Category Archives: Gene Medicine

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."

The video will load shortly

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.

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Go here to read the rest:
Supplement can lessen kidney damage linked to genetic mutations in transgenic fruit flies - Medical Xpress

EDINBURGH, Scotland--(BUSINESS WIRE)--

Synpromics Ltd, the leading synthetic promoter and gene control company, is pleased to announcethat 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.

-Ends-

Notes to Editors

About Synpromics

Synpromics is a private company focused on commercialising its proprietary technology in the emerging field of synthetic biology by developing customised synthetic promoters. The company has partnership deals with a number of gene therapy companies including AGTC, Adverum, and uniQure, and bioprocessing companies such as GE Healthcare and Sartorius-Stedim Celca.

Synpromics technology gives biological researchers, developers and manufacturers unprecedented control of gene expression through the ability to create a comprehensive portfolio of man-made DNA regulatory sequences.

Synthetic promoters are DNA sequences that do not exist in nature and are designed to regulate the activity of genes, controlling a genes ability to produce its own uniquely encoded protein. Currently, the biotech industry largely relies on naturally occurring promoters to drive protein production. However, natural promoters have evolved for biological functions within the context of the organism in question, and as such they were not purpose-designed for industrial or therapeutic applications. The technology developed by Synpromics allows for the design of synthetic promoters that are optimally tailored to drive gene expression at the desired level and specificity. The technology platform facilitates the creation of a large collection of distinct and relevant synthetic promoters for a diverse array of applications

For more information see http://www.synpromics.com

About Calculus Capital

Calculus Capital is a specialist in creating and managing private equity funds for individuals. A pioneer in the Enterprise Investment Scheme (EIS) space, Calculus launched the UKs first HMRC-approved EIS fund in 1999 and has gone on to launch 16 further funds and four VCT offers. Calculus seeks capital appreciation from dynamic, established, private UK companies across a multitude of sectors. Calculus prefers to invest 2m-5m per company.As at January 2017 it had over 130m of funds under management.

Calculus Capitals experienced investment team, diligent investment process and hands on approach have resulted in an impressive track record of investment success. Calculus has won multiple awards including Best EIS Fund Manager at the Growth Investor Awards 2016 and the EIS Associations Fund Manager of the Year Award in 2016, 2015, 2014, 2011 and 2009.

Read More

Read the original post:
Synpromics Raises 5.2M of New Investment - Yahoo Finance

April 19, 2017 by Elana Fertig, The Conversation A tumor under the microscope. Credit: cnicholsonpath/flickr, CC BY

Two years ago, former President Barack Obama announced the Precision Medicine initiative in his State of the Union Address. The initiative aspired to a "new era of medicine" where disease treatments could be specifically tailored to each patient's genetic code.

This resonated soundly in cancer medicine. Patients can already manage their cancer with therapies that target the specific genes that are altered in their particular tumor. For example, women with a type of breast cancer caused by the amplification of gene HER2 are often treated with a therapeutic called herceptin. Because these targeted therapeutics are specific to cancer cells, they tend to have fewer side effects than traditional cancer treatments with chemotherapy or radiation.

However, such treatments are not available for most cancer patients. In many cancers, the specific genetic alterations that are responsible for a cancer remain unknown. To create individualized cancer treatments, we must know more about the functional genetic alterations.

With data on cancer genetics growing rapidly, mathematics and statistics can now help unlock the hidden patterns in this data to find the genes that are responsible for an individual's cancer. With this knowledge, physicians can select appropriate treatments that block the action of these genes to personalize therapies for individual patients. My research aims to improve precision medicine in cancer by building on the same methods that have been used to find patterns in Netflix movie ratings.

Sifting through the data

Today, there is unprecedented public access to cancer genetics data. These data come from generous patients who donate their tumor samples for research. Scientists then apply sequencing technologies to measure the mutations and activity in each of the 20,000 genes in the human genome.

All these data are a direct result of the Human Genome Project in 2003. That project determined the sequence for all the genes that make up healthy human DNA. Since the completion of that project, the cost of sequencing the human genome has more than halved every year, surpassing the growth of computing power described in Moore's Law. This cost reduction enables researches to collect unprecedented genetics data from cancer patients.

Most scientific studies on cancer genetics performed worldwide release their data to a centralized, public database provided by the U.S. National Institutes of Health (NIH) National Library of Medicine. The NIH National Cancer Institute and National Human Genome Research Institute have also freely released genetic data from over 11,000 tumors in 33 cancer types through a project called The Cancer Genome Atlas.

