerships with some of the worlds leading gene medicine companies.

Kerry Sharp, Head of the Scottish Investment Bank, said Having supported Synpromics from an early stage it is great to see the progress that has been achieved to develop and grow the business in the highly dynamic synthetic biology industry. We look forward to continuing to work with the company, both from an investment perspective and through our account management support, to deliver its long term growth ambition.

This article has been republished frommaterialsprovided bySynpromics Ltd. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Synpromics Raise 5.2m in its Latest Fundraising Round - Technology Networks

New York Times

When to Tell Daughters About a Genetic Breast Cancer Risk New York Times In genetic medicine, minors typically are not tested for BRCA mutations, which increase the risk of adult-onset breast and ovarian cancers. The worry is that children often lack the maturity to fully understand the implications of a genetic risk, and ...

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When to Tell Daughters About a Genetic Breast Cancer Risk - New York Times

DNA double helix Laguna Design / Getty Images

UniQure went into the record books when its gene therapy Glybera was approved by European regulators for an ultra-rare blood disorder in 2012, and the drug was finally launched two years later with a price tag of around $1 million per treatment.

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But the number of patients eligible for treatment was always tiny and, with no sign of demand improving, the company said it had decided not to renew Glybera's five-year European marketing authorization, which is due to expire on Oct. 25.

"Glybera's usage has been extremely limited and we do not envision patient demand increasing materially in the years ahead," said UniQure Chief Executive Matthew Kapusta.

The group, which had already decided not to pursue a U.S. approval for the drug, said the decision was not related to any safety concerns.

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Glybera is given as a series of injections to fight lipoprotein lipase deficiency (LPLD), a disabling condition that clogs the blood with fat. The drug is sold in Europe on UniQure's behalf by Italian drugmaker Chiesi Farmaceutici.

The commercial flop is a reminder of the economic challenges facing the emerging field of gene therapy, which seeks to cure rare genetic diseases by offering a one-time fix of a faulty DNA but inevitably comes at a very high price.

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However, the setback is unlikely to derail rising investor interest in gene therapy, which has been triggered recently by a number of advances in treating a range of genetic diseases, most of which affect far more patients than LPLD.

Industry analysts said the decision to pull the plug on Glybera would make little difference to UniQure's financial outlook. In fact, the move will save some $2 million in annual costs and help UniQure focus on other gene medicines.

Scientists have been working on gene therapies for more than a quarter of a century but it is only recently that the approach has started to become a commercial reality, although the U.S. Food and Drug Administration has yet to approve any.

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Firm Pulls World's First Gene Therapy Treatment: No One Wants It - NBCNews.com

April 20, 2017 Back row, l. to r.: Feng Zhao, Adam Richman, Junyi Zhu and Yiming Ma. Front row, l. to r.: Yulong Fu; Zhe Han, Ph.D., principal investigator and associate professor in the Center for Cancer & Immunology Research at Children's National Health System, and senior study author; Simone Kirkland; and Wen Huang. Credit: Children's National Health System

An off-the-shelf dietary supplement available for pennies per dose demonstrated the ability to reverse cellular damage linked to specific genetic mutations in transgenic fruit flies, an experimental model of genetic mutation-induced renal cell injury that features striking similarities to humans, a Children's National Health System research team reports April 20 in Journal of the American Society of Nephrology.

"Transgenic Drosophila that carry mutations in this critical pathway are a clinically relevant model to shed light on the genetic mutations that underlie severe kidney disease in humans, and they could be instrumental for testing novel therapies for rare diseases, such as focal segmental glomerulosclerosis (FSGS), that currently lack treatment options," says Zhe Han, Ph.D., principal investigator and associate professor in the Center for Cancer & Immunology Research at Children's National and senior study author.

Nephrotic syndrome (NS) is a cluster of symptoms that signal kidney damage, including excess protein in the urine, low protein levels in blood, swelling and elevated cholesterol. The version of NS that is resistant to steroids is a major cause of end stage renal disease. Of more than 40 genes that cause genetic kidney disease, the research team concentrated on mutations in genes involved in the biosynthesis of Coenzyme Q10 (CoQ10), an important antioxidant that protects the cell against damage from reactive oxygen.

