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Mackenzie Postel’s years of USC excellence earn recognition. Her voice is part of it. – USC News

Posted: July 9, 2020 at 2:48 am

Nothing keeps Mackenzie Postel down. Not even when shes lying in a hospital bed recovering from surgery to fix her wayward kneecap.

Postel with the Fight On spirit post-op.

A while back, I had received an invitation to audition for the show The Voice, she says. While sitting in my hospital bed post-knee surgery, I received an email saying: Dont forget your virtual audition for The Voice is tomorrow! The next day, an amazing Keck Hospital PT and OT were helping me to stand up, climb stairs, get back to basics. I mentioned the email I had received from The Voice to them in passing and, the next thing I knew, they were helping me to get dressed, and I ended up auditioning for the show remotely from my hospital room, in my fashionable leg brace and high fall risk socks!

The close of Postels third year as an MD/PhD candidate at the Keck School of Medicine has been a whirlwind: In late April she received the Rockwell Dennis Hunt Award (an honor given annually to one USC grad student who is an alumnus and who is most representative of the Universitys traditions and objectives). Not long after, Postel (pronounced post-EL) underwent a tibial tubercle osteotomy, cadaver MPFL grafting, and trochleoplasty all performed by Dr. George Hatch at Keck Orthopaedic Surgery to realign her kneecap after a series of dislocations.

Even as an inpatient at Keck Hospital, Mackenzie insisted upon fighting on! and pursuing her love of music, which has been as important a part of her life as a Trojan as her academic work. In fact, she sees music and the instruction at the Keck School of Medicine as inextricably linked, as medicine is both an art and a science.

While we wait for the word on that audition, we talked with her about what shes achievedso far at USC, and what comes next:

Keck School: You received a Bachelor of Science degree in biology at USC, then a Master of Science in Molecular Genetics & Biochemistry. Now youre pursuing both an MD and a PhD in Cancer Biology & Genomics. What area do you want to specialize in?

Mackenzie Postel: Ive always loved research. High school (Marlborough School in L.A.) was where my research interest was sparked shout out to Dr. Elizabeth Ashforth for stoking my interest in research as early as 9th grade, and for serving as a wonderful role model for me as a woman in STEM. I worked in a lab at UCLA where we engineered heart tissue with stem cells. Ive always been a fan of multidisciplinary approaches to problems. So, in college and for my masters degree (both at USC), I had the amazing opportunity to combine biological and archaeological research through the analysis of ancient Egyptian mummy tissue. It was amazing to learn about ancient human health. And now, in USCs MD/PhD program, my research focus is translational genomics and precision medicine for cancer patients. Cancer isnt a one-size-fits-all type of problem every tumor is different, even between two individuals with the same cancer type and Im excited by all of the novel, tailored immunotherapies becoming available to patients. Im particularly grateful to have the opportunity to be involved in addressing cancer disparities and studying cancer in the diverse population of Los Angeles.

KS: How long have you been a student at USC?

Mackenzie: Oh, gosh, lets see. I have been at USC since 2011. Ive just finished the first year of my PhD, so I have many years ahead of me. Looking ahead to my residency, I would like to stay in LA. My dream is to be like Dr. [Donna] Elliott a quadruple Trojan herself! and to wear as many hats as possible. Id love to be a physician, a researcher, a professor, and a dean. I think it would be really cool to give back and be involved in teaching the next generation of medical professionals.

KS: How important is singing and music to you?

Mackenzie: I think music has been a part of my life since I was born! My grandma, Lois Darr, is a concert pianist; she still performs today, at 87 years old. Growing up I was surrounded by music. All of the women in my family are artists screenwriters, painters, musicians. And all of the men are the scientists and the physicians [her father, Dr. Joachim Postel, is a cardiothoracic surgeon at UCLA]. My family always says Im the first to combine both the arts and the sciences. And Ive always thought of music, itself, as form of medicine.

During my first years of medical school at Keck, I had the really amazing opportunity to serve as the president of the acapella club and of Keck Music Society [KMS]. Im eternally grateful to Dr. Pamela Schaff [associate professor and Director of the Keck Schools HEAL Program], who is the faculty leader for both groups, as well as a fantastic pediatrician, author, and double-doctor. KMS puts on concerts featuring med students for Keck patients, which was the most rewarding aspect of that position for me. One of my favorite memories was: I was singing in the LAC+USC pediatric ward, going from room to room because not all of the patients were ambulatory. I was singing a song from Frozen for this little girl. The song is a duet, but I was just singing the part of Anna. And this little girl starts singing the part of the other character, Elsa, with me. I had goosebumps! At the end of the song, the girls mother came up to me and said that her daughter hadnt even spoken for weeks, let alone sang. We were all crying happy tears. It was amazing to me that music could have that kind of transformative effect.