Every biological function from extracting energy from food to healing a wound results from activity in different combinations of genes. Cancers hijack the genes that enable people to grow to adulthood and that protect the body from the immune system. Researchers dub these the "hallmarks of cancer." This so-called gene dysregulation enables a tumor to grow uncontrollably and form metastases in distant organs from the original tumor site.

Researchers are actively using these public data to find the set of gene alterations that are responsible for each tumor type. But this problem is not as simple is identifying a single dysregulated gene in each tumor. Hundreds, if not thousands, of the 20,000 genes in the human genome are dysregulated in cancer. The group of dysregulated genes varies in each patient's tumor, with smaller sets of commonly reused genes enabling each cancer hallmark.

Precision medicine relies on finding the smaller groups of dysregulated genes that are responsible for biological function in each patient's tumor. But, genes may have multiple biological functions in different contexts. Therefore, researchers must uncover a set of "overlapping" genes that have common functions in a set of cancer patients.

Linking gene status to function requires complex mathematicsand immense computing power. This knowledge is essential to predict of outcome to therapies that would block the function of these genes. So, how can we uncover those overlapping features to predict individual outcomes for patients?

What Netflix can teach us

Fortunately for us, this problem has already been solved in computer science. The answer is a class of techniques called "matrix factorization" and you've likely already interacted with these techniques in your everyday life.

In 2009, Netflix held a challenge to personalize movie ratings for each Netflix user. On Netflix, each user has a distinct set of ratings of different movies. While two users may have similar tastes in movies, they may vary wildly in specific genres. Therefore, you cannot rely on comparing ratings from similar users.

Instead, a matrix factorization algorithm finds movies with similar ratings among a smaller group of users. The group of users will vary for each movie. The computer associates each user with a group of movies to a different extent, based upon their individual tastes. The relationships among users are referred to as "patterns." These patterns are learned from the data, and may find common rankings unforeseen by movie genre alone for example, users may share a preference for a particular director or actor.

The same process can work in cancer. In this case, the measurements of gene dysregulation are analogous to movie ratings, movie genres to biological function and users to patients' tumors. The computer searches across patient tumors to find patterns in gene dysregulation that cause the malignant biological function in each tumor.

From movies to tumors

The analogy between movie ratings and cancer genetics breaks down in the details. Unless they are minors, Netflix users are not constrained in the movies they watch. But, our bodies instead prefer to minimize the number of genes used for any single function. There are also substantial redundancies between genes. To protect a cell, one gene may easily substitute for another to serve a common function. Gene functions in cancer are even more complex. Tumors are also highly complex and rapidly evolving, depending upon random interactions between the cancer cells and the adjacent healthy organ.

To account for these complexities, we have developed a matrix factorization approach called Coordinated Gene Activity in Pattern Sets or CoGAPS for short. Our algorithm accounts for biology's minimalism by incorporating as few genes as possible into the patterns for each tumor.

Different genes can also substitute for one another, each serving a similar function in a different context. To account for this, CoGAPS simultaneously estimates a statistic for the so-called "patterns" of gene function. This allows us to compute the probability of each gene being used in each biological function in a tumor.

For example, many patients take a targeted therapeutic called cetuximab to prolong survival in colorectal, pancreatic, lung and oral cancers. Our recent work found that these patterns can distinguish gene function in cancer cells that respond to the targeted therapeutic agent cetuximab from those that do not.

The future

Unfortunately, cancer therapies that target genes usually cannot cure a patient's disease. They can only delay progression for a few years. Most patients then relapse, with tumors that are no longer responsive to the treatment.

Our own recent work found that the patterns that distinguish gene function in cells that are responsive to cetuximab include the very genes that give rise to resistance. Emerging immunotherapies are promising and appear to cure some cancers. Yet, far too often, patients with these treatments also relapse. New data that track the cancer genetics after treatment is essential to determine why patients no longer respond.

Along with these data, cancer biology also requires a new generation of scientists who can bridge mathematics and statistics to determine the genetic changes occurring over time in drug resistance. In other fields of mathematics, computer programs are able to forecast long-term outcomes. These models are used commonly in weather prediction and investment strategies.

In these fields and my own previous research, we have found that updates to the models from large datasets such as satellite data in the case of weather improve long-term forecasts. We have all seen the effect of these updates, with weather predictions improving the closer that we are to a storm.

Just as tools from computer science used can be adapted to both movie recommendations and cancer, the future generation of computational scientists will adopt prediction tools from an array of fields for precision medicine. Ultimately, with these computational tools, we hope to predict tumors' response to therapy as commonly as we predict the weather, and perhaps more reliably.

Explore further: Study finds recurrent changes in DNA activate genes, promote tumor growth

This article was originally published on The Conversation. Read the original article.

