Sysmex Inostics and Oxford Gene Technology Plasma and Tissue Sequencing Show Clearance of ctDNA Correlates With Pathologic Complete Response in Breast…

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HAMBURG, Germany and BALTIMORE, Jan. 28, 2020 /PRNewswire/ -- Pathologist Dr. Vincente Peg of the Vall dHebron University Hospital (Barcelona Spain) and colleagues have presented a correlation between the clearance of circulating tumor DNA (ctDNA) in HER2-positive or triple-negative breast cancer patients undergoing neoadjuvant treatment with a clinical/pathologic complete response at the American Association for Cancer Research (AACR) Advances in Liquid Biopsies conference held in Miami, Florida (USA), January 13-16, 2020. The researchers utilized both a SureSeq NGS cancer gene enrichment panel (Oxford Gene Technology, a Sysmex Group Company) for identifying lead mutations from breast cancer FFPE tissue, and Sysmex Inostics' SafeSEQ personalized liquid biopsy platform for patient-specific longitudinal analysis of plasma ctDNA.

Neoadjuvant therapy to reduce tumor size prior to surgical resection is common in the treatment of early stage breast cancer. However, there exists an unmet clinical need to distinguish those patients with residual disease after Neoadjuvant Therapy (NAT) from those who achieved complete response in order to better understand which patients are appropriately suited for surgery. Researchers from Vall dHebron deployed SureSeq NGS testing to identify driver mutations in breast cancer biopsy tissue of 29 patients with early stage disease. The mutations detected with SureSeq were subsequently followed in the plasma of patients with the SafeSEQ ultrasensitive personalized ctDNA platform to complement radiographic assessment and provide more detailed information on an individual's response to NAT.

Of 29 Stage II and Stage III triple-negative and HER2-positivebreast cancer patients examined in the study, 20 (69%) had TP53 or PIK3CA tissue mutations identified by SureSeq with 17 out of 20 (85%) patients having detectable mutations with SafeSEQ in plasma samples prior to initiation of NAT. Longitudinal plasma analysis conducted at treatment mid-point and post-treatment immediately prior to surgery demonstrated the absence of ctDNA following NAT was observed in all patients (12/12) showing a complete clinical response. However, ctDNA was detected in 3 out of 5 (60%) of patients who did not achieve complete clinical response suggesting that ctDNA testing - alongside of imaging - is an important clinical parameter to consider when determining complete response to neoadjuvant treatment.

"This study addresses the unmet need to de-escalate surgery in patients with no sign of disease." Dr. Vicente Peg commented. "How can we avoid surgically removing something that is just not there? Circulating tumor DNA by itself is able to detect 85% of patients that achieve pathologic complete response; however, when combined with imaging we can identify 100% of patients. These findings are an important first step to showing that we can accurately identify those patients who may avoid unnecessary surgery."

Reference:Ciriaco, N., Zamora, E. and Peg, V. et al. AACR Advances in Liquid Biopsy Conference 2020 Poster session B January 15, 2020. Clearance of ctDNA in triple-negative and HER2-positive breast cancer patients during neoadjuvant treatment is correlated with pathological complete responses, Poster B63.

About Sysmex Inostics

Sysmex Inostics, a subsidiary of Sysmex Corporation, is a molecular diagnostic company that is a pioneer in blood-based cell-free tumor DNA (ctDNA) mutation detection in oncology utilizing highly sensitive technologies such as OncoBEAM (digital PCR) and SafeSEQ (NGS).These technologies were initially developed by experts at the Johns Hopkins School of Medicine over a decade ago and this deep expertise in ctDNA analysis extends to the core of Sysmex Inostics' capabilities for technology development and implementation.

With more than 10 years of experience in liquid biopsy, Sysmex Inostics is a trusted partner to leading pharmaceutical companies, advancing their efforts to bring the most effective personalized cancer therapies to global markets, from discovery through companion diagnostics.

Sysmex Inostics' OncoBEAM and SafeSEQ services are readily available to support clinical trials and research in oncology. In addition, OncoBEAM tests are available through a CLIA-certified laboratory for routine clinical analysis as well as distributed kit products in the EU and Asia Pacific.

Sysmex Inostics' headquarters and GCP Service Laboratory are located in Hamburg Germany; Sysmex Inostics' CLIA-certified and GCP Clinical Laboratory is located in Baltimore, Maryland. For more information refer towww.sysmex-inostics.comor emailinfo@sysmex-inostics.com.

Contact: Sysmex InosticsPress ReleasePhone: +49-(0)-40-3259070Mail: info@sysmex-Inostics.com

SOURCE Sysmex Inostics GmbH

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CRISPR-Cas9 corrects hypertrophic cardiomyopathy gene mutation … – 2 Minute Medicine

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1. The gene editing tool CRISPR-Cas9 was used to correct a mutant paternal MYBPC3 allele in human preimplantation embryos.

2. No off-target effects were detected.

Evidence Rating Level: 1 (Excellent)

Study Rundown: A dominant mutation in the gene MYBPC3 causes hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in otherwise healthy young athletes. While most current therapies focus on relieving symptoms of HCM, researchers in this study aimed to prevent transmission of the causative gene mutation by correcting it in preimplantation embryos.

Healthy donor eggs were injected with sperm that were heterozygous for the MYBPC3 mutation. After fertilization, recombinant Cas9 protein and single guide RNA that targeted MYBPC3 were microinjected into the zygotes. A majority of treated embryos survived and lost the mutation in this gene, without other genes being impaired. CRISPR-Cas9 targeting of MYBPC3 was found to be highly specific in the treated embryos.

This study was the first to use CRISPR-Cas9 to correct a harmful mutation without causing significant off-target effects. Although this genome editing technique is still far from clinical use and requires full discussion from a bioethics perspective, this research suggests the potential clinical efficacy of this therapy for in vitro fertilization and the correction of fatal mutations.

Click to read the study in Nature

Relevant Reading: Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells

In-Depth [in vitro study]: Human zygotes were produced by fertilizing 70 oocytes without MYBPC3 mutations with sperm from an HCM patient with a heterozygous mutation in MYBPC3. Eighteen days after fertilization, recombinant Cas9 protein, short guide RNA, and single-stranded oligodeoxynucleotideswere microinjected into the cytoplasm of the zygotes. A majority of zygotes survived this procedure, with a survival rate of 97.1%. Three days after injection of the Cas9 protein, 54 injected embryos were sequenced and 66.7% were found to be homozygous for the wild-type (WT) allele of MYBPC3. Almost half of the blastomeres from mosaic embryos were also found to be homozygous for the WT allele of this gene, demonstrating that the heterozygous mutation was repaired through homology-directed repair. These analyses demonstrated the efficient targeting by CRISPR-Cas9 in human embryos.

To improve the efficacy of gene correction, CRISPR-Cas9 was mixed with sperm and injected into 75 oocytes in metaphase II. This method resulted in an increase in WT embryos, with 72.4% successfully removing the mutation. Additionally, a majority of these oocytes developed into the eight-cell stage and then blastocysts, demonstrating no significant effect on embryonic development due to this therapy.