KS: The award you won at this years USC awards convocation is named for Rockwell Dennis Hunt (1868-1966), who was a longtime professor and dean of the graduate school. The ceremony was on Zoom. What was it like?

Mackenzie: I think it was probably USCs first awards ceremony where everyone attended in their PJs, which I think we should do from now on, because it was very comfortable! The award served as a reminder, for me, of how grateful I am to my parents. I wouldnt be where I am today, pursuing the wonderful opportunities I have a chance to pursue, without their support and guidance. I still remember my mom, Debbie, teaching me how to make flashcards, back in kindergarten! I definitely owe it all to my parents, and it was nice to be able to sit in the living room in our PJs together and watch the award ceremony. My cat was also quite pleased to be able to attend.

Winning the award also felt like a culmination of how grateful I am to USC. My time here has been like a dream or a Disney movie! Only at USC could I have studied voice with Rod Gilfry, a world class opera singer [whos an associate professor of vocal arts at the Thornton School of Music]. Only at USC would I be able to study an ancient Egyptian mummy. Only at USC would I be able to explore the intersection of music and medicine. And only at USC would I be able to get my dual degree and be surrounded by world-class physicians and researchers. I just feel so incredibly grateful. Permanently pinching myself!

by Landon Hall

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Mackenzie Postel's years of USC excellence earn recognition. Her voice is part of it. - USC News

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Acer Therapeutics Announces Administration of ACER-001 in a Fasted State Increased Systemic Exposure of Phenylbutyrate in Healthy Volunteer Food…

Posted: July 9, 2020 at 2:48 am

Model suggests ACER-001, Acers taste-masked, immediate release formulation of sodium phenylbutyrate, may offer improved disease management in patients with Urea Cycle Disorders compared to current treatments

Anticipate submitting ACER-001 NDA in H1 2021 assuming successful completion of additional nonclinical work and long-term stability data, and subject to additional capital

NEWTON, Mass., July 08, 2020 (GLOBE NEWSWIRE) -- Acer Therapeutics Inc. (Nasdaq: ACER), a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs, today announced data from a food effect study in healthy volunteers showing that administration of ACER-001 in a fasted state increased systemic exposure of phenylbutyrate (PBA), phenylacetate (PAA) and phenylacetylglutamine (PAGN) levels compared to fed state, and therefore based on modeling data may improve disease management in patients with urea cycle disorders (UCDs) when compared to currently approved treatments requiring administration with food.

Results from Part B of the ACER-001 bioequivalence (BE) trial in healthy volunteers (n=36) announced in February 2020 showed that ACER-001 was bioequivalent to BUPHENYL (sodium phenylbutyrate) and were within the parameters recommended by the FDAs Guidance for Industry, Statistical Approaches to Establishing Bioequivalence. The BE trial included a food effect study, which evaluated the pharmacokinetics (PK) of sodium phenylbutyrate (NaPBA) showing that administration of ACER-001 in a fasted state achieved more than two times the maximum concentration (Cmax) of PBA compared to administration of the same dose of ACER-001 in a fed state. These results are consistent with previously published data by Nakano, et al1 that evaluated PK of NaPBA in patients with progressive familial intrahepatic cholestasis, also demonstrating that administration of NaPBA in a fasted state significantly increased PBA peak plasma concentration compared to administration of NaPBA in a fed state.

Currently approved therapies for UCDs, including BUPHENYL2 and RAVICTI3 (glycerol phenylbutyrate), are required to be administered with food. BUPHENYL is required to be administered in a fed state due to its aversive odor and taste, with side effects including nausea, vomiting and headaches, which often lead to discontinuation of treatment.4 Additionally, prescribing information states that BUPHENYL food effect is unknown. RAVICTI PK and pharmacodynamic (PD) properties were determined to be indistinguishable in fed or fasted states.5 ACER-001 is uniquely formulated with its multi-particulate, taste-masked coating to allow for administration in a fasted state, while still allowing for rapid systemic release.

Based on the results from the food effect study within the ACER-001 BE trial, Acer commissioned Rosa & Co. LLC to create a PhysioPD PK model to evaluate the potential food effect on exposure, tolerability and efficacy of ACER-001 in UCDs patients. Results from this in silico model suggest that administration of ACER-001 in a fasted state required approximately 30% less PBA to achieve comparable therapeutic benefit in a fed state. In addition, the model predicted that administration of ACER-001 in a fasted state compared to administration of BUPHENYL or RAVICTI (same amounts of PBA) in their required fed states is expected to result in higher peak blood PBA, PAA and PAGN concentrations, predicting a 43% increase in urinary PAGN levels (a negative correlation between blood ammonia area under the curve and 24-hour urinary PAGN amount has been demonstrated6).

For nearly a quarter century, phenylbutyrate has been prescribed to UCD patients with food while its effect on phenylbutyrate absorption was never determined. The results of the ACER-001 food effect study, published literature and in silico modeling suggest that ACER-001 administered in a fasted state, and likely just 10 minutes prior to meals, could offer UCD patients a safe and better disease management option compared to currently approved products that are required to be taken with food, said Chris Schelling, CEO and Founder of Acer. We formulated ACER-001 to specifically improve palatability and tolerability, and we expect that this formulation should allow ACER-001 to be successfully administered without food. We look forward to discussing these findings with the FDA later in the third quarter. Schelling continued Interestingly, the increased exposure seen under fasted conditions may have benefit in other patient populations we intend to study, such as Maple Syrup Urine Disease (MSUD), where the Cmax of phenylbutyrate is the active moiety.

About UCDsUCDs are a group of disorders caused by genetic mutations that result in a deficiency in one of the six enzymes that catalyze the urea cycle, which can lead to an excess accumulation of ammonia in the bloodstream, a condition known as hyperammonemia. Acute hyperammonemia can cause lethargy, somnolence, coma, and multi-organ failure, while chronic hyperammonemia can lead to headaches, confusion, lethargy, failure to thrive, behavioral changes, and learning and cognitive deficits. Common symptoms of both acute and chronic hyperammonemia also include seizures and psychiatric symptoms.7,8

The current treatment of UCDs consists of dietary management to limit ammonia production in conjunction with medications that provide alternative pathways for the removal of ammonia from the bloodstream. Some patients may also require individual branched-chain amino acid supplementation.

Current medical treatments for UCDs include nitrogen scavengers RAVICTI and BUPHENYL in which the active pharmaceutical ingredients are glycerol phenylbutyrate (GPBA) and sodium phenylbutyrate (NaPBA), respectively. According to a 2016 study by Shchelochkov et al., published in Molecular Genetics and Metabolism Reports, while nitrogen scavenging medications can be effective in helping to manage ammonia levels in some patients with UCDs, non-compliance with treatment is common. Reasons given for non-compliance include the unpleasant taste associated with available medications, the frequency with which medication must be taken, the number of pills, and the high cost of the medication.9

About ACER-001ACER-001 is a taste-masked, immediate-release proprietary formulation of sodium phenylbutyrate developed by Acer using a microencapsulation process. ACER-001 is being developed for the treatment of various inborn errors of metabolism, including UCDs and Maple Syrup Urine Disease (MSUD). ACER-001 microparticles consist of a core center, a layer of active drug, and a taste-masking coating that quickly dissolves in the stomach, allowing taste to be neutralized while still allowing for rapid systemic release. This taste-masked formulation may result in better patient tolerability allowing for administration in a fasted state, and likely prior to a meal. Acer has been granted orphan drug designation by the FDA for the MSUD indication. ACER-001 is under clinical investigation and its safety and efficacy have not been established. There is no guarantee that this product will receive FDA approval or become commercially available for the uses being investigated.

About Acer Therapeutics Inc.Acer is a pharmaceutical company focused on the acquisition, development and commercialization of therapies for serious rare and life-threatening diseases with significant unmet medical needs. Acers pipeline includes four clinical-stage candidates: emetine hydrochloride for the treatment of patients with COVID-19; EDSIVO (celiprolol) for the treatment of vascular Ehlers-Danlos syndrome (vEDS) in patients with a confirmed type III collagen (COL3A1) mutation; ACER-001 (a taste-masked, immediate release formulation of sodium phenylbutyrate) for the treatment of various inborn errors of metabolism, including urea cycle disorders (UCDs) and Maple Syrup Urine Disease (MSUD); and osanetant for the treatment of induced Vasomotor Symptoms (iVMS) where Hormone Replacement Therapy (HRT) is likely contraindicated. Each of Acers product candidates is believed to present a comparatively de-risked profile, having one or more of a favorable safety profile, clinical proof-of-concept data, mechanistic differentiation and/or accelerated paths for development through specific programs and procedures established by the FDA. For more information, visit http://www.acertx.com.

References

Forward-Looking StatementsThis press release contains forward-looking statements that involve substantial risks and uncertainties for purposes of the safe harbor provided by the Private Securities Litigation Reform Act of 1995. All statements, other than statements of historical facts, included in this press release regarding strategy, future operations, timelines, future financial position, future revenues, projected expenses, regulatory submissions, actions or approvals, cash position, liquidity, prospects, plans and objectives of management are forward-looking statements. Examples of such statements include, but are not limited to, statements relating to the potential for our product candidates to safely and effectively treat diseases and to be approved for marketing; the commercial or market opportunity of any of our product candidates in any target indication and any territory; our ability to secure the additional capital necessary to fund the ACER-001 program; the adequacy of our capital to support our future operations and our ability to successfully initiate and complete clinical trials and regulatory submissions; the ability to protect our intellectual property rights; our strategy and business focus; and the development, expected timeline and commercial potential of any of our product candidates. We may not actually achieve the plans, carry out the intentions or meet the expectations or projections disclosed in the forward-looking statements and you should not place undue reliance on these forward-looking statements. Such statements are based on managements current expectations and involve risks and uncertainties. Actual results and performance could differ materially from those projected in the forward-looking statements as a result of many factors, including, without limitation, risks and uncertainties associated with the ability to project future cash utilization and reserves needed for contingent future liabilities and business operations, the availability of sufficient resources to meet our business objectives and operational requirements, the fact that the results of earlier studies and trials may not be predictive of future clinical trial results, the protection and market exclusivity provided by our intellectual property, the substantial costs and diversion of managements attention and resources which could result from pending securities litigation, risks related to the drug development and the regulatory approval process, including the timing and requirements of regulatory actions, and the impact of competitive products and technological changes. We disclaim any intent or obligation to update these forward-looking statements to reflect events or circumstances that exist after the date on which they were made. You should review additional disclosures we make in our filings with the Securities and Exchange Commission, including our Quarterly Reports on Form 10-Q and our Annual Report on Form 10-K. You may access these documents for no charge at http://www.sec.gov.

Investor Contact:Hans VitzthumLifeSci AdvisorsPh: 617-430-7578hans@lifesciadvisors.com

Jim DeNikeAcer Therapeutics Inc.Ph: 844-902-6100jdenike@acertx.com

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Pan-Cancer Consortium Moves to Clarify and Promote Consistent Use of Common Terms for Biomarker and Germline Genetic Testing – BioSpace

Posted: July 9, 2020 at 2:48 am

WASHINGTON, July 7, 2020 /PRNewswire/ --A LUNGevity Foundation-led consortium of 41 leading patient advocacy organizations, professional societies, and industry partners has published a white paper detailing recommendations for the use of testing terminology in precision medicine for patient education throughout the cancer community. Use of consistent language will significantly improve patient awareness and understanding of potentially lifesaving testing options available for both new cancer diagnoses and progression or recurrence of disease.

Research shows that despite widespread acceptance of the importance of testing, actual testing rates lag far behind best-practice recommendations for both biomarker testing for somatic (acquired) mutations and other biomarkers, and for germline genetic testing for identifying germline (inherited) mutations (also known as variants). Analysis by The Consistent Testing Terminology Working Group (Working Group) indicates that language disparity is a primary obstacle to patient communication with providers about testing for their specific cancer type. Further, development of consistent language can increase patient understanding and communication, facilitate shared decision making, support value-based care, and assure concordance in policy development.

The Working Group is a consortium of 20 cancer patient advocacy groups representing solid tumor and hematologic malignancies, three professional societies, and 18 pharmaceutical and diagnostic companies and testing laboratories. Over the course of many years, multiple activities, led by numerous individual patient advocacy organizations and professional societies, have developed the groundwork for this effort. The Working Group has launched a multi-faceted dissemination and communications effort to ensure that its recommendations and supporting materials are widely available among all key stakeholders within the cancer ecosystem, including providers, patient advocacy organizations, guidelines agencies, payers, and policymakers.

In developing its recommendations, the Working Group, first convened in 2019 by LUNGevity Foundation, identified 33 terms related to biomarker, genetic, and genomic testing that were being used in patient education and clinical care within the different cancer communities. In many cases, multiple terms were used to describe the same test. Various testing modalities, the source of testing samples, and the multiplicity of gene mutations currently identifiable by testing were contributing factors in this often-confusing overlap.

In the final analysis, three umbrella descriptor terms emerged as recommendations from the Working Group's milestone exploration: "Biomarker testing"was selected as the preferred term for tests that identify characteristics, targetable findings, or other test results originating from malignant tissue and blood; "genetic testing for an inherited mutation" and "genetic testing for inherited cancer risk" were selected as consensus terms for tests used to identify germline (inherited) mutations.

"Far too many patients across all cancer types are still missing out on essential tests for biomarkers and inherited mutations indicating cancer risk," said Michelle Shiller, DO, AP/CP, MGP, Co-Medical Director of Genetics at Baylor Sammons Cancer Center and Staff Pathologist at Baylor University Medical Center. "With rates of biomarker testing and genetic testing for an inherited mutation at sub-optimal levels for numerous patient populations, patients are not benefiting from biomarker-directed care or not learning about their inherited cancer risk. Confusion around testing terms is a driving factor in this undertesting and ultimately has a detrimental impact on patient care."

Adds Nikki Martin, Director of Precision Medicine Initiatives at LUNGevity Foundation, "When someone is diagnosed with cancer, they're swept into a whirlwind of bewildering words and complex, pressing decisions. Our Working Group's goal is to help calm that storm of confusion with clear and consistent language that facilitates communication and medical decision-making. A unified voice and message from providers, industry, and the patient advocacy community about testing is absolutely vital to optimal cancer care."

An abstract on the Working Group's recommendations was published in May 2020 as part of the American Society of Clinical Oncology (ASCO) Annual Meeting Virtual Library.

The White Paper can be viewed in its entirety atwww.CommonCancerTestingTerminology.org.

Working Groupparticipating organizations include:

Patient Advocacy: CancerCare; Cancer Support Community;The CholangiocarcinomaFoundation;Clearity Foundation; Colorectal Cancer Alliance; Fight CRC; FORCE(Facing Our Risk of Cancer Empowered); International Cancer Advocacy Network; Leukemia & Lymphoma Society; The Life Raft Group; Lymphoma Research Foundation; Living Beyond Breast Cancer; Lung Cancer Action Network (LungCan); LUNGevity Foundation; National Lung Cancer Roundtable(American Cancer Society); PanCAN; Personalized Medicine Coalition; Prostate Cancer Foundation; Ovarian Cancer Research Alliance (OCRA); Sharsheret(The Jewish Breast & Ovarian Cancer Community);and Susan G. Komen.

Professional Societies: Association of Community Cancer Centers(ACCC);Association for Molecular Pathology(AMP); and National Society of Genetic Counselors(NSGC).

Industry Partners: Abbvie; Amgen;AstraZeneca; Blueprint Medicines; Boehringer Ingelheim; Bristol-Myers Squibb; Caris Life Sciences; Eli Lilly and Company; Foundation Medicine; Genentech;GlaxoSmithKline (GSK); Novartis; Myriad Women's Health; NeoGenomics; Pfizer; Personal Genome Diagnostics (PGDx); andThermo Fisher Scientific.

About LUNGevity Foundation

LUNGevity Foundation is the nation's leading lung cancer organization focused on improving outcomes for people with lung cancer through research, education, policy initiatives, and support and engagement for patients, survivors, and caregivers. LUNGevity seeks to make an immediate impact on quality of life and survivorship for everyone touched by the diseasewhile promoting health equity by addressing disparities throughout the care continuum. LUNGevity works tirelessly to advance research into early detection and more effective treatments, provide information and educational tools to empower patients and their caregivers, promote impactful public policy initiatives, and amplify the patient voice through research and engagement. The organization provides an active community for patients and survivorsand those who help them live better and longer lives.

Comprehensive resources include a medically vetted and patient-centric website, a toll-free HELPLine for support, the International Lung Cancer Survivorship Conference, and an easy-to-use Clinical Trial Finder, among other tools. All of these programs are to achieve our visiona world where no one dies of lung cancer. LUNGevity Foundation is proud to be a four-star Charity Navigator organization.

About Lung Cancer in the US

Please visit http://www.LUNGevity.orgto learn more.

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Myriad Announces New Studies Validating the Ability of Myriad’s riskScore Test to Modify Breast Cancer Risk Prediction | 2020-07-07 | Press Releases -…

Posted: July 9, 2020 at 2:48 am

SALT LAKE CITY, July 07, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, announced today two recent publications validating the polygenic risk score (PRS) component of Myriad’s breast cancer risk stratification tool riskScore®. The publications clinically validate both the ability of the PRS component of riskScore to predict breast cancer risk in asymptomatic women and modify risk estimations for patients identified with pathogenic mutations.

Historically we’ve considered breast cancer risk most significant for women diagnosed with pathogenic mutations in hereditary cancer genes. These studies demonstrate clearly that other genetic factors evaluated through Myriad’s riskScore test can dramatically alter breast cancer risk both independent of, and in combination with, gene mutations,” said Nicole Lambert, president of Myriad International, Oncology and Women’s Health. This information can dramatically change patient clinical management and Myriad is currently working diligently to provide access to this important information for all women.”

The first study published in JCO Precision Oncology described the PRS component of riskScore in over 150,000 women. It showed that independent of other hereditary breast cancer gene mutations (e.g., BRCA1), Myriad’s polygenic risk score can add great value and precision to breast cancer risk estimates. The PRS was highly associated with breast cancer risk with an odds ratio of 1.47 (95% confidence interval 1.45 to 1.49) per unit standard deviation in the PRS. This translated to women in the top PRS percentile having a three-fold higher risk of breast cancer than an average risk patient.

The second study published in the Journal of the American Medical AssociationNetwork Open demonstrates the ability of Myriad’s polygenic risk score to improve breast cancer risk stratification in women diagnosed with pathogenic mutations in common breast cancer genes. The study evaluated over 150,000 patients and approximately 10,000 patients who were carriers of pathogenic mutations in the BRCA1, BRCA2, CHEK2, ATM and PALB2 genes who were tested at Myriad. The study demonstrated that patients with high penetrant genes such as BRCA1 and BRCA2 did not warrant changes in clinical management; however, breast cancer risks in patients with moderate penetrant genes such as CHEK2, ATM, and PALB2 could vary significantly, warranting different clinical management considerations. For example, patients with a PALB2 mutation historically have been assessed to have an approximately 50 percent lifetime risk for breast cancer. However, after incorporating the data from Myriad’s 86 single nucleotide polymporphism (SNP) riskScore test, patient risks varied between 26 percent to 79 percent (see Graph 1 below).

To view Graph 1: PRS Significantly Modifies Lifetime Breast Cancer Risk in Mutation Carriers please visit the following link: https://www.globenewswire.com/NewsRoom/AttachmentNg/11ac3a62-dd7e-417a-9f08-a3a3110e01db

These are some of the largest polygenic risk score studies ever published. Patient medical management can vary dramatically depending on where patients with and without pathogenic mutations fall within the risk spectrum,” said Thomas P. Slavin M.D., senior vice president for Medical Affairs in Oncology at Myriad Genetic Laboratories. This information will help empower patients and clinicians to make more informed decisions based upon the most precise breast cancer risk estimates availiable.”

About riskScore® riskScore is a new clinically validated personalized medicine tool that enhances Myriad’s myRisk® Hereditary Cancer test. riskScore helps to further predict a women’s lifetime risk of developing breast cancer using clinical risk factors and genetic-markers throughout the genome. The test incorporates data from more than 80 single nucleotide polymorphisms identified through 20 years of genome wide association studies in breast cancer and was prospectively validated in our laboratory to predict breast cancer risk in women of European descent. This data is then combined with a best-in-class family and personal history algorithm, the Tyrer-Cuzick model, to provide every patient with individualized breast cancer risk.

About Myriad Genetics Myriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on three strategic imperatives: transitioning and expanding its hereditary cancer testing markets, diversifying its product portfolio through the introduction of new products and increasing the revenue contribution from international markets. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, riskScore and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor Statement This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to providing access to this important information for all women; and the Company’s strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers’ reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Int’l, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

Graph 1

PRS Significantly Modifies Lifetime Breast Cancer Risk in Mutation Carriers

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Global Hereditary Genetic Testing Market: Focus on Product, Sample, Technology, Genetic Testing Type, Application Area, Country Data (16 Countries),…

Posted: July 9, 2020 at 2:48 am

New York, July 08, 2020 (GLOBE NEWSWIRE) -- Reportlinker.com announces the release of the report "Global Hereditary Genetic Testing Market: Focus on Product, Sample, Technology, Genetic Testing Type, Application Area, Country Data (16 Countries), and Competitive Landscape - Analysis and Forecast, 2020-2030" - https://www.reportlinker.com/p05930381/?utm_source=GNW

Product Type:Kits, Consumables, and Services Sample Type: Tumor Tissue, Blood, Saliva, Bone Marrow Technology: Next Generation Sequencing, Polymerase Chain Reaction,Immunohistochemistry, In-situ Hybridization, Microarray Techniques Oncology Genetic Testing: Breast, Colorectal,Prostate, Lung, Melanoma Cardiology Genetic Testing: Cardiomyopathy,Aortopathy, Arrythmia Neurology Genetic Testing: Epilepsy, Neurodegenerative Disorders, Neuromuscular Disorders Other Genetic Testing: Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing Application Area: Academia and Research Centers, Clinical Diagnostics, Drug Discovery, Monitoring and Screening

Regional Segmentation North America U.S., Canada Europe Germany, France, Italy, U.K., Spain, Russia, Netherlands Asia-Pacific Japan, China, India, Australia, Singapore Latin America Brazil, Mexico Rest-of-the-World Kingdom of Saudi Arabia (K.S.A.), U.A.E., Palestine, Algeria

Cross Segmentation North America Genetic Testing Type (Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing Europe Genetic Testing Type (Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing Asia-Pacific - Genetic Testing Type (Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing Latin America Genetic Testing Type (Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing Rest-of-the-World Genetic Testing Type (Oncology Genetic Testing, Cardiology Genetic Testing, Neurology Genetic Testing, Newborn Screening, NIPT, Rare Disease Testing, Direct to Consumer Testing

Growth Drivers Rising Prevalence of Genetic Disorders Increasing Prevalence of Various Types of Cancer, Globally Increasing Research Funding in the Field of Genomics

Market Challenges Expensive Sequencing Procedures and Their Applications in Medical Treatments High Capital Requirement Hampering the Expansion of Global Reach Stringent Regulatory Standards

Market Opportunities Technological Advancements for Exome Sequencing Rise of Direct-to-Consumer (DTC) Testing Services Massive Scope for Adoption of NGS-Based in Emerging Nations

Key Companies ProfiledAgilent Technologies, Inc., Ambry Genetics, Beijing Genomics Institute (BGI), CENTOGENE AG, Eurofins Scientific SE, F. Hoffmann-La Roche Ltd, Inc. Illumina, Inc. , Laboratory Corporation of America Holdings, Myriad Genetics, Inc., PerkinElmer, Inc., Quest Diagnostics Incorporated, Thermo Fisher Scientific Inc.

Key Questions Answered in this Report: What are the possible long-term and short-term impacts of hereditary genetic testing on the human health continuum? What are the major market drivers, challenges, and opportunities in the hereditary genetic testing? What are the key development strategies which are being implemented by the major players in order to sustain in the competitive market? What are the key regulatory implications in the developed and developing regions for the global hereditary genetic testing market? How are service-based companies impacting the growth of the global hereditary genetic testing industry and further shaping up future trends? How each segment of the market is expected to grow during the forecast period from 2020 to 2030? Who are the leading players with significant offerings to the global hereditary genetic testing 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? What are the needs that are yet to be met by the global hereditary genetic testing market with respect to the application area? What are the dynamics of various application areas and countries are impacting the global hereditary genetic testing market? What are the new market opportunities of various technologies influencing the growth of the global hereditary genetic testing market?

Market OverviewThe hereditary genetic testing has grown significantly since the technology was first commercialized, but it is important to quantify that growth and describe future trends.The genome testing industry is proliferating, and its growth is expected to continue at its torrid pace.

However, there are significant challenges that may dampen future growth if not addressed.

Our healthcare experts have found hereditary genetic testing to be one of the most rapidly evolving technologies, and the global market for hereditary genetic testing is predicted to grow at a CAGR of 13.59% over the forecast period of 2020-2030.

The unmet clinical needs for better tools to predict, diagnose, treat, and monitor disease are acting as significant factors driving the growth of sequencing industry. Other factors driving the growth include the increased understanding of the molecular basis of disease, patient demand, industry investment, and regulations that allow marketing of tests without FDA approval.

Despite rapid advanced sequencing industry growth, there are several key issues that are needed to be addressed to facilitate future growth.The relatively high total costs of delivering sequencing test results compared with other technology platforms, and limited coverage by payers, are the key challenges to the growth of this industry.

Whole genome and exome sequencing remain relatively costly requiring initial equipment investment, specialized workforce requirements, and time-intensive variant interpretation.

Within the research report, the market is segmented on the basis of oncology genetic testing, cardiology genetic testing, neurology genetic testing, product, sample, application area, 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 next generation sequencing on the global level has created a buzz among companies to invest in the products and services of whole genome and exome sequencing. Due to the diverse product portfolio and intense market penetration, whole genome and exome has been a pioneer in this field and been a significant competitor in this market.

On the basis of region, North America holds the largest share, due to improved healthcare infrastructure, rise in per capita income, and improvised reimbursement policies in the region. Apart from this, Latin America and the Asia-Pacific region are anticipated to grow at the fastest CAGR during the forecast period.

Countries Covered North America U.S. Canada Europe Germany France Italy U.K. Spain Russia Netherlands 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 (RoW)Read the full report: https://www.reportlinker.com/p05930381/?utm_source=GNW

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Scores forecast effects of mutations in autism gene – Spectrum

Posted: July 9, 2020 at 2:48 am

Mutation rating: Scores may help researchers identify changes in the gene PTEN most likely to play a role in autism.

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A new analysis links individual mutations in a gene called PTEN to a persons odds of having autism, cancer or other conditions1. The findings may help clinicians and researchers predict the effects of various mutations in the gene.

PTEN controls cell growth and regulates the strength of connections between neurons. Mutations in the gene are associated with a variety of conditions, including autism, macrocephaly (enlarged head size), benign tumors and several types of cancer. It is still unclear how different mutations cause such varied effects.

Scientists cannot easily predict the consequences of a PTEN mutation based on its type whether it involves a single amino acid change or a larger interruption to the gene, for example or its impact on the protein the gene encodes. Researchers have developed methods to examine the molecular effects of PTEN mutations within cells in a dish, but these approaches do not link mutations to specific conditions in people.

In the new analysis, the researchers probed the effects of 7,657 PTEN mutations, representing all possible changes to each amino acid in the genes sequence. They built on the findings from a previous study in which they used yeast cells to calculate a fitness score for 7,244 PTEN mutations2. They combined this dataset with another in which researchers had given an abundance score to 4,112 PTEN mutations based on how those mutations affect protein levels in human cells in a dish3.

The team used machine learning on the combined dataset to calculate abundance and fitness scores for mutations that lacked them. They then compared these scores with data they gathered from 421 people with PTEN mutations 165 controls and 256 people with a PTEN-related condition, such as autism, developmental delay, intellectual disability, macrocephaly, or benign or malignant tumors.

People with the largest head size tend to have mutations with the lowest fitness and abundance scores, the researchers reported in June in the American Journal of Human Genetics. Similarly, low scores track with having PTEN-related conditions that are severe or appear at a young age.

By comparing mutations in individuals with PTEN-linked traits and those in controls, the researchers also found that fitness scores can predict whether a mutation is likely to lead to a PTEN-related condition.

Together, these findings suggest that abundance and fitness scores may help predict the consequences of PTEN mutations, the researchers say.

The team also split single amino acid changes into three classes based on the severity of their effects on protein function and abundance.

The most severe mutations are linked to a higher likelihood of cancer diagnosis by age 35 compared with the least severe mutations, the researchers found. Greater severity also tracks with an increased likelihood of tumor-like growths.

However, the severity of the variants effects is not tied to a persons likelihood of having autism or developmental delay. This suggests that even a small decrease in PTEN activity may be enough to significantly increase the odds of having a neurodevelopmental condition, the researchers say.

The analysis may help tease apart PTEN mutations different effects, the researchers say. It may also help researchers identify the mutations most likely to play a role in autism and prioritize them for further research.

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Myriad Announces Partnership with OptraHEALTH to Deliver "Gene(TM)" a New AI Based Information Tool for Hereditary Cancer Patients |…

Posted: July 9, 2020 at 2:48 am

SALT LAKE CITY, July 06, 2020 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (NASDAQ: MYGN), a leader in molecular diagnostics and precision medicine, today announced a new collaboration with OptraHEALTH® to implement a cognitive ChatBOT named Gene to provide genetic and financial assistance information to prospective patients. Gene is an AI-powered, HIPAA-compliant knowledge platform for genetic health with BOT interfaces and can answer over 500,000 health related questions pertaining to hereditary cancer. Gene interfaces with Myriad’s market leading online hereditary cancer quiz, which is now taken by approximately one million people per year.

We are excited to offer this innovative new tool for physicians and patients to provide best-in-class pre-test education solutions that we can supplement with live sessions when necessary,” said Nicole Lambert, president of Myriad International, Oncology and Women’s Health. Myriad is highly focused on making the screening and testing process as streamlined as possible for healthcare providers and the implementation of this new technology will give their patients access to unparalleled online genetic education and support tools. This is especially important in the current environment with COVID-19 where patients may not be returning to the clinic setting and pre-test education can be particularly helpful as they work remotely with the healthcare provider to determine if testing is right for them.”

Gene will interactively engage individuals online, providing them with education about hereditary cancer prior to taking an online assessment to determine if they may be a candidate for genetic testing. For those who complete the preliminary assessment and meet criteria for further evaluation, