Daily Archives: April 21, 2017

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

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

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

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

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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