Finally, off-target effects were assessed through whole genome sequencing, digested genome sequencing, and whole exome sequencing. No insertions or deletions were detected in the WT blastomeres at 23 off-target loci, demonstrating the high targeting efficacy and potential safety of this treatment.

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2017 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

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CDH1 gene – Genetics Home Reference – NIH

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Carneiro F, Oliveira C, Suriano G, Seruca R. Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer. J Clin Pathol. 2008 Jan;61(1):25-30. Epub 2007 May 18. Review.

Carneiro P, Fernandes MS, Figueiredo J, Caldeira J, Carvalho J, Pinheiro H, Leite M, Melo S, Oliveira P, Simes-Correia J, Oliveira MJ, Carneiro F, Figueiredo C, Paredes J, Oliveira C, Seruca R. E-cadherin dysfunction in gastric cancer--cellular consequences, clinical applications and open questions. FEBS Lett. 2012 Aug 31;586(18):2981-9. doi: 10.1016/j.febslet.2012.07.045. Epub 2012 Jul 25. Review.

Corso G, Figueiredo J, Biffi R, Trentin C, Bonanni B, Feroce I, Serrano D, Cassano E, Annibale B, Melo S, Seruca R, De Lorenzi F, Ferrara F, Piagnerelli R, Roviello F, Galimberti V. E-cadherin germline mutation carriers: clinical management and genetic implications. Cancer Metastasis Rev. 2014 Dec;33(4):1081-94. doi: 10.1007/s10555-014-9528-y. Review.

Figueiredo J, Sderberg O, Simes-Correia J, Grannas K, Suriano G, Seruca R. The importance of E-cadherin binding partners to evaluate the pathogenicity of E-cadherin missense mutations associated to HDGC. Eur J Hum Genet. 2013 Mar;21(3):301-9. doi: 10.1038/ejhg.2012.159. Epub 2012 Aug 1.

Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, Blair V, Chung DC, Norton J, Ragunath K, Van Krieken JH, Dwerryhouse S, Caldas C; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul;47(7):436-44. doi: 10.1136/jmg.2009.074237. Erratum in: J Med Genet. 2011 Mar;48(3):216. Van Krieken, Nicola [corrected to Van Grieken, Nicola C].

Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017 Mar 16. doi: 10.1038/gim.2017.11. [Epub ahead of print]

Hansford S, Kaurah P, Li-Chang H, Woo M, Senz J, Pinheiro H, Schrader KA, Schaeffer DF, Shumansky K, Zogopoulos G, Santos TA, Claro I, Carvalho J, Nielsen C, Padilla S, Lum A, Talhouk A, Baker-Lange K, Richardson S, Lewis I, Lindor NM, Pennell E, MacMillan A, Fernandez B, Keller G, Lynch H, Shah SP, Guilford P, Gallinger S, Corso G, Roviello F, Caldas C, Oliveira C, Pharoah PD, Huntsman DG. Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond. JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168. Erratum in: JAMA Oncol. 2015 Apr;1(1):110.

Kaurah P, Huntsman DG. Hereditary Diffuse Gastric Cancer. 2002 Nov 4 [updated 2014 Jul 31]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from http://www.ncbi.nlm.nih.gov/books/NBK1139/

Kobayashi H, Ohno S, Sasaki Y, Matsuura M. Hereditary breast and ovarian cancer susceptibility genes (review). Oncol Rep. 2013 Sep;30(3):1019-29. doi: 10.3892/or.2013.2541. Epub 2013 Jun 19. Review.

More H, Humar B, Weber W, Ward R, Christian A, Lintott C, Graziano F, Ruzzo AM, Acosta E, Boman B, Harlan M, Ferreira P, Seruca R, Suriano G, Guilford P. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat. 2007 Feb;28(2):203.

Oliveira C, Pinheiro H, Figueiredo J, Seruca R, Carneiro F. E-cadherin alterations in hereditary disorders with emphasis on hereditary diffuse gastric cancer. Prog Mol Biol Transl Sci. 2013;116:337-59. doi: 10.1016/B978-0-12-394311-8.00015-7. Review.

Park D, Kresen R, Axcrona U, Noren T, Sauer T. Expression pattern of adhesion molecules (E-cadherin, alpha-, beta-, gamma-catenin and claudin-7), their influence on survival in primary breast carcinoma, and their corresponding axillary lymph node metastasis. APMIS. 2007 Jan;115(1):52-65.

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One gene closer to regenerative therapy for muscular disorders – Medical Xpress

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June 1, 2017 This microscopic image of fibroblast cells shows the induction of cell fusion by a newly described gene and its protein, called myomerger. Multi-nucleus cells expressing genes needed to form skeletal muscle can be seen in flower-like clumps forming as cells fuse together. Reporting results in Nature Communications, the researchers seek ways to develop regenerative therapies for muscle disorders by getting stem cells to fuse and form functioning skeletal muscle tissues. Credit: Cincinnati Children's

A detour on the road to regenerative medicine for people with muscular disorders is figuring out how to coax muscle stem cells to fuse together and form functioning skeletal muscle tissues. A study published June 1 by Nature Communications reports scientists identify a new gene essential to this process, shedding new light on possible new therapeutic strategies.

Led by researchers at the Cincinnati Children's Hospital Medical Center Heart Institute, the study demonstrates the gene Gm7325 and its protein - which the scientists named "myomerger" - prompt muscle stem cells to fuse and develop skeletal muscles the body needs to move and survive. They also show that myomerger works with another gene, Tmem8c, and its associated protein "myomaker" to fuse cells that normally would not.

In laboratory tests on embryonic mice engineered to not express myomerger in skeletal muscle, the animals did not develop enough muscle fiber to live.

"These findings stimulate new avenues for cell therapy approaches for regenerative medicine," said Douglas Millay, PhD, study senior investigator and a scientist in the Division of Molecular Cardiovascular Biology at Cincinnati Children's. "This includes the potential for cells expressing myomaker and myomerger to be loaded with therapeutic material and then fused to diseased tissue. An example would be muscular dystrophy, which is a devastating genetic muscle disease. The fusion technology possibly could be harnessed to provide muscle cells with a normal copy of the missing gene."

Bio-Pioneering in Reverse

One of the molecular mysteries hindering development of regenerative therapy for muscles is uncovering the precise genetic and molecular processes that cause skeletal muscle stem cells (called myoblasts) to fuse and form the striated muscle fibers that allow movement. Millay and his colleagues are identifying, deconstructing and analyzing these processes to search for new therapeutic clues.

Genetic degenerative disorders of the muscle number in the dozens, but are rare in the overall population, according to the National Institutes of Health. The major categories of these devastating wasting diseases include: muscular dystrophy, congenital myopathy and metabolic myopathy. Muscular dystrophies are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. The most common form is Duchenne MD.

Molecular Sleuthing

A previous study authored by Millay in 2014 identified myomaker and its gene through bioinformatic analysis. Myomaker is also required for myoblast stem cells to fuse. However, it was clear from that work that myomaker did not work alone and needed a partner to drive the fusion process. The current study indicates that myomerger is the missing link for fusion, and that both genes are absolutely required for fusion to occur, according to the researchers.