Genetic mutations can increase a person's cancer risk, but other gene "enhancer" elements may also be responsible for disease progression, according to new research out of Case Western Reserve University School of Medicine. ...

A new method has been found for identifying therapeutic targets in cancers lacking specific key tumor suppressor genes. The process, which located a genetic site for the most common form of prostate cancer, has potential ...

A Yale-led study describes how a known cancer gene, EGFR, silences genes that typically suppress tumors. The finding, published in Cell Reports, may lead to the development of more effective, individualized treatment for ...

Oxygen deprivation, or hypoxia, has been identified by A*STAR researchers as a key factor in switching the function of major cancer genes from tumor-promoting to tumor-suppressing in a breast cancer subtype, suggesting the ...

Researchers from the Genes and Cancer research group at the Bellvitge Biomedical Research Institute (IDIBELL) have identified inactivating mutations in a number of genes that code for HLA-I histocompatibility complex proteins, ...

Personalized therapies can potentially improve the outcomes of patients with lung cancer, but how to best design such an approach is not always clear. A team of scientists from Baylor College of Medicine and the University ...

"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 ...

Scientists have discovered a brand new way of attacking breast cancer that could lead to a new generation of drugs.

Japan has become the first country to approve a lymphoma drug developed through research at Albert Einstein College of Medicine. This also marks the first time that an Einstein-licensed drug has been approved for patient ...

In a newly published study, researchers at Dartmouth's Norris Cotton Cancer Center find that unique immune cells, called resident memory T cells, do an outstanding job of preventing melanoma. The work began with the question ...

A phase one study of 11 patients with glioblastoma who received injections of an investigational vaccine therapy and an approved chemotherapy showed the combination to be well tolerated while also resulting in unexpectedly ...

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Read more from the original source:
What Netflix can teach us about treating cancer - Medical Xpress

ALISO VIEJO, Calif.--(BUSINESS WIRE)--

Ambry Genetics Corporation (Ambry) is calling on psychiatrists, psychologists and behavioral specialists to encourage their patients with autism, along with their family members, to sign up for a new study conducted through Ambrys data sharing program, AmbryShare. With this program, Ambry is taking a step towards discovering possible associations between genes and autism, so clinicians can provide their patients with targeted treatments and therapies much earlier in life.

Whats unique about AmbryShares approach is that we collect genetic information from clinics and families from all over the world to answer questions that cant be answered with just a handful of patients, said Brigette Tippin Davis, PhD, Ambrys Director of Emerging Genetic Medicine. The great thing about Ambry partnerships is that we are building connections between research institutions and empowering them to develop new approaches to treating patients with autism based on genetic profiles.

So far, dozens of behavioral clinics and other medical offices have contributed to AmbryShare studies by encouraging participation from their patients. Ambry strives to enroll more than 10,000 patients from clinics nationally and internationally.

Genetic testing would allow us to personalize treatment from a genetic profile and optimize it together with our rich behavioral data, said Dennis Dixon, PhD, Chief Strategy Officer at Center for Autism and Related Disorders (CARD). I really value working with Ambry, knowing this data will have an impact on treatment for our patients and then will still be available for other researchers to access to answer additional research questions. As we each put more samples in, it increases the overall likelihood that were going to find something that really makes a difference.

One in 64 children in the United States is diagnosed with an autism spectrum disorder (ASD), which can impact social interaction, communication and behavior. Genetic testing can help identify an underlying cause in up to 40% of autism spectrum disorders. Some genetic causes include chromosome microdeletions/microduplications, fragile X syndrome, Angelman syndrome, and tuberous sclerosis. New gene discovery can allow clinicians to determine their patients course of treatment and the gene-disease relationship associated with their individual case of autism. Through the recruitment of a massive cohort, more data will be collected to discover more genes, develop medical management plans and enact preventive strategies.

The scientists need the data to be out there, said Charles Dunlop, Ambrys President and Chairman. We need to know what these diseases are actually doing, what causes them, what gene mutations are associated with them so we can move forward as an industry and move onto the next phase where there is no disease of any kind. A phase where pharmaceutical researchers know exactly what to do, or exactly what problems theyre trying to solve at a minutiae levelthats when the cures come.

In 2016, Mayo Clinic and University of Utah collaborated with Ambry on a new research study of more than 60,000 patients to help refine breast cancer risk estimates from predisposition genes that are either previously lacking data or have limited data. The study, Breast cancer risks associated with mutations in cancer predisposition genes identified by clinical genetic testing of 60,000 breast cancer patients represented the largest genetic study of women with hereditary breast cancer. The large amount of data was able to provide researchers with new information about genes that contributed to breast cancer risk. Ambry wants to provide researchers with the same capabilities for autism.