"This represents a benchmark for precision medicine," Han adds. "Our gene-replacement approach silenced the fly homolog in the tissue of interest - here, the kidney cells - and provided a human gene to supply the silenced function. When we use a human gene carrying a mutation from a patient for this assay, we can discover precisely how a specific mutation - in many cases only a single amino acid change - might lead to severe disease. We can then use this personalized fly model, carrying a patient-derived mutation, to perform drug testing and screening to find and test potential treatments. This is how I envision using the fruit fly to facilitate precision medicine."

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Drosophila pericardial nephrocytes perform renal cell functions including filtering of hemolymph (the fly's version of blood), recycling of low molecular weight proteins and sequestration of filtered toxins. Nephrocytes closely resemble, in structure and function, the podocytes of the human kidney. The research team tailor-made a Drosophila model to perform the first systematic in vivo study to assess the roles of CoQ10 pathway genes in renal cell health and kidney function.

One by one, they silenced the function of all CoQ genes in nephrocytes. As any individual gene's function was silenced, fruit flies died prematurely. But silencing three specific genes in the pathway associated with NS in humans - Coq2, Coq6 and Coq8 - resulted in abnormal localization of slit diaphragm structures, the most important of the kidney's three filtration layers; collapse of membrane channel networks surrounding the cell; and increased numbers of abnormal mitochondria with deformed inner membrane structure.

The flies also experienced a nearly three-fold increase in levels of reactive oxygen, which the study authors say is a sufficient degree of oxidative stress to cause cellular injury and to impair function - especially to the mitochondrial inner membrane. Cells rely on properly functioning mitochondria, the cell's powerhouse, to convert energy from food into a useful form. Impaired mitochondrial structure is linked to pathogenic kidney disease.

The research team was able to "rescue" phenotypes caused by silencing the fly CoQ2 gene by providing nephrocytes with a normal human CoQ2 gene, as well as by providing flies with Q10, a readily available dietary supplement. Conversely, a mutant human CoQ2 gene from an patient with FSGS failed to rescue, providing evidence in support of that particular CoQ2 gene mutation causing the FSGS. The finding also indicated that the patient could benefit from Q10 supplementation.

Explore further: Drosophila effectively models human genes responsible for genetic kidney diseases

More information: A Personalized Model of COQ2 Nephropathy Rescued by the Wild-Type COQ2 Allele or Dietary Coenzyme Q10 Supplementation, Journal of the American Society of Nephrology (2017). DOI: 10.1681/ASN.2016060626 , http://jasn.asnjournals.org/content/early/2017/04/19/ASN.2016060626.abstract

The majority of genes associated with nephrotic syndrome (NS) in humans also play pivotal roles in Drosophila renal function, a conservation of function across species that validates transgenic flies as ideal pre-clinical ...

A Children's National Health System research team has uncovered a novel process by which the gene APOL1 contributes to renal disease, according to a paper published November 18 in the Journal of the American Society of Nephrology. ...

African Americans have a heightened risk of developing chronic and end-stage kidney disease. This association has been attributed to two common genetic variants - named G1 and G2in APOL1, a gene that codes for a human-specific ...

Specific genetic errors that trigger congenital heart disease (CHD) in humans can be reproduced reliably in Drosophila melanogaster - the common fruit fly - an initial step toward personalized therapies for patients in the ...

An international team of scientists has discovered that the gene, OGDHL, a key protein required for normal function of the mitochondriathe energy-producing factory of the celland its chaperone, nardilysin (NRD1) are ...

A genetic 'switch' has been discovered by MRC researchers at the University of Leicester which could help to prevent or delay the symptoms of Parkinson's disease.

(Medical Xpress)An international team of researchers has developed a way to use RNA sequencing to help in diagnosing patients with rare genetic muscle conditions. In their paper published in the journal Science Translational ...

Research published this week in Scientific Reports uses computer image and statistical shape analysis to shed light on which parts of the face are most likely to be inherited.

Salk scientists and collaborators have shed light on a long-standing question about what leads to variation in stem cells by comparing induced pluripotent stem cells (iPSCs) derived from identical twins. Even iPSCs made from ...

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...

After nearly 40 years of searching, Johns Hopkins researchers report they have identified a part of the human genome that appears to block an RNA responsible for keeping only a single X chromosome active when new female embryos ...

It's not so hard anymore to find genetic variations in patients, said Brown University genomics expert William Fairbrother, but it remains difficult to understand whether and how those mutations undermine health.

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Supplement can lessen kidney damage linked to genetic mutations in transgenic fruit flies - Medical Xpress