To find additional genes that regulate fusion, Millay's team screened for those activated by expression of a protein called MyoD, which is the primary initiator of the all the genes that make muscle. The team focused on the top 100 genes induced by MyoD (including GM7325/myomerger) and designed a screen to test the factors that could function within and across cell membranes. They also looked for genes not previously studied for having a role in fusing muscle stem cells. These analyses eventually pointed to a previously uncharacterized gene listed in the database - Gm7325.

Researchers then tested cell cultures and mouse models by using a gene editing process called CRISPR-Cas9 to demonstrate how the presence or absence of myomaker and myomerger - both individually and in unison - affect cell fusion and muscle formation. These tests indicate that myomerger-deficient muscle cells called myocytes differentiate and form the contractile unit of muscle (sarcomeres), but they do not join together to form fully functioning muscle tissue.

Looking Ahead

The researchers are building on their current findings, which they say establishes a system for reconstituting cell fusion in mammalian cells, a feat not yet achieved by biomedical science.

For example, beyond the cell fusion effects of myomaker and myomerger, it isn't known how myomaker or myomerger induce cell membrane fusion. Knowing these details would be crucial to developing potential therapeutic strategies in the future, according to Millay. This study identifies myomerger as a fundmentally required protein for muscle development using cell culture and laboratory mouse models.

The authors emphasize that extensive additional research will be required to determine if these results can be translated to a clinical setting.

Explore further: Researchers turn stem cells into somites, precursors to skeletal muscle, cartilage and bone

More information: Nature Communications (2017). DOI: 10.1038/NCOMMS15665

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Scientists create world’s first mutant ants with gene editing technology – Fox News

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It may sound like a script for a science fiction movie, but scientists have created the worlds first mutant ants.

Two independent research teams have harnessed the gene editing technology CRISPR to genetically alter the ants. In one study, researchers at Rockefeller University modified a gene essential for sensing the pheromones that ants use to communicate. Experts say that the resulting deficiencies in the ants social behaviors and their ability to survive in a colony, sheds light on social evolution.

It was well known that ant language is produced through pheromones, but now we understand a lot more about how pheromones are perceived, said Daniel Kronauer, head of Rockefeller Universitys Laboratory of Social Evolution and Behavior, in a statement. The way ants interact is fundamentally different from how solitary organisms interact, and with these findings we know a bit more about the genetic evolution that enabled ants to create structured societies.

GENE EDITING BREAKTHROUGH COULD PAVE WAY FOR PIG-TO-HUMAN ORGAN TRANSPLANTS

CRISPR, which has been compared to a pair of molecular scissors, lets scientists alter or replace specific sections of DNA.

Scientists used CRISPR to disrupt a gene known asOrco in the clonal raider ant,species Ooceraea biroi, but then faced the challenge of keeping the mutant ants alive. We had to convince the colonies to accept the mutants. If the conditions werent right, the worker ants would stop caring for larvae and destroy them, said Rockefeller University graduate fellow Waring Trible, in the statement. Once the ants successfully made it to the adult phase, we noticed a shift in their behavior almost immediately.

While ants typically travel single file, researchers noticed that the mutant ants couldnt fall in line, along with other behavioral abnormalities.

DNA BREAKTHROUGH: SCIENTISTS REPAIR GENES IN HUMAN EMBRYOS TO PREVENT INHERITED DISEASES

The results of the study are published in the journal Cell.

This image shows a Harpegnathos saltator worker ant in the process of stinging a cricket to paralyze it and drag it into the nest as part of its hunting duties. (Credit: Brigitte Baella)

A separate study, also published in the journal Cell, saw scientists target the Orco gene in the Indian jumping ant,Harpegnathos saltator. Experts note that the Indian jumping ant is unlike other ant species because only the queen can mate and pass genes onto the next generation. However, any adult female worker of the species can become a pseudo queen in the queens absence.

The second study was led by researchers from New York University, NYU School of Medicine, Arizona State University, the University of Pennsylvania and Vanderbilt University.

Ant queens suppress the ability of female workers to mate and lay eggs, although if the queen is removed, the most aggressive females, after winning a series of antenna duels with rivals, can go on to lay eggs.

DNA DISCOVERY UNRAVELS THE MYSTERY OF EARLY GREEK CIVILIZATIONS

The study engineered three mutant ants to lack the Orco gene. Without the gene, females cannot process pheromones, making them less likely to engage in dueling.

"While ant behavior does not directly extend to humans, we believe that this work promises to advance our understanding of social communication, with the potential to shape the design of future research into disorders like schizophrenia, depression or autism that interfere with it," said Claude Desplan, professor at NYU's Department of Biology, and one of the reports authors, in a statement.

In a third related study by the University of Pennsylvania, scientists injected the brain chemical corazonin into ants transitioning to become a pseudo-queen, which simulated worker-like hunting behaviors, while inhibiting pseudo-queen behavior, such as dueling and laying eggs.

DNA DISCOVERY IDENTIFIES LIVING DESCENDANTS OF BIBLICAL CANAANITES

These results are also published in the journal Cell.

Gene editing has been generating plenty of buzz recently. Earlier this week, scientists announced the elimination of viruses in pigs that could be harmful to people, utilizing the CRISPR technology. The discovery could potentially lay the foundations for pig-to-human organ transplants.

GENE EDITING BREAKTHROUGH COULD PAVE WAY FOR PIG-TO-HUMAN ORGAN TRANSPLANTS

In another project, researchers used gene-editing to correct a disease-causing gene mutation in human embryos, preventing the mutation from passing to future generations. In the stunning discovery, a research team led by Oregon Health and Science University reported that embryos can fix themselves if scientists jump-start the process early enough.

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Scientists create world's first mutant ants with gene editing technology - Fox News

University of Rochester School of Medicine and Dentistry Collaborate with Admera Health in a Clinical Study … – GlobeNewswire (press release)

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May 09, 2017 09:13 ET | Source: Admera Health, LLC

SOUTH PLAINFIELD, N.J. and ROCHESTER, N.Y., May 09, 2017 (GLOBE NEWSWIRE) -- Today, the University of Rochester School of Medicine and Dentistry and Admera Health announced that enrollment had commenced in a randomized clinical study evaluating the use of pharmacogenomics to guide pain management decisions related to acute dental surgery. Specifically, the study is seeking to determine if a preoperative chair-side pharmacogenomic algorithm can significantly enhance the efficacy of surgical pain management and to characterize the association between gene-drug interactions and clinical outcomes.

Admera Health, a molecular diagnostic company, will extract and sequence DNA samples provided by the University of Rochester. Sequencing will utilize Admeras PGxOne Plus test, a 50 gene Next Generation Sequencing panel that interrogates nearly 200 different variants and provides recommendations for over 220 drugs based on an individuals unique genetic makeup.

It is well understood in the medical community that most acute surgical pain methods have shown inconsistent effects on pain relief and rely excessively on opioid use, which has associated dependency issues, as stated by Admera CEO and President Guanghui Hu. With the implementation of our PGxOne Plus test, we are confident that this study will demonstrate improved patient outcomes, similar to the way pharmacogenomics has been clinically validated in other therapeutic areas such as cardiovascular health, oncology, and psychiatric care. That is why we are excited to be working with the University of Rochester for this study.