Since 2001, Ambry has been dedicated to scientific research to help empower the scientific community and refine clinician management guidelines so patients may receive tailored medical management. AmbryShares initial launch in 2016 provided scientific researchers and clinicians with the largest open, de-identified database of hereditary breast and ovarian cancer cohorts with the goal of achieving a greater understanding of human disease.

For more information and to enroll in the AmbryShare autism study, visit the AmbryShare portal here.

Read More

ABOUT AMBRY GENETICS

Ambry Genetics is both College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified. Ambry leads in clinical genetic diagnostics and genetics software solutions, combining both to offer the most comprehensive testing menu in the industry. Ambry has established a reputation for sharing data while safeguarding patient privacy, unparalleled service, and responsibly applying new technologies to the clinical molecular diagnostics market. For more information about Ambry Genetics, visit http://www.ambrygen.com.

About the Center for Autism and Related Disorders (CARD)

CARD treats individuals of all ages who are diagnosed with autism spectrum disorder (ASD) at treatment centers around the globe. CARD was founded in 1990 by leading autism expert and clinical psychologist Doreen Granpeesheh, PhD, BCBA-D. CARD treats individuals with ASD using the principles of applied behavior analysis (ABA), which is empirically proven to be the most effective method for treating individuals with ASD and recommended by the American Academy of Pediatrics and the US Surgeon General. CARD employs a dedicated team of over 3,000 individuals across the nation and internationally.

For more information, visit http://www.centerforautism.com or call (855) 345-2273.

View source version on businesswire.com: http://www.businesswire.com/news/home/20170418005395/en/

Continued here:
Ambry Genetics Recruits Patient Cohorts to Discover New Links between Genes and Autism - Yahoo Finance

LOS ANGELES--(BUSINESS WIRE)--

EpicGenetics, a privately held biomedical company dedicated to improving the diagnosis and treatment of fibromyalgia, today announced that it has engaged the University of California, Los Angeles (UCLA)* and the University of Illinois College of Medicine Chicago (UIC). Both university research centers will be sequencing the exomes of patients to improve the diagnosis of fibromyalgia through the application of the FM/a Test and to allow EpicGenetics to detect fibromyalgia disease-specific gene markers. Additionally, Bruce Gillis, M.D., CEO of EpicGenetics, has made a research gift to the Immunobiology Laboratory at the Massachusetts General Hospital directed by Denise Faustman, M.D., Ph.D., to continue its robust clinical research regarding a direct treatment for fibromyalgia.

The FM/a Test is an FDA-compliant blood test that diagnoses fibromyalgia by identifying the presence of specific white blood cell abnormalities that have been documented to exist in these patients. The FM/a Test accurately and objectively diagnoses this chronic disorder that afflicts millions of men, women and children.

EpicGenetics will offer whole exome genetic surveys to FM/a test-positive patients in a search for fibromyalgia-specific gene markers and mutations, analogous to the BRCA1/BRCA2 model for breast cancer. EpicGenetics associated CAMPAIGN 250 seeks to accomplish these gene surveys in up to 250,000 FM/a test-positive individuals. The fees for these genomic surveys will be paid by EpicGenetics.

There has been very little innovation over the past several decades to help patients better understand and manage their fibromyalgia, said Frederick G. Behm, M.D., the Frances B. Geever Professor and head of pathology at the University of Illinois College of Medicine Chicago. Patients with this disorder frequently experience pain and fatigue that prohibits them from being able to engage in their daily lives. These patients are seeking answers to basic questions about the cause and etiology of the disorder and, as physicians, we are frustrated that our previously limited research in this field prevents us from being able to answer these questions.

Since becoming available in 2012, the FM/a Test has successfully and objectively diagnosed patients with fibromyalgia in the U.S. and multiple other countries, thereby providing these patients with a definitive diagnosis and certainty about a medical condition that has often been misunderstood and erroneously denied as a legitimate medical disorder, said Bruce Gillis, M.D., CEO of EpicGenetics. I believe we are at the forefront of advancing scientific information about fibromyalgia and answering these critical questions for patients: 1) Do I have fibromyalgia? 2) How and why did I develop fibromyalgia? and 3) Is there a direct treatment for fibromyalgia?

Denise Faustman, M.D., Ph.D., director of the Immunobiology Laboratory at the Massachusetts General Hospital and a noted immunologist at the Harvard Medical School, will initiate plans for a clinical trial at the Massachusetts General Hospital to test the potential of the Bacillus Calmette-Gurin(BCG) vaccine to change the biology of fibromyalgia.

FM/a test-positive patients will be offered an opportunity to participate in this vaccine trial once the study protocols have received the required institutional and regulatory approvals.

As Dr. Faustman explains, The Massachusetts General Hospital is announcing a new research effort on the application of the BCG vaccine, which will be directed at changing the biology of fibromyalgia as it concerns the foundational immune system discovery of the roleparticular cytokines have in fibromyalgia.

The FM/a Test will consequently not only serve to objectively confirm the diagnosis of fibromyalgia, but also act as the gateway for fibromyalgia patients through these newly announced research efforts to participate in genetic studies to further define their disease.

The cost of the FM/a Test is covered by most insurance companies and Medicare.

Once diagnosed by the FM/a Test, EpicGenetics will cover patients direct laboratory costs for the genetic surveys and for further research on their disease. Patients who are suspected of having fibromyalgia need a licensed health care practitioner to authorize their FM/a Test.

Read More

To learn more about the FM/a Test and these clinical studies, including details on participation, please visit http://www.FMTest.com or http://www.facebook.com/TheFMTest.

About Fibromyalgia

Fibromyalgia is a chronic disorder marked by a variety of symptoms that can include chronic diffuse pain, fatigue, sleep disturbances, muscle tenderness, headaches and depression, as well as problems with thinking and memory function. This disorder is known to impact an estimated 6 percent of the population,1 and it isnt age, gender or ethnic specific. However, due to a previous lack of diagnostic tools and a common denial of the legitimate existence of fibromyalgia, many believe that this number may in fact be much larger.2

Current treatment options for fibromyalgia are limited, offer only indirect and symptom-limited approaches, and primarily include anticonvulsants, opioids and antidepressants which help only some patients manage the disorders symptoms, though they do not treat the cause. Further, several of these treatments carry Black Box Warnings regarding their potentially dangerous side effects.

About The FM/aTest

The FM/a Test is the first FDA-compliant, objective blood test to diagnose fibromyalgia. It is a multi-biomarker-based test that analyzes immune system white blood cell production of critical chemokine and cytokine/protein patterns. These proteins demonstrate an abnormal pattern in fibromyalgia patients which the FM/a Test can identify so it will correctly and objectively diagnose this medical illness. Results of the FM/a Test are based upon a 1-100 scoring system, with fibromyalgia patients having scores higher than 50. The test has been clinically validated to diagnose fibromyalgia with a 93 percent sensitivity.

The FM/a Test is a result of research and clinical studies that were performed at the University of Illinois College of Medicine Chicago. It has been recognized by the American Association for Clinical Chemistry (AACC) for Outstanding Research in Clinical and Diagnostic Immunology. Peer-reviewed published medical studies have served as the basis of the FM/a Test, based upon the testing of hundreds of patients.

The FM/a Test is a Laboratory-Developed Test (LDT) that was developed and is performed in a CLIA certified and CAP accredited laboratory. The test fulfills the FDA regulation (21CFR 866.5700) for an immunological test system.

About EpicGenetics

EpicGenetics, Inc. is a privately held biomedical company based in Los Angeles, California, that developed and manufactures the FM/a Test. EpicGenetics is dedicated to improving the diagnosis and treatment of fibromyalgia by offering the first conclusive diagnostic test for fibromyalgia, and by investing in and developing further comprehensive clinical studies at leading medical research centers. More information is available at http://www.FMTest.com.

*UCLA has been engaged to sequence the exomes of research subjects.

i About Fibromyalgia: Prevalence. National Fibromyalgia & Chronic Pain Association. http://www.fmcpaware.org/fibromyalgia/prevalence.html. ii Arnold LM, Clauw DJ, McCarberg BH, and FibroCollaborative. Improving the recognition and diagnosis of fibromyalgia. Mayo Clin Proc. 2011;86(5):457-464.

View source version on businesswire.com: http://www.businesswire.com/news/home/20170419005324/en/

Read more:
EpicGenetics, with the Assistance of Leading Medical Centers, Expands Clinical Study of FM/a Test to Diagnose ... - Yahoo Finance

Theres no question that there are a considerable amount of sleep-deprived people out there. According to the Centers for Disease Control and Prevention, more than a third of Americans fall short of achieving the recommended seven-plus hours of sleep per night. Additionally, nearly 20 percent of Americans fall into the night owl category, meaning their internal clocks are out of sync with societys external ones, according to an article in The Wall Street Journal.

Now a newly published study by Rockefeller University researchers says some peoples clocks could be off because of a variant in their CRY1 gene, which slows the internal clock that determines when you feel sleepy. In other words, people with this gene variant have longer circadian cycles, which means that when its time to hit the hay, they may not be ready yet.

