Category Archives: Genetic medicine

Dimitri Maamari1 ,* Habib El-Khoury1 ,* Omran Saifi,1 Samar A Muwakkit,2 Nathalie K Zgheib3

1Faculty of Medicine, American University of Beirut, Beirut, Lebanon; 2Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; 3Department of Pharmacology and Toxicology, American University of Beirut, Faculty of Medicine, Beirut, Lebanon

*These authors contributed equally to this work

Correspondence: Samar A Muwakkit; Nathalie K Zgheib Email sm03@aub.edu.lb; nk16@aub.edu.lb

Abstract: Despite major advances in the management and high cure rates of childhood acute lymphoblastic leukemia (ALL), patients still suffer from many drug-induced toxicities, sometimes necessitating dose reduction, or halting of cytotoxic drugs with a secondary risk of disease relapse. In addition, investigators have noted significant inter-individual variability in drug toxicities and disease outcomes, hence the role of pharmacogenetics (PGx) in elucidating genetic polymorphisms in candidate genes for the optimization of disease management. In this review, we present the PGx data in association with main toxicities seen in children treated for ALL in addition to efficacy, with a focus on the most plausible germline PGx variants. We then follow with a summary of the highest evidence drug-gene annotations with suggestions to move forward in implementing preemptive PGx for the individualization of treatment regimens for children with ALL.

Keywords: pharmacogenetics, childhood ALL, implementation

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Implementation of Pharmacogenetics to Individualize Treatment Regimens | PGPM - Dove Medical Press

Noel Rose, an immunologist and microbiologist whose early experiments underpinned the molecular mechanisms of autoimmune disease, died of a stroke July 30. He was 92.

As a young medical student, Rose worked alongside his mentor, Ernest Witebsky of the University at Buffalo, studying organ-specific antigens. The prevailing hypothesis for the last half century had been that the body was incapable of producing antigens against itself, an idea known as horror autotoxicus. Witebskys own academic lineage stretched back to the ideas original progenitor, Paul Ehrlich, who had coined the term in the late 19th century.

But Rose showed that rabbits injected with their own thyroid-derived antigens mounted an immune response against the invading molecules that damaged or destroyed the animals thyroid. The body was indeed capable of attacking itself. The results were so outlandish that the first journals refused to publish the findings, and it took years of careful experimentation to finally topple the paradigm of horror autotoxicus.Over the next several decades, Rose would further characterize the genetic and environmental causes of autoimmune diseases, publishing more than 880 articles and book chapters on the subject, according to Johns Hopkins University.

In every aspect, [Rose] is the father of autoimmunity, George Tsokos, a professor of rheumatology at Harvard Medical School, told The Scientist in a profile of Rose this year. The man opened a whole chapter in the book of medicine.

Currently, there are more than 80 recognized autoimmune diseases, including lupus, type 1 diabetes, rheumatoid arthritis, and AIDS, that have sickened more than 20 million Americans. Speaking to The Washington Post in 1995, Rose called autoimmune diseases one of the big three, meaning cancer, heart disease, and autoimmune disease.

Rose was born December 3, 1927, in Stamford, Connecticut. His father, a physician who served during World War II, became a specialist in treating rheumatic fever, now considered to be an autoimmune disease, the Post reports.

Prior to his groundbreaking work, Rose frequently brushed up against the limitations of medical knowledge at the time. When he began his undergraduate degree at Yale University in the mid-1940s, he wanted to study microbiology, but he was only able to attend a handful of classes on the topic. Instead, he majored in zoology and took the electives in microbiology, which were taught by botanistsbacteria were largely thought to be plants at the time, The Scientist reported in June.

Rose decided to complete a PhD ahead of attending medical school. He joined the lab of microbiologist Harry Morton at the University of Pennsylvania in 1948, where he spent the next several years studying the flagella-like motor structures of Treponema pallidum, the bacterium that causes syphilis.

Next, Rose enrolled as a medical student at the University at Buffalo, where he would make many of his most important medical discoveries. It was here, working alongside Witebsky, that he first demonstrated autoimmunity in rabbits.

Rose extracted a protein called thyroglobulin from humans, horses, and pigs, treated it with a solution called Freunds adjuvant to induce an immune response, and injected it into rabbits. Even though the injected thyroglobulin was similar to the protein already in the rabbits body, the animals still produced protective antibodies. This was true even when the protein, primed by the adjuvant that induces an immune response, came from another rabbit, and most surprisingly, when the protein was extracted and re-injected into the same animal. When he looked at the thyroids of these rabbits, he found that they were often damaged, and sometimes destroyed, by the bodys own immune response.