According to the CDC, opioid-involved deaths continue to increase and have reached epidemic status. In March, a United States Senate committee opened a probe into the practices of the top manufacturers of opioid drugs.

About Admera Health

Admera Health is a CLIA-certified and CAP-accredited advanced molecular diagnostics company focused on personalized medicine, non-invasive cancer testing, digital health, and providing research use only services. Research and development efforts are dedicated to developing cutting-edge diagnostics that span the continuum of care. Utilizing next generation technology platforms and advanced bioinformatics, Admera Health seeks to redefine disease screening, diagnosis, treatment, monitoring, and management through its innovative, personalized solutions. It is our mission to deliver transformative, valuable solutions for patients, physicians, and clinical researchers. We are committed to improving the health and well-being of our global community through the direct delivery of personalized, medically actionable results.

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University of Rochester School of Medicine and Dentistry Collaborate with Admera Health in a Clinical Study ... - GlobeNewswire (press release)

Gene sequencing study reveals unusual mutations in endometriosis – Science Daily

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Gene sequencing study reveals unusual mutations in endometriosis
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Using gene sequencing tools, scientists from Johns Hopkins Medicine and the University of British Columbia have found a set of genetic mutations in samples from 24 women with benign endometriosis, a painful disorder marked by the growth of uterine ...

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Here’s Why Editas Medicine Fell as Much as 15.7% Today – Motley Fool

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What happened

Shares of gene editing pioneer Editas Medicine (NASDAQ:EDIT) dropped nearly 16% today after a new study published in Nature Methods drew attention to unintended effects of using the highly touted genetic engineering tool known as CRISPR. Shares of genome-editing peers CRISPR Therapeutics (NASDAQ:CRSP) and Intellia Therapeutics (NASDAQ:NTLA) were down as much as 6.9% and 14.9%, respectively, on the news.

The study, conducted by a team from Columbia University Medical Center, provided data showing that the technology can "introduce hundreds of unintended mutations into the genome," according to Genetic Engineering & Biotechnology News. That contradicts one of the better-known characteristics of CRISPR: precision.

Simply put, it's not sitting well with investors, who are (in knee-jerk fashion) adjusting the value placed on early-stage platforms, especially Editas Medicine, which will be the first of the group to enter clinical trials. As of 3:31 p.m. EDT, the stock had settled to a 11.3% loss.

Image source: Getty Images.

The study is among the first to quantify the specificity of CRISPR tools, which work by delivering gene editing enzymes to specific parts of the genome through the use of synthetic guide RNAs. Or that's how they're supposed to work. The authors of the study show that although intended edits can be made with respectable efficiency, such as correcting a mutation in a gene that causes blindness in mice, there are also unintended secondary edits made to the genome.

This may seem like a bombshell report, but it's a matter of optics. Researchers have never shied away from the reality that CRISPR gene editing tools can stray off target and make unintended edits to genomes in mammalian cells (i.e., humans). Many labs -- including Editas Medicine, CRISPR Therapeutics, and Intellia Therapeutics -- are working on increasing the efficiency and specificity of the technology. This is how science works. By quantifying these off-target mutations, which the paper attempted to do, researchers can begin to better understand how to improve the technology.

Investors and traders did not take the same cool-headed approach to the news, instead giving into a knee-jerk reaction to adjust the value of each pre-clinical technology platform. While off-target edits could prove troublesome for a CRISPR therapeutic used in humans, it's important to remember that there are currently no clinical trials underway in the United States. Editas Medicine will become the first to initiate a clinical trial later this year.

The sharp contrasts in reactions from researchers and investors is likely driven by how CRISPR is perceived by the media. Unfortunately, there is a generous amount of hyped-up science journalism that sticks to simple narratives -- "CRISPR has arrived and will cure all diseases!" -- instead of more nuanced takes that give equal weight to each current obstacles and future potential facing an emerging technology. Just remember: Biology is never quite so simple.

The results from the study don't really change anything, except for bringing more attention to the already existent clinical risk inherent to the development of early-stage CRISPR therapeutics. There is still plenty of work and new technology left to be developed before gene editing fulfills its promise in treating and curing human diseases. Hopefully, this can be a long-term positive for investors in CRISPR stocks by forcing them to listen to the fundamental hurdles for the technology. Hopefully.

Maxx Chatsko has no position in any stocks mentioned. The Motley Fool has no position in any of the stocks mentioned. The Motley Fool has a disclosure policy.

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Here's Why Editas Medicine Fell as Much as 15.7% Today - Motley Fool

UVA Gene Mutation Research Method Speeds Precision Medicine – Health IT Analytics

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April 25, 2017 -A team from the University of Virginia School of Medicine has developed a quicker way to examine the impact of gene mutation on patient health, potentially changing the way cancer labs conduct research into precision medicine and personalized therapies.

The methodology, which uses a virus similar to HIV to replace normal genes with specific mutations, may even be speedier and more cost effective than the CRISPR gene editing technology that currently forms the basis for much of the industrys cutting-edge genomics work.

"Every patient shouldn't receive the same treatment. No way. Not even if they have the same syndrome, the same disease," said UVA researcher J. Julius Zhu, PhD, who led the team that created the new technique. "It's very individual in the patient, and they have to be treated in different ways."

The process of understanding and testing a specific mutations impact on disease development and the usefulness of particular therapies has thus far been slow and painful, said Zhu, who holds positions in UVA's Department of Pharmacology and the UVA Cancer Center.

"You can do one gene and one mutation at a time, he said. Even with the CRISPR [gene editing] technology we have now, it still costs a huge amount of money and time and most labs cannot do it, so we wanted to develop something simple every lab can do. No other approach is so efficient and fast right now.

In addition to ramping up the velocity of studying gene mutations, the new approach may be able to reduce failures in the research process by giving researchers a more sensitive, targeted way to stimulate gene activity.

"The problem in the cancer field is that they have many high-profile papers of clinical trials [that] all failed in some way," Zhu said. "We wondered why in these patients sometimes it doesn't work, that with the same drug some patients are getting better and some are getting worse. The reason is that you don't know which drugs are going to help with their particular mutation. So that would be true precision medicine: You have the same condition, the same syndrome, but a different mutation, so you have to use different drugs."

Zhu has already used the method to analyze approximately 50 mutation of the BRaf gene, which has been tied to tumor development and certain neurodevelopmental disorders. He envisions that the technique will also help unlock the secrets of other diseases, such as Alzheimers, cystic fibrosis, and a variety of cancers all of which are top priorities for precision medicine researchers.

As the marketplace for targeted therapies and associated precision medicine technologies approaches the $100 billion mark, techniques that can help cancer researchers accelerate the development of new treatments will continue to be in high demand.

Drastically reducing the time from hypothesis to bedside will likely produce financial benefits for research labs as well as clinical benefits for patients.

You'd need to spend 10 years to do what we are doing in three months, so it's an entirely different scale, said Zhu. Now, hopefully, we can do 40 or 100 of them simultaneously."

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UVA Gene Mutation Research Method Speeds Precision Medicine - Health IT Analytics

Stem cells edited to fight arthritis – Washington University School of Medicine in St. Louis

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Goal is vaccine that targets inflammation in joints

Using CRISPR technology, a team of researchers led by Farshid Guilak, PhD, at Washington University School of Medicine in St. Louis, rewired stem cells' genetic circuits to produce an anti-inflammatory arthritis drug when the cells encounter inflammation. The technique eventually could act as a vaccine for arthritis and other chronic conditions.

Using new gene-editing technology, researchers have rewired mouse stem cells to fight inflammation caused by arthritis and other chronic conditions. Such stem cells, known as SMART cells (Stem cells Modified for Autonomous Regenerative Therapy),develop into cartilage cells that produce a biologic anti-inflammatory drug that, ideally, will replace arthritic cartilage and simultaneously protect joints and other tissues from damage that occurs with chronic inflammation.

The cells were developed at Washington University School of Medicine in St. Louis and Shriners Hospitals for Children-St. Louis, in collaboration with investigators at Duke University and Cytex Therapeutics Inc., both in Durham, N.C. The researchers initially worked with skin cells taken from the tails of mice and converted those cells into stem cells. Then, using the gene-editing tool CRISPR in cells grown in culture, they removed a key gene in the inflammatory process and replaced it with a gene that releases a biologic drug that combats inflammation.

The research is availableonline April 27 in the journal Stem Cell Reports.

Our goal is to package the rewired stem cells as a vaccine for arthritis, which would deliver an anti-inflammatory drug to an arthritic joint but only when it is needed, said Farshid Guilak, PhD, the papers senior author and a professor of orthopedic surgery at Washington University School of Medicine. To do this, we needed to create a smart cell.

Many current drugs used to treat arthritis including Enbrel, Humira and Remicade attack an inflammation-promoting molecule called tumor necrosis factor-alpha (TNF-alpha). But the problem with these drugs is that they are given systemically rather than targeted to joints. As a result, they interfere with the immune system throughout the body and can make patients susceptible to side effects such as infections.

We want to use our gene-editing technology as a way to deliver targeted therapy in response to localized inflammation in a joint, as opposed to current drug therapies that can interfere with the inflammatory response through the entire body, said Guilak, also a professor of developmental biology and of biomedical engineering and co-director of Washington Universitys Center of Regenerative Medicine. If this strategy proves to be successful, the engineered cells only would block inflammation when inflammatory signals are released, such as during an arthritic flare in that joint.

As part of the study, Guilak and his colleagues grew mouse stem cells in a test tube and then used CRISPR technology to replace a critical mediator of inflammation with a TNF-alpha inhibitor.

Exploiting tools from synthetic biology, we found we could re-code the program that stem cells use to orchestrate their response to inflammation, said Jonathan Brunger, PhD, the papers first author and a postdoctoral fellow in cellular and molecular pharmacology at the University of California, San Francisco.

Over the course of a few days, the team directed the modified stem cells to grow into cartilage cells and produce cartilage tissue. Further experiments by the team showed that the engineered cartilage was protected from inflammation.

We hijacked an inflammatory pathway to create cells that produced a protective drug, Brunger said.

The researchers also encoded the stem/cartilage cells with genes that made the cells light up when responding to inflammation, so the scientists easily could determine when the cells were responding. Recently, Guilaks team has begun testing the engineered stem cells in mouse models of rheumatoid arthritis and other inflammatory diseases.

If the work can be replicated in animals and then developed into a clinical therapy, the engineered cells or cartilage grown from stem cells would respond to inflammation by releasing a biologic drug the TNF-alpha inhibitor that would protect the synthetic cartilage cells that Guilaks team created and the natural cartilage cells in specific joints.

When these cells see TNF-alpha, they rapidly activate a therapy that reduces inflammation, Guilak explained. We believe this strategy also may work for other systems that depend on a feedback loop. In diabetes, for example, its possible we could make stem cells that would sense glucose and turn on insulin in response. We are using pluripotent stem cells, so we can make them into any cell type, and with CRISPR, we can remove or insert genes that have the potential to treat many types of disorders.

With an eye toward further applications of this approach, Brunger added, The ability to build living tissues from smart stem cells that precisely respond to their environment opens up exciting possibilities for investigation in regenerative medicine.

Brunger JM, Zutshi A, Willard VP, Gersbach CA, Guilak F. Genome engineering of stem cells for autonomously regulated, closed-loop delivery of biologic drugs. Stem Cell Reports. April 27, 2017.

This work was supported by the National Institute of Arthritis and Musculoskeletal and Skin Diseases and the National Institute on Aging of the National Institutes of Health (NIH), grant numbers AR061042, AR50245, AR46652, AR48182, AR067467, AR065956, AG15768, OD008586. Additional funding provided by the Nancy Taylor Foundation for Chronic Diseases; the Arthritis Foundation; the National Science Foundation (NSF), CAREER award number CBET-1151035; and the Collaborative Research Center of the AO Foundation, Davos, Switzerland.

Authors Farshid Guilak, and Vincent Willard have a financial interest in Cytex Therapeutics of Durham, N.C., which may choose to license this technology. Cytex is a startup founded by some of the investigators. They could realize financial gain if the technology eventually is approved for clinical use.

Washington University School of Medicines 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Childrens hospitals. The School of Medicine is one of the leading medical research, teaching and patient-care institutions in the nation, currently ranked seventh in the nation by U.S. News & World Report. Through its affiliations with Barnes-Jewish and St. Louis Childrens hospitals, the School of Medicine is linked to BJC HealthCare.

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Stem cells edited to fight arthritis - Washington University School of Medicine in St. Louis

Exercise can help offset effects of ‘fat gene,’ study finds – ABC News

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Doctors have long known that genetics can predispose some people to gain weight despite a healthy lifestyle while others seemingly never gain an ounce no matter how much they eat. A new study sheds light on how people can counteract their genetic makeup, even if it's in their DNA to put on more weight than others.

Researchers from University of North Carolina Chapel Hill, the University of Copenhagen and other institutions conducted a meta-analysis examining 60 past genetic studies to see if physical activity could mitigate the effects a genetic predisposition to weight gain.

"Decline in daily physical activity is thought to be a key contributor to the global obesity epidemic," the authors wrote. However, they explained that genetic make-up may also play a role in weight gain for people who are not physically active.

They screened for 2.5 million genetic variants in 200,452 adults and also separated the subjects between those who were physically active -- about 77 percent -- and those who were physically inactive, about 23 percent. The researchers then looked at different markers that would indicate if a person was overweight including their body-mass index, waist circumference and hip-to-waist ratio.

They found those with a genetic variation that predisposed them to gain weight -- called an FTO gene -- had the ability counteract the effects that gene through exercise. By looking at the data they found that those with the FTO gene who were physically active were able to reduce the weight-gain effects associated with the gene by about 30 percent.

Dr. Goutham Rao, chairman of Family Medicine and Community Health at University Hospitals Cleveland Medical Center, said this type of research is key in helping patients better understand their weight and health.

"Despite that sort of bad luck of having a genetic predisposition to obesity if you are physically active ... you're not going to reduce risk of obesity entirely but you reduce it significantly," Rao said.

The mechanism that leads to people with FTO to be predisposed to gain weight is still not fully understood, but Rao said it's key to give people encouragement that taking healthy steps has an effect even if they haven't reached their goal weight.

"The message is to be sympathetic," Rao said. Explaining he tells frustrated patients, "if you weren't doing your best you would weigh a lot more and be much less healthy."

Dr. Kevin Niswender, associate professor of medicine, molecular physiology and biophysics at Vanderbilt University Medical Center, said the study took on the "really interesting question" of if people can counteract their genetics through their lifestyle.

"This study definitively confirms that lifestyle has an impact," he said.

During their research the team also discovered 11 new genetic variants that likely predispose a person to weight gain and they said more may be found through similar studies.

"In future studies, accounting for physical activity and other important lifestyle factors could boost the search for new obesity genes," said Mariaelisa Graff of the University of North Carolina at Chapel Hill, the lead author of the study. "To identify more genes whose effects are either dampened or amplified by physical activity, we need to carry out larger studies with more accurate measurement of physical levels."

Niswender said finding new variants that indicate predisposition for weight gain can help give a better understanding of the complex mechanisms behind obesity.

"For a long time we've been searching for this gene, the gene that causes obesity and it's just not like that," Niswender."there are a bunch of genes that cause obesity and the effect of each gene variant is really quite small."

Graff said more study should need to be done to get more accurate measurements of the participants' physical activity. The researchers classified those as having a sedentary job, commute and leisure time as "inactive" while everyone else was declared physically active. Additionally, the study was done primarily in people of European descent, so the findings may not be be easily extrapolated to other groups.

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Exercise can help offset effects of 'fat gene,' study finds - ABC News

Recent advances in experiment and study of prostate cancer targeted therapy – Benzinga

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A recent study from Dr. Song on the topic of research progress on treatment of cancer with Compatibility of Traditional Chinese Medicine establishes that the targeted gene therapy can be effective.

Xiangtan, China (PRWEB) April 15, 2017

Cancer is one of the major life-threatening diseases that people often worry about. People suffering from cancer often undergo traditional treatments, such as surgery, chemotherapy and radiotherapy. However, such treatments could have harmful side effects.

Research from Dr. Song(Dr. Xinping Song) was recently conducted aimed at studying traditional Chinese medicine compatibility with respect to treating prostate cancer. The study reveals that the targeted gene therapy can be an effective way.

The study also points out the targeted gene therapy can be combined with other therapies for a more effective result. However, this therapy is also not mature enough to address all health issues related to the prostatic cancer. In such a scenario, Dr. Song's 3D Prostate Targeted Treatment emerges as an innovative treatment for prostate cancer. The research revealed that the therapy can be combined with local targeted injections. The technique makes the therapy effective and increases its killing effect on cancer cells.

Dr. Song's treatment is based on the direct injection technique of the traditional Chinese medicine system. Dr. Xinping Song acknowledges the findings of the research and also the anti-cancer extract compatibility of the traditional Chinese medicine. In this prostate cancer treatment, patients are given small targeted injections in the affected areas of the prostate to help eliminate causative pathogens and clear the blockage. The injections carry herbal extracts only.

Dr. Song believes that the traditional Chinese anticancer medicine can better interpose with the symptoms of cancer patients. Dr. Song's prostate cancer treatment that follows the principles of traditional Chinese medicine is a clinical breakthrough. This innovative treatment brings more advantages in patients and their family's lives.

At Dr. Song 3D Urology and Prostate Clinic, patients can undergo all types of prostate care and treatment, including the treatment for the prostate cancer. This natural treatment method saves the cost and also meets the patient's requirements. With a non-surgical and quality treatment, patients can gradually improve their health and get rid of their pain and sufferings. To know more about Dr. Song's 3D prostate treatment, one can visit the website http://www.prostatecancer.vip/.

About 3D Urology and Prostate Clinic

The 3D Urology and Prostate Clinic is a premier prostate treatment clinic. The clinic specializes in treating various types of prostate diseases and complications, such as prostatitis, enlarged prostate, benign prostatic hyperlasia (BPH), prostate cancer, seminal vesiculitis, epididymitis,cystitis, prostate blockage and calcification, and chronic pelvic pain syndrome (CPPS), etc. The clinic is a medical clinic, licensed and approved by the Ministry of Health of the People's Republic of China.

For Media Enquiry Contact Person: Alisa Wang Telephone: 86-186-7321-6429 WhatsApp: + 86 -186-73216429 Email: prostatecure3d@gmail.com Website: http://www.prostate-3dcure.com

For the original version on PRWeb visit: http://www.prweb.com/releases/Dr-Song/04/prweb14247467.htm

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Recent advances in experiment and study of prostate cancer targeted therapy - Benzinga

Gene-editing alternative corrects Duchenne muscular dystrophy – Science Daily

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Gene-editing alternative corrects Duchenne muscular dystrophy
Science Daily
... of the Hamon Center for Regenerative Science and Medicine. Duchenne muscular dystrophy is caused by a mutation to one of the longest genes in the body. When there is a DNA error in the dystrophin gene, the body doesn't make the protein dystrophin, ...

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Gene-editing alternative corrects Duchenne muscular dystrophy - Science Daily

Scientists and Students Share Insights at Computational Research Day – Northwestern University NewsCenter

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Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered the keynote address at Computational Research Day, on human genome sequencing.

Northwesterns 4th Annual Computational Research Day brought together more than 350 faculty members and students to showcase innovative research projects, share recent insights and tools, and strengthen the computational research community throughout the university.

The event, co-sponsored by Feinberg and hosted by Northwestern Information Technology on the Evanston campus, featured presentations, a poster competition, workshops, software demos and group discussions, all centered on leveraging computational methods to answer complex research questions.

Rex Chisholm, PhD, vice dean of Scientific Affairs and Graduate Education, kicked off the conference with an opening address discussing the Northwestern Medicine Enterprise Data Warehouse, which currently holds more than 40 terabytes of clinical and research data.

We are in a completely different world today, where instead of paper records, everybodys health is now captured in an electronic record, said Chisholm, also the Adam and Richard T. Lind Professor of Medical Genetics. The ability to put that data together in a single place and start to think about big data approaches to identifying patterns in that collection of data is a major game-changer.

Chisholm also spoke about the opportunity for merging such health information with data from the NUgene Project, a genomic biobank sponsored by the Center for Genetic Medicine, which has so far sequenced the genomes of more than 1,000 participants. What we really want to do is combine that 100 terabytes of human sequence data with that 40 terabytes of phenotypic data and do an all-by-all comparison, Chisholm said. Its a classic example of a big data opportunity. And its certain that this approach once we figure out how to do it is going to completely revolutionize how we think about disease: how we think about treatment of disease, how we diagnose disease, and how we actually help people prevent disease.

Elizabeth McNally, MD, PhD, director of the Center for Genetic Medicine, delivered a keynote address on human genome sequencing and echoed the opportunities offered by computational research. This really is an area where there has been a lot of need for big data analysis and its definitely not shrinking anytime soon, said McNally, also the Elizabeth J. Ward Professor of Genetic Medicine.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented at the poster session.

In addition to biomedical research, the conference also highlighted the use of computing in a wide range of other disciplines, from economics and engineering to applied physics and the social sciences. A guest keynote address was delivered by Desmond Patton, PhD, MSW, assistant professor at the Columbia University School of Social Work, who presented on his research into innovating gang violence prevention through qualitative analysis and natural language processing of social media data.

During the speaker sessions, Paul Reyfman, MD, a fellow in pulmonary and critical care, shared his research using transcriptomics to investigate lung diseases.

Gary Wilk, a PhD student in the laboratory of Rosemary Braun, PhD, MPH, assistant professor of Preventive Medicine in the Division of Biostatistics, presented his research, Genetic Variants Modulate Gene Regulation by microRNAs in Cancer, at the events poster session.

We came up with a novel approach using computational methods to integrate many different molecular cancer datasets from large cancer cohorts, and we applied them to find these results, Wilk said.

At the poster session award ceremony, Yoonjung Yoonie Joo, a Health and Biomedical Informatics PhD student in the Driskill Graduate Program (DGP), received second-place for Phenome-wide Association Studies of Polycystic Ovary Syndrome (PCOS), her research with principal investigator M. Geoffrey Hayes, PhD, associate professor of Medicine in the Division of Endocrinology.

Our project identified several significant phenotypic associations with PCOS risk alleles, including diabetes and its comorbidities, Joo said. We suggested novel etiologic pathways underlying PCOS susceptibility loci, enabling biomedical researchers to potentially discover new therapeutic targets for PCOS treatment in the future.

The first-place prize was awarded to Shannon Brady, in the Weinberg College of Arts and Sciences, with third-place going to Jamilah Silver, in the School of Education and Social Policy.

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Scientists and Students Share Insights at Computational Research Day - Northwestern University NewsCenter

Gene Therapy Market 2020 Increasing Demand with Leading Key Players Bluebird Bio, Editas Medicine, GlaxoSmithKline Plc., Intellia Therapeutics -…

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Gene therapy is a technique that involves the delivery of nucleic acid polymers into a patients cells as a drug to treat diseases. It fixes a genetic problem at its source. The process involves modifying the protein either to change the genetic expression or to correct a mutation. The emergence of this technology meets the rise in needs for better diagnostics and targeted therapy tools. For instance, genetic engineering can be used to modify physical appearance, metabolism, physical capabilities, and mental abilities such as memory and intelligence. In addition, it is also used for infertility treatment. Gene therapy offers a ray of hope for patients, who either have no treatment options or show no benefits with drugs currently available. The ongoing success has strongly supported upcoming researches and has carved ways for enhancement of gene therapy.

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Leading Gene Therapy Market Players:

The Gene Therapy Market report give a 360-degree holistic view of the market and highlights the key developments, drivers, restraints and future trends with impact analysis of these trends on the market for short-term, mid-term and long-term during the forecast period. In addition, the report also provides profiles of major companies along with detailed SWOT analysis, financial facts and key developments of products/service from the past three years.

The global gene therapy market is segmented based on vector type, gene type, application, and geography. Based on vector type, it is categorized into viral vector and non-viral vector. Viral vector is further segmented into retroviruses, lentiviruses, adenoviruses, adeno associated virus, herpes simplex virus, poxvirus, vaccinia virus, and others. Non-viral vector is further categorized into naked/plasmid vectors, gene gun, electroporation, lipofection, and others. Based on gene type, the market is classified into antigen, cytokine, tumor suppressor, suicide, deficiency, growth factors, receptors, and others. Based on application, the market is divided into oncological disorders, rare diseases, cardiovascular diseases, neurological disorders, infectious disease, and other diseases. Based on region, it is analyzed across North America, Europe, Asia-Pacific, and LAMEA.

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Table of Contents

Chapter 1: Introduction

Chapter 2: Executive Summary

Chapter 3: Market Overview

Chapter 4: Gene Therapy Market, By Component

Chapter 5: Gene Therapy Market, By Deployment

Chapter 6: Gene Therapy Market, By Organization Size

Chapter 7: Gene Therapy Market, By Application

Chapter 8: Gene Therapy Market, By Region

Chapter 9: Competitive Landscape

To Continue

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Gene Editing Researcher Receives ASAN Award In Basic Medicine – Asian Scientist Magazine

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IBS Center for Genome Engineering Director Kim Jin-Soo was recognized for his work on making CRISPR-Cas9 technology more precise and stable.

Asian Scientist Newsroom | April 12, 2017 | Top News

AsianScientist (Apr. 12, 2017) - Professors Kim Jin-Soo and Han Duck-Jong have been honored with the 10th ASAN Award in Basic Medicine and Clinical Medicine, respectively. The ASAN Award for Young Medical Scientists went to Professor Choi Jung-Kyoon at the Department of Bio and Brain Engineering at KAIST and Professor Ahn Jung-Min at the Department of Cardiology at the University of Ulsan College of Medicine.

The basic and clinical medicine winners each received 300 million won (~US$262,000) while the Young Medical Scientists received 50 million won (~US$44,000) at an awards ceremony held on March 20, 2017.

The ASAN Award in Medicine was established in 2007 by the ASAN Foundation to discover and encourage medical scientists who have achieved remarkable accomplishments in the fields of basic and clinical medicine.

Kim, who is the Director of the Institute for Basic Science Center for Genome Engineering, was recognized for his work on making the CRISPR-Cas9 gene editing system more precise and stable.

Using genome editing techniques, I'd like to focus on research which is helpful for patients with genetic and degenerative diseases as well as cancer that are considered intractable. I'll strive harder to develop and commercialize treatments that can directly help such patients, he said.

This honor is largely attributed to the dedicated researchers who have worked with me. I see this award as encouragement for me to contribute to society and humanity by devoting myself more to research.

Source: Institute for Basic Science; Photo: ASAN Foundation. Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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Gene Editing Researcher Receives ASAN Award In Basic Medicine - Asian Scientist Magazine

Genetron Health Contributes to Chinas First Expert Consensus Statement on the Standardized Clinical Application of NGS Testing for Oncology – Yahoo…

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The "Beijing Expert Consensus Statement on the Standardized Application of Next-Generation Sequencing Technology in Clinical Tests - Tumor (1st Edition)" has been officially published in Chinese Medical Journal. The drafting of this statement was led by Beijing Center for Clinical Laboratory, Beijing Society of Laboratory Medicine, Capital Medical University-Clinical Laboratory Diagnostics Department, and Beijing Quality Control and Improvement Center for Medical Laboratory Tests. It represents the first authoritative consensus on the standardized application of next-generation sequencing (NGS) technology in oncological clinical practice within China. It consequently serves as a base for standardized operation and management of NGS clinical laboratories. Genetron Holdings Limited ("Genetron Health") has been highly recognized by the drafting agencies, and ranks first place in the acknowledgements for its outstanding contribution.

NGS testing enables detection of somatic mutation in solid tumors; this statement elaborates on its intended clinical use, testing method establishment and optimization, LDTs analytical validation, and key pre-, in- and post-analysis quality assurance steps. Such testing is currently used to provide guidance for tumor targeted medicine and monitoring, as well as to evaluate immunotherapy efficacy. With the emergence of biomarkers, new NGS technology continues to be introduced to clinical testing, and the uses of technology are expected to expand further. The consensus statement will be amended accordingly to adapt to the guidelines for NGS-based tumor gene mutation detection in clinical practice.

Genetron Health is committed to providing quality products and services. The company actively work with institutions, experts and peers to promote the regularized and standardized application of NGS technology, and promote the development of precision medicine to benefit more patients.

About Genetron Health

Genetron Health is a leading and fast-growing precision oncology company in China that aims to provide one-stop genomic profiling solutions for multiple scenarios covering early screening, diagnosis and monitoring, and biopharmaceutical services. The company collaborates with over 400 hospitals and dozens of biopharmaceutical companies and research institutions and has developed a large proprietary genomic database.

Genetron Health has established R&D centers in both the United States and China, two manufacturing facilities with both ISO 13485:2016 certification and ISO 9001:2015 certification in China and five clinical laboratories in Beijing (CLIA accreditation and CAP certification), Shanghai, Hangzhou, Chongqing and Guangzhou. The R&D capacities of Genetron Health are supported by a best-in-class research and development team led by scientists at the forefront of cancer genomics research. The company has published many research papers in highly influential worldwide peer-reviewed scientific journals, such as Nature Genetics, Nature Communications, Cell Research and PNAS.

View source version on businesswire.com: https://www.businesswire.com/news/home/20200320005341/en/

Contacts

For media inquiries, please contact:Huairan LiuE-mail: pr@genetronhealth.com

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Genetron Health Contributes to Chinas First Expert Consensus Statement on the Standardized Clinical Application of NGS Testing for Oncology - Yahoo...

Novartis wins key European recommendation for gene therapy Zolgensma – Reuters

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FILE PHOTO: The company's logo is seen at a building of Swiss drugmaker Novartis in Rotkreuz, Switzerland, January 29, 2020. REUTERS/Arnd Wiegmann

ZURICH (Reuters) - Swiss drugmaker Novartis on Friday won a key European recommendation for its gene therapy Zolgensma against spinal muscular atrophy (SMA), clearing a hurdle for $2.1 million per patient treatment for approval in Europe within months.

The European Medicines Agencys (EMA) Committee for Human Medicines (CHMP) recommended conditional approval for Zolgensma for certain patients: those with Type 1 SMA, the severest form of the disease, or for SMA patients with up to three copies of the so-called SMN2 gene, an indicator of the diseases severity.

The EMAs conditional approval is meant to speed up access to medicines for unmet needs, based on less-complete data than normally expected.

Typically the European Commission approves medicines for use shortly after a CHMP recommendation, and Novartis is expecting a decision by June. The medicine, the worlds costliest one-time treatment at its U.S. list price, has already been approved in the United States and Japan.

Novartis is counting on the gene therapy becoming a billion-dollar-per-year seller. Zolgensma is the second treatment for SMA to be approved after Biogens Spinraza three years ago. Roche is expecting its oral drug risdiplam to win U.S. regulators blessing in May.

Reporting by John Miller; Editing by Michael Shields

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In Conversation with Professor Kathryn North – Australian Hospital + Healthcare Bulletin

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In Conversation provides a glimpse into the life of an outlier an exceptional person going above and beyond to improve outcomes in their field. In 2019, Professor Kathryn North AC won the prestigious Peter Wills Medal Research Australias flagship award in recognition of her outstanding leadership in genomic medicine, which has helped drive Australias international reputation in this field.

As Director of the Murdoch Childrens Research Institute, Professor North plays a key role in integrating genomic testing and diagnosis into standard health care, with the aim to shorten diagnosis times and increase diagnostic rates to enable early intervention as well as provide access to treatment for people with genetic disorders and cancer. Through her own research, she has worked to identify new disease genes and improve diagnosis, setting the benchmark for ongoing research efforts.

This award, which Im incredibly thrilled to receive, really recognises a range of roles Ive played not just as an individual researcher but as part of the efforts of hundreds of researchers in Australia and around the world working together to bring advanced genomics into standard health care.

After training as a child neurologist, I became increasingly fascinated by genetics and its potential to predict, diagnose and help treat disease. The lure of research drew me back to the lab, with a major focus on inherited muscle diseases like muscular dystrophy, which can lead to lifelong disability in affected children and adults. My work in this area led me to discover the effects of the gene ACTN3, which influences muscle power and recovery from damage and was subsequently dubbed the gene for speed.

We studied elite athletes and demonstrated that ACTN3 is a major determinant of skeletal muscle performance, but my team has also recently shown that variations in ACTN3 influence disease severity and progression in Duchenne muscular dystrophy. We are now studying how it influences muscle-wasting associated with ageing, steroid use and cancer.

My research is just one example of how genomic medicine can make a tremendous difference. This led me to help establish Australian Genomics, a national network of clinical and laboratory genetics services, hospitals, universities, research institutions and patient advocacy groups working together to establish procedures to enable all Australians access to genomic health care. The Murdoch Childrens Research Institute is now at the forefront of the genomics revolution, translating the latest discoveries into clinical practice.

An accurate diagnosis is hugely important because it gives answers to both the patient and the clinician. In my work as a paediatrician, Ive seen parents desperately seeking an answer to the cause of their kids intellectual or physical disability, wanting to know about their childs future and whether they would have other affected children.

Previously, we just couldnt answer these questions. Advances in genetic technology mean all genes can now be sequenced quickly and cheaply, and the information used to predict, diagnose and treat rare diseases as well as many forms of cancer.

Medical genetics and genomics has changed dramatically since the mid 90s. In the past we were able to give families with affected children a clinical description, but couldnt accurately put a label on what exactly was wrong.

The Human Genome Project and the development and rollout of advanced next-generation, ultrarapid gene sequencing have been an absolute game changer. I couldnt have imagined that wed be using genome technologies in the clinic within two years of using it in a research setting, increasing the diagnostic rate fivefold, and having geneticists working side by side with intensive care physicians to provide that diagnosis within three days.

We can now provide a genetic diagnosis for 50 to 90% of our families and answer these difficult questions.

Genomics is absolutely going to transform healthcare delivery. Using global data gathered and shared responsibly from millions of people, we can be much more accurate in making a prediction about the individual. We will be able to move to a healthcare model of prediction, prevention, early intervention and targeted treatment, and eventually improve and maintain the wellness of the population rather than focusing solely on illness.

This will no doubt come with significant challenges. To overcome these we need to approach genomics at the local and national level, and partner globally to be able to apply our insights to individuals accurately and with meaning.

Its incredibly important we engage at a public level so the community can understand our work. We need to bring the public along on this journey and explain the applications and great benefits of applying big data and genomic technologies to benefit individual patients. Its up to us as doctors and researchers to convey those messages accurately, strongly and with a united voice.

Research Australias Health and Medical Research Awards are important because they increase the visibility of science in general and medical research in particular within the community. They bring recognition to the researchers behind some of Australias most exciting medical and health discoveries, and kickstart conversations we need to be having to harness the possibilities of science for community benefit.

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In Conversation with Professor Kathryn North - Australian Hospital + Healthcare Bulletin