Carriers of the mutation have longer days than the planet gives them, so they are essentially playing catch-up for their entire lives, said Alina Patke,lead author of the study and a research associate in the Laboratory of Genetics at The Rockefeller University, in a statement.

The problem with being a night owl, the Wall Street Journal article explains, is that society is hard on evening types. These people go to bed later, yet many still wake early to meet societys expectationssuch as arriving at work on time. This leads to continuous sleep deprivation, which is associated with a higher risk of diabetes, obesity, cardiovascular issues, and other diseases, as well as poor mental health, impaired immunity, and a higher risk of death.

Of the approximately 10 percent of people who experience delayed sleep phase disorder (DSPD), not all have the CRY1 mutation. Other cues such as artificial lightthink smartphone screens in bedare also known to greatly disrupt a persons biological clock.

However, researchers think understanding at least one genetic mutation behind the disorder can lead to the exploration of new treatments.

Understanding how the rhythms are controlled opens the door to eventually manipulating them with drugs, Patke told LiveScience.

The implications of treatment move beyond just helping those with DSPD. Pakte explained to LiveScience that if medicine finds a way to reset night owls sleep patterns, similar treatment options could potentially be used to assist people with jet lag after traveling.

That said, night owls curious if they have the gene mutation will have to wait. No approved medical test for the variation is available yet.

In the meantime, research suggests maintaining a healthy sleep schedule by keeping consistent bed and wake times, avoiding artificial light an hour before going to bed, and exposing yourself to the sun first thing in the morning.

Share this article

View post:
Is Being a Night Owl Genetic? New Study Says It Might Be - Associations Now

Researchers named Outstanding Investigators by the National Cancer Institute-Howard Chang, Professor of Dermatology isfeaturedthis article...Full Article

How to reduce wrinkles without lasers or chemicals - S. Tyler Hollmig, Clinical Assistant professor of Dermatology is featured in this article...Full Article

Stanford team is growing healthy skin for ill patients-Jean Tang, Associate Professor of Dermatology;Peter Marinkovich, Associate Professor of Dermatology; andAnthony Oro, Professor of Dermatology are quoted in this article...Full Article

KGO TV- Filmmakers Tap Quarterback Legend To Fight Skin Cancer - Susan Swetter, MD, Stanford Professor of Dermatology isfeatured in this article...Full Article

Automated dermatologist' detects skin cancer with expert accuracy- Roberto Novoa, Clinical Assistant Professor is featured in this article...Full Article

Deep learning algorithm does as well as dermatologists in identifying skin cancer- Susan Swetter, MD, Justin Ko, MD MBA, Roberto Novoa, MD are featured in this article...Full Article

Gene therapy for blistering skin disease appears to enhance healing in clinical trial- Peter Marinkovich, MD, andJean Tang, MD, PhD, Associate Professors of Dermatologyare featured in this articleFull Article

Factors to consider before genetic testing -Joyce Teng, Clinical Associate Professor of Dermatology is featured in this articleFull Article

USPSTF: Not enough proof for visual skin Ca screening- Susan Swetter, MD, Stanford Professor of Dermatology is quoted in this article...Full Article

Possible psoriasis drug target identified - Peter Marinkovich, MD, Stanford Associate Professor of Dermatology is featured in this articleFull Story

5 Questions: Susan Swetter on choosing a sunscreen-Susan Swetter, MD, Stanford Professorof Dermatology is featured in this article....Full Article

Acne treatments: A Q&A with Stanford dermatologist Justin Ko-Justin Ko, MD, MBA, Stanford clinical assistant professor of Dermatology is featured in this article....Full Article

Ultraviolet light-induced Mutation Drives Many Skin Cancers-Paul Khavari, MD, PhD, Carl J Herzog Professor of Dermatology and chair of the Department of Dermatology is quoted on this study...Full Story

Disproportionate Rates of Melanoma Found in Marin County-Stanford professor of Dermatology, Susan Swetter, MD,, is featured in this audio forum...Audio

Antifungal drug may treat common skin cancer, study finds-Stanford associate professor of Dermatology, Jean Tang, MD, PhD, is featured in this article...Full Story

Inflammatory skin damage in mice blocked by bleach solution, study finds...Thomas Leung, MD, PhD, Stanford instructor of Dermatology and lead author comments....Full Story

New study: Genes may affect skin youthfulness...Anne Lynn S Chang, MD, Stanford assistant professor of Dermatology comments....SCOPE Blog

Melanoma deaths more likely in young men than women...Susan Swetter, MD., professor of Dermatology at Stanford is quoted....Full Story

See SCOPE Blog

How to weather summer's health challenges...Playing it safe in the sun...Susan Swetter, MD and Brooks Bahr, MD., Stanford Dermatologists are featured....See Newsletter

In The News Archive

Current Newsletter

Original post:
Dermatology - Stanford University School of Medicine ...

VALLEY COTTAGE, N.Y., April 17, 2017 /PRNewswire/ -- The Center for the Biology of Chronic Disease (CBCD) is happy to announce that the YouTube video "Natural treatment vs. Acyclovir (Zovirax) and other antiviral drugs" has gained more than half a million views. The video is available at https://youtu.be/kJzAYDEEJt0. In the video, Dr. Hanan Polansky and Dr. Edan Itzkovitz describe a clinical study that compared the natural antiviral treatment Gene-Eden-VIR/Novirin to the three antiviral drugs Acyclovir, Valacyclovir, and Famciclovir. The study showed that the natural treatment is more effective and safer than the drugs. The results of the study were published in two important peer-reviewed medical journals, Drug Design, Development and Therapy (1), and Clinical and Translational Medicine (2).

The study included 139 participants. The treatment was one to four capsules of Gene-Eden VIR/Novirin per day over a period of 2-48 months. The study included three controls recommended by the US Food and drug Administration (FDA). The study showed that Gene-Eden-VIR/Novirin safely and effectively decreased the frequency and duration of genital herpes outbreaks. The treatment was highly successful, 90.8% of the participants reported a decrease in the number of outbreaks, and 87% reported a decrease in the duration of their outbreaks.

The study published in Drug Design, Development and Therapy compared the effects of the natural antiviral treatment on the frequency of genital herpes outbreaks with the effects of the three drugs. It is important to note that these drugs are widely used by doctors as the first-line treatment in genital herpes. Remarkably, the results showed that Gene-Eden-VIR/Novirin is more effective.

The study published in Clinical and Translational Medicine recommends "suppressive (or long term) treatment with Gene-Eden-VIR/Novirin as a natural alternative to both suppressive (long term) and episodic (short term) treatments with current drugs, in both severe and mild genital herpes cases." Unlike acyclovir, valacyclovir, and famciclovir, that have known adverse effects, long time users of Gene-Eden-VIR/Novirin reported no adverse effects.

Both papers are indexed on Pubmed.com. See http://www.ncbi.nlm.nih.gov/pubmed/27621592 and https://www.ncbi.nlm.nih.gov/pubmed/27766602. Pubmed is a free search engine that lists abstracts in biomedicine and life sciences. Pubmed is maintained by the United States National Library of Medicine (NLM), at the National Institutes of Health (NIH).

According to Dr. Hanan Polansky, the lead author of both studies, "When it comes to my health, I believe in science. I am happy that the public does too."

Gene-Eden-VIR/Novirin consists of five natural ingredients, quercetin, a green tea extract, a cinnamon extract, a licorice extract, and selenium. The Gene-Eden-VIR/Novirin formula is patent protected. The formula was developed to target latent (hidden) viruses. Gene-Eden-VIR/Novirin was introduced in the marketplace at the end of 2009, and Novirin in 2014.

Media contact: Mike Davis The Center for the Biology of Chronic Disease (CBCD) 155086@email4pr.com 585-250-9999

(1) Hanan Polansky, Adrian Javaherian, and Edan Itzkovitz. Clinical study in genital herpes: natural Gene-Eden-VIR/Novirin versus acyclovir, valacyclovir, and Famciclovir. Drug Des Devel Ther. 2016; 10: 27132722. (2) Hanan Polansky, Edan Itzkovitz, and Adrian Javaherian. Clinical study of Gene-Eden-VIR/Novirin in genital herpes: suppressive treatment safely decreases the duration of outbreaks in both severe and mild cases. Clin Transl Med. 2016 Dec;5(1):40. Epub 2016 Oct 20.

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/gene-eden-virnovirin-vs-antiviral-drugs-cbcd-reports-high-interest-in-the-comparison-between-natural-treatments-and-approved-drugs-300440150.html

View post:
Gene-Eden-VIR/Novirin vs. Antiviral Drugs, CBCD Reports High Interest in the Comparison Between Natural ... - Yahoo Finance

April 17, 2017 09:48 ET | Source: Research and Markets

Dublin, April 17, 2017 (GLOBE NEWSWIRE) -- Research and Markets has announced the addition of Jain PharmaBiotech's new report "Gene Therapy - Technologies, Markets and Companies" to their offering.

Gene therapy technologies are described in detail including viral vectors, nonviral vectors and cell therapy with genetically modified vectors. Gene therapy is an excellent method of drug delivery and various routes of administration as well as targeted gene therapy are described. There is an introduction to technologies for gene suppression as well as molecular diagnostics to detect and monitor gene expression.

Clinical applications of gene therapy are extensive and cover most systems and their disorders. Full chapters are devoted to genetic syndromes, cancer, cardiovascular diseases, neurological disorders and viral infections with emphasis on AIDS. Applications of gene therapy in veterinary medicine, particularly for treating cats and dogs, are included.

Research and development is in progress in both the academic and the industrial sectors. The National Institutes of Health (NIH) of the US is playing an important part. As of 2015, over 2050 clinical trials have been completed, are ongoing or have been approved worldwide.A breakdown of these trials is shown according to the geographical areas and applications.

Gene therapy markets are estimated for the years 2016-2026. The estimates are based on epidemiology of diseases to be treated with gene therapy, the portion of those who will be eligible for these treatments, competing technologies and the technical developments anticipated in the next decades. In spite of some setbacks, the future for gene therapy is bright.The markets for DNA vaccines are calculated separately as only genetically modified vaccines and those using viral vectors are included in the gene therapy markets

Profiles of 187 companies involved in developing gene therapy are presented along with 232 collaborations. There were only 44 companies involved in this area in 1995. In spite of some failures and mergers, the number of companies has increased more than 4-fold within a decade. These companies have been followed up since they were the topic of a book on gene therapy companies by the author of this report. John Wiley & Sons published the book in 2000 and from 2001 to 2003, updated versions of these companies (approximately 160 at mid-2003) were available on Wiley's web site. Since that free service was discontinued and the rights reverted to the author, this report remains the only authorized continuously updated version on gene therapy companies.

Key Topics Covered:

Part I: Technologies & Markets

0. Executive Summary

1. Introduction

2. Gene Therapy Technologies

3. Clinical Applications of Gene Therapy

4. Gene Therapy of Genetic Disorders

5. Gene Therapy of Cancer

6. Gene Therapy of Neurological Disorders

7. Gene Therapy of Cardiovascular Disorders

8. Gene therapy of viral infections

9. Research, Development and Future of Gene Therapy

10. Regulatory, Safety, Ethical Patent Issues of Gene Therapy

11. Markets for Gene Therapy

12. References

Part II: Companies

13. Companies involved in Gene Therapy

For more information about this report visit http://www.researchandmarkets.com/research/d5gdwq/gene_therapy

Related Articles

Research and Markets Logo

LOGO URL | Copy the link below

Formats available:

Read the original:
Gene Therapy Technologies, Markets and Companies Report 2017: Profiles of 187 Companies with 232 Collaborations - GlobeNewswire (press release)

Penn Medicines new Center for Digital Health will serve as a connection between technology, social media and healthcare.

Astudy led in part by Penn scientistsexamined the DNA of over10,500 Pakistanis in order to guide research on treatments for heart disease.

Many drugs developed to lower heart disease havetargeted a gene linked to arterial plaque, Science Magazine explained. But this study found that the absence of this gene may not greatly affect one's risk for heart disease.

Instead, the study found that the absence of a different gene called APOC3 might help.

Penn professor Danish Saleheen and other researchers searched Pakistan for individuals missing a functional copy ofthe gene. Many Pakistanis marry their first cousins, so parents more frequently pass on identical copies of a gene to their children meaning that they're also more likely to pass on two nonfunctional copies.

People with these deficient copies of agene are known as genetic knockouts, Philly.com explained. Scientists can deliberately breed animals to produce knockouts, but they must survey large numbers of peopleto find them in humans.

The researchers found a man,woman and their nine children in Pakistan who were all APOC3 knockouts.

When they consumed a high-fat meal, study participants without functioningAPOC3 genes did not experience elevated levels of plasma triglycerides, according toPenn Medicine. Higher levels of triglycerides are abiomarker of heart disease risk.

The family seemed healthy otherwise, which could suggest that missing the function of the APOC3 gene could help treat heart disease without other, harmful effects, Science Magazine noted.

Saleheen told Penn Medicine that these were the worlds first APOC3 knockouts found. Hes been working in Pakistan for over 10 years, amassing as many blood samples as possible, to identify different genetic knockouts so far hes found over 1,300 in over 70,000 participants, a figure he hopes will eventually surpass 200,000 as the work continues.

The study was led by Penn's Perelman School of Medicine, the Center For Non-Communicable Diseases in Pakistan, the Broad Institute of MIT and Harvard and the University of Cambridge.

Co-senior author of the studySekar Kathiresan told Science Magazine that he hopes this work will lead to a "Human Knockout Project," similar in caliber to the Human Genome Project, in order to aggregate data on knockouts.

Read this article:
How Penn Medicine and people from Pakistan are helping fight heart disease - The Daily Pennsylvanian