After having their findings rejected during peer review, Witebsky and Rose turned to studying autoimmunity in humans, determined to replicate and refine their work. They focused on Hashimotos disease, a rare thyroid condition with no identifiable cause, showing that serum taken from patients developed the same type of antibodies when exposed to thyroglobulin that they had seen in rabbits. We went ahead and showed that this same destruction applies to humans and that you could induce a disease in an organ by immunizing it with a specific antigen of the same species, Rose had told The Scientist. And that was autoimmunity.

Having overturned the idea of horror autotoxicus, Rose says, the work came out of the walls, and he spent the next several decades furthering the study of autoimmune diseases. He graduated with his MD in 1964 and remained at the University at Buffalo. According to a memorial page by Johns Hopkins University, where his career would eventually take him, his lab at Buffalo was the first to show that the genes for the major histocompatibility complex, closely linked on human chromosome six, contain the primary genes that determine the risk for autoimmune diseases.

Rose moved his lab to Wayne State University in 1973, where he remained for almost a decade before finally accepting a position at Johns Hopkins in 1981 in the Bloomberg School of Public Health. There, Rose focused on environmental conditions that could trigger disease. In many diseases, Rose told The Scientist, genetics was always less than half the risk. We thought something from the environment must be involved.

His later work focused on myocarditis, an inflammation of the heart muscle, and Rose was still working up until his death. He found great promise in the advent of big data and using it to analyze hundreds or thousands and patients to identify the best possible treatments and preventives. What we want to do is avoid the train wreck from the beginning, and I think we can begin to do that, Rose told The Scientist. Thats what Im excited about.

Rose is survived by his wife of 69 years, Deborah, two sons, two daughters, 10 grandchildren, and five great-grandchildren.

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Noel Rose, Who Demonstrated Autoimmunity Exists, Dies at 92 - The Scientist

DENVER, Aug. 11, 2020 In a pioneering study, CCRM Fertility has identified epigenetic alterations in sperm from men age 50 and older that predispose children to neurodevelopmental disorders, such as autism, bipolar disorder and schizophrenia. CCRM Fertility's groundbreaking research was published in the July issue of Aging Cell.

Led byCCRM Fertility's Scientific and Genetics DirectorMandy Katz-Jaffe,Ph.D.,the study examined sperm samples of men age 50 and older compared to their younger counterparts, as well as embryos that were created using donor eggs from young, fertile women.

By analyzing the sperm's DNA through a process known as whole-genome bisulfite sequencing, CCRM Fertility found significant methylation (the "on and off switch" for the expression of genes) alterations in both sperm and embryos from fathers age 50 and older. The abundance of methylation alterations was most associated with genes associated with neurodevelopmental disorders including autism, schizophrenia and bipolar disorder.

"While we have known that there is a correlation between advanced paternal age and risks of offspring neurodevelopmental disorders, this is the first time we've been able to identify an associated mechanism and inheritance," explains Dr. Katz-Jaffe. "It's an exciting breakthrough as we continue our researchinvestigating the male sperm genome, advanced paternal age risks and future healthy offspring."

William Schoolcraft, M.D., CCRM Fertility founder and medical director, adds,"Oftentimes, men fail to realize there is an ideal timeframe for their own roles in fertility. We hope our research raises further awareness around the male biological clock and encourages men in their 30s and 40s who plan to have children in the future to consider freezing their spermto maximize the chance of having a healthy baby."

About CCRMFertilityFounded by Dr. William Schoolcraft in 1987, CCRM(Colorado Center for Reproductive Medicine)Fertilityis the nation's leader in fertility care and research.CCRMFertilityspecializes in the most advanced fertility treatments, with deep expertise in in vitro fertilization (IVF), fertilityassessment, fertility preservation, genetic testing, third party reproduction and egg donation.Unlike many other fertility clinics that outsource their specialists and testing needs, CCRMFertilityleverages its own data, as well as a dedicated team of in-house reproductive endocrinologists, embryologists and geneticists in order to deliver industry-leading outcomes. CCRMFertilityoperates 11 fertility centers (including 26 offices) throughout North America, serving prospective parents in major metropolitan areas, including Atlanta, Boston, Dallas-Fort Worth, Denver, Houston, New York, Northern Virginia, Minneapolis, Orange County, San Francisco Bay Area and Toronto. For more information, visitwww.ccrmivf.com,become a fan onFacebook,or follow us onInstagramandTwitter.

SOURCE CCRM Fertility

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CCRM Fertility Identifies Epigenetic Alterations in Sperm and Embryos of Older Men that Predispose Children to Autism and Other Neurodevelopmental...

Accurate identification of antibiotic resistance markers based on the ARESdb QIAGEN CLC Module leveraging Ares Genetics proprietary antibiotic resistance database

Pathogens correctly identified with 100% sensitivity and specificity, antibiotic resistance markers with >95% sensitivity and >99% specificity, respectively

Study paves the way for routine clinical diagnostic application of next-generation sequencing (NGS) in timely as well as accurate infectious disease testing and drug susceptibility prediction

VIENNA, Austria, and GAITHERSBURG, Md., Aug. 11, 2020 (GLOBE NEWSWIRE) -- Ares Genetics GmbH(Vienna, Austria; Ares Genetics), a subsidiary of OpGen, Inc. (Nasdaq: OPGN, OpGen), announced today the publication of a peer-reviewed study that demonstrates the feasibility of a highly accurate and reproducible sample-to-insight workflow for various clinical microbiology assays including the molecular identification of bacterial pathogens and their genetic markers of antibiotic resistance (Ref. 1).

The combined laboratory and bioinformatics workflow was developed following requirements of the U.S. Clinical Laboratory Improvement Act (CLIA) for laboratory-developed tests (LDTs). The bioinformatics analysis workflow leverages the QIAGEN CLC Microbial Genomics ARESdb Module for detection of antibiotic resistance (AMR) markers (Ref. 2). Powered by artificial intelligence, Ares Genetics ARESdb is a comprehensive, global and continuously updated proprietary knowledgebase on AMR markers and their diagnostic relevance. Under a license from Ares Genetics, the QIAGEN CLC Microbial Genomics ARESdb Module provides users information about diagnostic performance parameters for individual AMR markers at antibiotic compound resolution and thereby addresses a key limitation of public AMR databases (Ref. 3).

The workflow was validated in a study focused on particularly challenging and clinically prevalent multi-drug resistant ESKAPE pathogens (Enterococcus faecium, Staphylococcus aureus, Klebsiella pneumoniae, Acinetobacter baumannii, Pseudomonas aeruginosa, Enterobacter cloacae) including the WHO priority 1 pathogens (Ref. 4). In this study, the workflow demonstrated >99% repeatability, reproducibility, and accuracy. Pathogens were correctly identified with 100% sensitivity and specificity, AMR markers with >95% sensitivity and >99% specificity, respectively.

Dr. Andreas Posch, CEO of Ares Genetics and corresponding author of the study, commented, This study demonstrates that next-generation sequencing in combination with a standardized bioinformatics workflow and a curated interpretation database enables a wide array of clinical microbiology assays with the performance and quality that meet the high standards required for human diagnostic use. We are very pleased to reach this important milestone in our development of universal molecular diagnostic solutions for the timely detection of pathogens and accurate prediction of antibiotic susceptibility.

Ares Genetics currently offers NGS-based clinical microbiology assays for epidemiology, infection control and research via its AI-powered bioinformatics platform ares-genetics.cloud under the brand name ARESupa - Universal Pathogenome Assay. In a recently published multi-center study, Ares Genetics demonstrated that ares-genetics.cloud can also accurately predict antibiotic susceptibility based on complex DNA signatures that are interpreted by combining ARESdb with artificial intelligence (Ref. 5). The combination of high-resolution NGS and AI-powered data interpretation can enable accurate as well as comprehensive molecular antibiotic susceptibility testing and has the potential to provide information on antibiotic therapy response much faster than current culture-based approaches.

Dr. Andreas Posch added: Highly standardized laboratory workflows like the one we realized in this study, are an important prerequisite for fast and reliable molecular solutions for pathogen identification and antibiotic susceptibility prediction in the clinical routine. They allow locally performed NGS analysis for expeditious turnaround times and cloud-based AI-powered data interpretation for clinical decision support. This enables new business models combining traditional IVD instrument and reagent business with SaaS business and hence paves the way for digital diagnostic companies like Ares Genetics.

Microbial infections and antibiotic resistance have become major healthcare challenges with rapidly spreading antimicrobial resistance estimated to have caused 700,000 deaths globally in 2016, a number that is projected to dramatically increase to 10 million deaths annually by 2050 if no countermeasures are taken (Ref. 6). While on July 9th 2020, more than 20 leading biopharmaceutical companies announced the launch of the AMR Action Fund aiming to bring two to four new antibiotics to patients by 2030, a recent white paper by Ares Genetics highlights the urgent need for novel diagnostic approaches to allow for rapid identification of causative pathogens and their susceptibility to available antibiotic options, in order to guide appropriate treatment of patients while enabling prudent and informed use of existing or future new antibiotics (Ref. 7).

The studies by Ares Genetics were supported through funding provided by the Vienna Business Agency and the Austrian Research Promotion Agency.

References

About OpGen, Inc.

OpGen, Inc. (Gaithersburg, MD, USA) is a precision medicine company harnessing the power of molecular diagnostics and bioinformatics to help combat infectious disease. Along with subsidiaries, Curetis GmbH and Ares Genetics GmbH, we are developing and commercializing molecular microbiology solutions helping to guide clinicians with more rapid and actionable information about life threatening infections to improve patient outcomes, and decrease the spread of infections caused by multidrug-resistant microorganisms, or MDROs. OpGens product portfolio includes Unyvero, Acuitas AMR Gene Panel and Acuitas Lighthouse, and the ARES Technology Platform including ARESdb, using NGS technology and AI-powered bioinformatics solutions for antibiotic response prediction.

For more information, please visit http://www.opgen.com.

Forward-Looking Statements by OpGen

This press release includes statements regarding a validation study of next-generation sequencing based tests provided by OpGens subsidiary, Ares Genetics GmbH. These statements and other statements regarding OpGens future plans and goals constitute "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933 and Section 21E of the Securities Exchange Act of 1934 and are intended to qualify for the safe harbor from liability established by the Private Securities Litigation Reform Act of 1995. Such statements are subject to risks and uncertainties that are often difficult to predict, are beyond our control, and which may cause results to differ materially from expectations. Factors that could cause our results to differ materially from those described include, but are not limited to, our ability to successfully, timely and cost-effectively develop, seek and obtain regulatory clearance for and commercialize our product and services offerings, the rate of adoption of our products and services by hospitals and other healthcare providers, the realization of expected benefits of our business combination transaction with Curetis GmbH, the success of our commercialization efforts, the impact of COVID-19 on the Companys operations, financial results, and commercialization efforts as well as on capital markets and general economic conditions, the effect on our business of existing and new regulatory requirements, and other economic and competitive factors. For a discussion of the most significant risks and uncertainties associated with OpGen's business, please review our filings with the Securities and Exchange Commission. You are cautioned not to place undue reliance on these forward-looking statements, which are based on our expectations as of the date of this press release and speak only as of the date of this press release. We undertake no obligation to publicly update or revise any forward-looking statement, whether as a result of new information, future events or otherwise.

OpGen Contact:Oliver SchachtCEOInvestorRelations@opgen.com

Press Contact:Matthew BretziusFischTank Marketing and PRmatt@fischtankpr.com

Investor Contact:Megan PaulEdison Groupmpaul@edisongroup.com

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OpGen Group Company Ares Genetics Demonstrates Feasibility of CLIA-compliant Next Generation Sequencing Workflow for Identification of Bacterial...

Lynn Parker, M.D., gynecologic oncologist with Norton Cancer Institute, is on a mission. Shes doing whatever she can to spread the word: Theres a lot that can be done to prevent and treat female cancers.

What drives me is we can cure people; we can help people. What drives me every day is to see patients do well, said Dr. Parker, who trained at the world-renowned MD Anderson Cancer Center in Houston, Texas.

Rapid medical advances are improving the odds significantly for ovarian, uterine, cervical, endometrial and other cancers in the reproductive organs. Unfortunately, even some physicians may not know about many of the new treatments, according to Dr. Parker.

We can be very successful, she said. Its just a matter of making sure people are aware of the options they have and that our specialty exists. Its a really exciting time in gynecologic oncology. I dont want people to get misinformation that theres not something that can be done to help them when there is.

To that end, Dr. Parker is on the Communications Committee of the Society of Gynecologic Oncology, an international professional organization.

We try to get the word out, either through social media or websites, Dr. Parker said. To me its not only about getting the word to the patients but to the primary care doctors.

Dr. Parker recalled a patient who was told by her doctor to go home and get her affairs in order because nothing could be done. Dr. Parker saw the patient and started treatment.

She lived another six years. She had six years with her kids that she otherwise would not have had, Dr. Parker said.

As a gynecologic oncologist, Dr. Parker performs surgery and sees patients in the office.

Dr. Parker grew up in a small town in southern Illinois, the daughter of a dentist. Her grandparents lived close by, and she helped care for her grandfather, who had rapidly progressing rheumatoid arthritis.

I loved science. I loved caregiving. That was a way I could make an impact and help people, she said.

Dr. Parker completed a combined six-year undergraduate and medical degree at the University of Missouri-Kansas City before doing her medical residency at the University of Oklahoma, Oklahoma City. She then completed a fellowship in gynecology/oncology at MD Anderson.

Dr. Parker is passionate about keeping up with research and what the latest treatments can do for patients.

I have patients, in the old days, we would say you have nine to 12 months to live. Now I give them a new chemotherapy combination and the tumor goes away. To me thats very exciting, she said.

With more than 100 specialists at locations around Louisville and Southern Indiana, Norton Cancer Institute is the areas leading provider of cancer care.

(502) 629-HOPE (4673)

Other new treatments include immunotherapy, which uses a patients own immune system to fight cancer; PARP inhibitors, which kill cancer cells by stopping them from repairing themselves; and so-called VEGF (vascular endothelial growth factor)

drugs like bevacizumab, which starve tumors by preventing them from forming new blood vessels.

Research also has shown that most cancers that were once thought to arise in the ovary have their origin in the fallopian tubes, according to Dr. Parker. That means cancers potentially can be prevented. For example, if a woman is having a hysterectomy for reasons other than cancer, the fallopian tubes also can be removed.

Genetic testing also is improving, which will help pinpoint which women are most at risk.

Now we can do very significant profile testing and potentially protect women from ever getting cancer, Dr. Parker said. I would love to go out of business for that reason.

Even with an eye on the latest research, Dr. Parker never loses sight of her patients.

My patients are amazing people, Dr. Parker said. Im very proud my patients feel at home when they come see us. So much of that is lost in modern medicine. To me its about making patients feel like theyre part of a team, part of a family.

Cancer is so overwhelming you want to know they can always reach you to talk to you. They can ask us all the questions they want. If I dont know the answer, I will find someone who does.

In medical school, Dr. Parker met her husband, John Parker, M.D., a neuropathologist who teaches medical students and neurosurgery residents at the University of Louisville School of Medicine. Together, they have a teenage daughter. In her free time, Dr. Lynn Parker likes spending time with her family and spending time outdoors.

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Making sure patients, physicians know about the advances in treating female cancers - Norton Healthcare

NEW YORK, Aug. 11, 2020 /PRNewswire/ --

Read the full report: https://www.reportlinker.com/p05949918/?utm_source=PRN

Market Report Coverage - Next Generation Breast Cancer Diagnostic and Screening

Market Segmentation

Product Type - BRCA tests, ER/PR tests, HER2 tests Technology- Real-Time Polymerase Chain Reaction (RT-PCR), Immunohistochemistry (IHC), Fluorescence In-Situ Hybridization (FISH), Next-Generation Sequencing and Others Cancer Subtype - Luminal A, Luminal B, Triple negative/basal like, Human Epidermal Growth Factor (HER2) End User - Hospital associated lab, Cancer Research Institutes, Diagnostic Centers, and Other End Users

Regional Segmentation

North America U.S., Canada Europe Germany, France, Italy, U.K., Spain, and Rest-of-Europe Asia-Pacific China, Japan, India, Singapore, Australia, and Rest-of-Asia-Pacific (RoAPAC) Latin America Brazil, Mexico, and Rest-of-the-Latin America Rest-of-the-World

Growth Drivers

Increasing Prevalence of Breast Cancer, Globally Increase in Adoption of Personalized Medicine for the Screening and Diagnostics of Breast Cancer Growing Focus on Breast Cancer Biomarker for Effective Screening and Prognosis

Market Challenges

Uncertain Reimbursement Policies Pertaining to Breast Cancer Molecular Diagnostics Requirement of High Capital Investment Hindering Expansion Issues Related to Clinical Validity of Biomarker-based Tests

Market Opportunities

Massive Scope for Adoption of Breast Cancer Molecular Diagnostics in Emerging Nations Technological Advancements in the development of Next Generation Breast Cancer Diagnostics Increased Use of Breast Cancer Diagnostics for the Development of Therapeutics Drugs and Comprehensive Treatment Plan

Key Companies Profiled

Abbott Laboratories, F. Hoffmann-La Roche Ltd, Danaher Corporation, Invitae Corporation, Thermo Fisher Scientific Inc., Biocept, Inc., Biotheranostics, Agendia N.V., Lucence Diagnostics Pte Ltd, Agilent Technologies, Inc., Myriad Genetics, Inc, Fulgent Genetics, Centogene N.V., and Ambry Genetics

Key Questions Answered in this Report: What are the major market drivers, challenges, and opportunities in the next generation breast cancer diagnosis and screening market? What is the potential impact of COVID-19 on the breast cancer diagnosis in terms of availability of resources such as physicians, laboratory staff and technological advancements? What are the noticeable drifts across various regional markets amidst the COVID-19 pandemic on the early stage screening of breast cancer? What is the current market demand along with future expected demand trend of Next generation breast cancer diagnostics services for various subtypes.? How the next generation diagnostics have helped genomic tests to become a prominent tool for breast cancer screening rather than an adjunct diagnostic tool? What are the key development strategies which are implemented by the major players in order to sustain in the competitive market? What are the key technologies that have been used by leading players in the market for the development of molecular diagnostic assays for early breast cancer screening and diagnosis?

How each segment of the market is expected to grow during the forecast period from 2020 to 2030 based on:o Technologyo Assay Typeo Breast Cancer Subtypeso Diagnostic Typeo End usero Region: Region includes North America, Europe, Asia-Pacific, Rest-of-the-World (ROW) Who are the leading players with significant offerings to the next generation breast cancer diagnosis and screening market? What is the expected market dominance for each of these leading players? Which companies are anticipated to be highly disruptive in the future and why?

Market OverviewOur healthcare experts have found next generation breast cancer diagnostics and screening market to be one of the most rapidly evolving markets and the global market for next generation breast cancer diagnostics and screening market is predicted to grow at a CAGR of 13.12% over the forecast period of 2020-2030. The market is driven by certain factors, which include the rising incidence of breast cancer patients inciting the development of rapid diagnostic assays, significant innovation resulting in market pull, shift from centralized to decentralized laboratories, and significant external funding for executing R&D exercises.

The market is favoured by the development of genomic-based assays for early diagnosis and prognosis of metastatic and recurrent breast cancers. The gradual increase in the prevalence of breast cancer patients, globally has furthered the breast cancer diagnostics market.

Furthermore, several diagnostic companies are focusing on the development of biomarker-diagnostics with higher sensitivity and low turn-around time to benefit the patients, providing diagnosis at an early stage.

Within the research report, the market is segmented on the basis of product type, application, technology, disease end users, and region. Each of these segments covers the snapshot of the market over the projected years, the inclination of the market revenue, underlying patterns, and trends by using analytics on the primary and secondary data obtained.

Competitive LandscapeThe exponential rise in the application of precision medicine on the global level has created a buzz among companies to invest in the development of rapid diagnostics providing information on genetic mutation and patients good candidate for adjuvant chemotherapy or hormonal therapy. Due to the diverse product portfolio and intense market penetration, Abbott Laboratories has been a pioneer in this field and been a significant competitor in this market.

Several other companies such as F. Hoffman-La Roche Ltd, Myriad Genetics Inc., and Agendia, among others, have launched diagnostics assays for breast cancer, such as Foundation One CDx, EndoPredict, and Mammaprint, among others.

On the basis of region, North America holds the largest share of next generation breast cancer diagnostics and screening market due to improved healthcare infrastructure, rise in per capita income, and availability of state-of-the-art research laboratories and institutions in the region. Apart from this, Asia-Pacific region is anticipated to grow at the fastest CAGR during the forecast period.

Countries Covered North America U.S. Canada Europe Germany U.K. France Italy Spain Rest-of-Europe Asia-Pacific China Japan India Australia Singapore Rest-of-APAC Latin America Brazil Mexico Rest-of-Latin America Rest-of-the-World

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The global market for next generation breast cancer diagnostics and screening market is predicted to grow at a CAGR of 13.12% over the forecast period...

MENLO PARK, Calif.--(BUSINESS WIRE)--Personalis, Inc. (Nasdaq: PSNL) today announced a collaboration with Sarepta Therapeutics (Nasdaq: SRPT), a leader in precision genetic medicine for rare disease. As part of this research collaboration, Sarepta will be working with the Personalis team to characterize immune response to precision genetic therapeutics, utilizing Personalis advanced proprietary analytics.

We are excited to announce this collaboration with Personalis. By bringing together Sareptas expertise in precision genetic medicine and Personalis advanced neoepitope prediction, our goal is to better characterize certain types of immune response to benefit patients with rare disease, said Dr. Tanya Teslovich, Senior Director, Genomics at Sarepta.

We are excited to work with Sarepta to apply our proprietary analytics in the rapidly emerging area of genetic medicine. This collaboration demonstrates the extensibility of our technology platform beyond cancer to additional therapy development areas, said Dr. Richard Chen, CSO at Personalis.

About Personalis, Inc.

Personalis, Inc. is a growing cancer genomics company transforming the development of next-generation therapies by providing more comprehensive molecular data about each patients cancer and immune response. The Personalis ImmunoID NeXT Platform is designed to adapt to the complex and evolving understanding of cancer, providing its biopharmaceutical customers with information on all of the approximately 20,000 human genes, together with the immune system, from a single tissue sample. Personalis also provides genomic information to the VA Million Veterans Program as part of their goal to sequence over a million veteran genomes. The Personalis Clinical Laboratory is GxP aligned as well as CLIA88-certified and CAP-accredited. For more information, please visit http://www.personalis.com and follow Personalis on Twitter (@PersonalisInc).

Forward-Looking Statements

This press release contains or may imply "forward-looking statements" within the meaning of Section 27A of the Securities Act of 1933 and Section 21E of the Securities Exchange Act of 1934. For example, forward-looking statements include statements regarding potential positive outcomes resulting from the collaboration of Personalis and Sarepta, such as the ability of the collaboration to yield novel discoveries. These forward-looking statements are subject to risks and uncertainties, including those discussed in Personalis filings with the Securities and Exchange Commission (SEC), including in the Risk Factors and Managements Discussion and Analysis of Financial Condition and Results of Operations sections of the Companys most recently filed periodic report on Form 10-K and subsequent filings and in the documents incorporated by reference therein. Except as otherwise required by law, Personalis disclaims any intention or obligation to update or revise any forward-looking statements, which speak only as of the date hereof, whether as a result of new information, future events or circumstances or otherwise.

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Personalis Announces Scientific Collaboration with Sarepta Therapeutics on Immune Response to Precision Genetic Therapeutics - Business Wire

BEDFORD, Mass.--(BUSINESS WIRE)--Stoke Therapeutics, Inc., (Nasdaq: STOK), a biotechnology company pioneering a new way to treat the underlying cause of genetic diseases by precisely upregulating protein expression, today announced the appointment of Julie Anne Smith to its Board of Directors. Ms. Smith has also been appointed to the Compensation Committee of the Board of Directors. Ms. Smith will replace Samuel Hall, Ph.D., whose term on the Board of Directors expired.

Julie brings more than two decades of experience in the life sciences industry, with a strong track record of successfully developing and commercializing medicines for rare and inherited diseases. Her expertise in drug development for neurodegenerative diseases will be particularly valued as we advance STK-001 for Dravet syndrome into the clinic later this year, said Edward M. Kaye, M.D., Chief Executive Officer of Stoke Therapeutics. We thank Sam for his many important contributions to Stoke from our inception and as we matured through our successful IPO to become a public company prepared to enter the clinic with STK-001, the first potential medicine developed using our TANGO platform. We welcome Julie to the Board and look forward to her insights and contributions.

This is an exciting time for Stoke as it transitions to a clinical stage company and looks to the future, said Ms. Smith. I am pleased to work with the Board members and the executive leadership team as they advance their work in Dravet and expand the pipeline to help people who are living with severe genetic diseases and realize the potential of the TANGO platform.

Ms. Smith currently serves as President and CEO of ESCAPE Bio, Inc., a biotechnology company developing precisely targeted therapeutics for genetic forms of neurodegenerative disease. She previously served as President and CEO of Nuredis, Inc., a biotechnology company developing small-molecule therapies for nucleotide repeat disorders such as Huntingtons disease. In 2014, Ms. Smith was appointed President and CEO at Raptor Pharmaceuticals, a public biotechnology company with two commercial medicines for orphan diseases, where she served until its acquisition in 2016 (by Horizon Pharmaceuticals, Inc.). Prior to joining Raptor, Ms. Smith served as the Chief Commercial Officer at Enobia Pharmaceuticals (acquired by Alexion Pharmaceuticals, Inc.). Earlier in her career, she held positions of increasing responsibility at Jazz Pharmaceuticals plc, Genzyme, Novazyme and Bristol-Myers Squibb Company.

Ms. Smith previously served on the board of directors of Audentes Therapeutics, Inc., a genetic medicines company, and as a director on the Health and Emerging Companies Section Governing Boards of the Biotechnology Industry Organization (BIO). She currently serves on the board of directors of Exelixis, Inc., a public genomics-based drug discovery company. Ms. Smith holds a B.S. in biological and nutritional sciences from Cornell University.

About Stoke Therapeutics

Stoke Therapeutics (Nasdaq: STOK), is a biotechnology company pioneering a new way to treat the underlying causes of severe genetic diseases by precisely upregulating protein expression to restore target proteins to near normal levels. Stoke aims to develop the first precision medicine platform to target the underlying cause of a broad spectrum of genetic diseases in which the patient has one healthy copy of a gene and one mutated copy that fails to produce a protein essential to health. These diseases, in which loss of approximately 50% of normal protein expression causes disease, are called autosomal dominant haploinsufficiencies. Stoke is headquartered in Bedford, Massachusetts with offices in Cambridge, Massachusetts. For more information, visit https://www.stoketherapeutics.com/ or follow the company on Twitter at @StokeTx.

Cautionary Note Regarding Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995, including, but not limited to: Stokes expectation about timing and execution of anticipated milestones with respect to STK-001, including advancement of STK-001 to the clinical stage, and expansion of the Companys pipeline. Statements including words such as plan, continue, expect, or ongoing and statements in the future tense are forward-looking statements. These forward-looking statements involve risks and uncertainties, as well as assumptions, which, if they do not fully materialize or prove incorrect, could cause our results to differ materially from those expressed or implied by such forward-looking statements. Forward-looking statements are subject to risks and uncertainties that may cause Stokes actual activities or results to differ significantly from those expressed in any forward-looking statement, including risks and uncertainties related to Stokes ability to develop, obtain regulatory approval for and commercialize STK-001 and its future product candidates, the timing and results of preclinical studies and clinical trials, Stokes ability to protect intellectual property; and other risks set forth in our most recent annual or quarterly report and in other reports we have filed with the U.S. Securities and Exchange Commission. These forward-looking statements are based on our current believes and expectations and speak only as of the date of this press release. We do not undertake any obligation to publicly update any forward-looking statements.

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Stoke Therapeutics Appoints Julie Anne Smith to its Board of Directors - Business Wire

CARLSBAD, Calif., June 2, 2020 /PRNewswire/ --Prescient Medical, a subsidiary of Prescient Medicine Holdings, Inc., announced today a research collaborationwith the Harvard Chan Microbiome in Public Health Center (HCMPH Center), a group at Harvard T.H. Chan School of Public Health dedicated to expanding research on the microbiome to improve public health. The aim of the collaboration is tostudy microbial biomarkers to identify the presence of precancerous adenomas and carcinomas in the colon. The initial collaboration will investigate prevalent gut microbial biomarkers for colorectal cancer (CRC) by analyzing known, recent CRC cases across populations with which the HCMPH Center works and applying cutting-edge statistical and bioinformatic techniques for microbiome meta-analysis.

"The ongoing research collaboration will further enhance diagnostic screening for colon cancer," said Keri Donaldson, M.D, chief executive officer at Prescient Medicine. "Offering a non-invasive alternative to colonoscopies that screen for colorectal adenomas and carcinomas could represent a paradigm shift in CRC screening driven by the microbiome. Therefore, research to better understand the microbiome's role in CRC is needed at this time."

Curtis Huttenhower, Ph.D., professor of computational biology at Harvard Chan School and co-director of the HCMPH Center, said, "The mission of the HCMPH Center is to improve population health via microbiome science, and there are few chronic disease conditions as well-positioned to benefit from microbiome screening as colorectal cancer. It is one of the most common causes of cancer deaths, but also one of the most preventable cancers if detected early. It's exciting to embark on this collaboration to advance the latest science and, I hope, eventually deploy our findings to the clinic."

The past decade has seen a dramatic expansion of research on the human microbiome, including investigation into the role of microbes and microbiota in the gastrointestinal track in the origin and development of CRC. The advancements in this field parallel the preceding decade's growth in personalized genetic medicine, with the microbiome offering opportunities for both therapeutic and diagnostic biomarker discovery.

According to the American Cancer Society, colorectal cancer is the third leading cause of cancer-related deaths in both men and in women. The U.S. spends approximately $14 billion each year for the diagnosis and treatment of CRC with costs largely due to delayed detection. There is a lack of non-invasive screening tests that can accurately detect precancerous polyps as effectively as a colonoscopy, the current standard of care. Screening recommendations currently suggest acolonoscopy for average-risk patients starting at age 45 every 10 years and earlier for high-risk patients, but approximately one in three patients are not in compliance with these recommendations.Research indicates that early detection of precancerous adenomas and carcinomas could lead to significantly better patient outcomes.

About Prescient Metabiomics Prescient Metabiomics LLC, a privately held company and subsidiary of Prescient Medicine Holdings, Inc., is an early stage molecular diagnostics company developing in-vitro diagnostics that leverage breakthroughs in next-generation DNA sequencing, computational systems biology, and human microbiome sciences. To learn more, visit http://www.metabiomics.com.

About Prescient Medicine HoldingsPrescient Medicine Holdings, Inc. is a privately held company focused on developing diagnostic tools that advance the precision healthcare movement.Prescient Medicine's mission is to accelerate the development, commercialization and deployment of advanced clinical diagnostics to address the most pressing public health issues in the U.S. Prescient Medicine designs powerful tests and analytic solutions to offer deep predictive insights so doctors and patients have the data they need to make more informed clinical decisions and achieve the best possible patient outcomes. Prescient Medicine technologies include LifeKitPrevent designed to detect colon cancer and precancerous adenomas and LifeKitPredict, an in vitro diagnostic test commercialized in partnership with its subsidiary AutoGenomics, used for the identification of patients who may be at risk for opioid dependency. To learn more, visit http://www.prescientmedicine.com.

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SOURCE Prescient Medicine; Prescient Metabiomics

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Prescient Metabiomics and the Harvard Chan Microbiome in Public Health Center Collaborate to Advance Research in Colon Cancer Screening - BioSpace

Mark Williams The Columbus Dispatch

TuesdayJun2,2020at5:11PM

A Massachusetts-based biopharmaceutical company plans to create 100 jobs as part of an expansion of its Columbus operations.

Sarepta Therapeutics will open an 85,000-square-foot building at 3435 Stelzer Rd. as part of its Gene Therapy Center of Excellence.

The company says it will invest more than $30 million, and that hiring for research, technician and general operations positions will begin immediately.

Employees currently working out of the companys offices in Dublin will move to the new building over time.

Sarepta, based in Cambridge, focuses on gene therapy programs to treat rare diseases.

It has two approved drugs for Duchenne muscular dystrophy and more than 40 treatments in development.

Duchenne slowly steals muscle, making children weaker and weaker as they grow older. Many died by their mid-20s. The disease afflicts mostly boys.

We are confident that gene therapy will revolutionize genetic medicine, and we chose Ohio for our Gene Therapy Center of Excellence because we believe Columbus will become a hub for genetic medicine innovation, the companys president and CEO, Doug Ingram, said in a statement.

mawilliams@dispatch.com

@BizMarkWilliams

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Sarepta to expand Columbus operations, add 100 jobs - The Columbus Dispatch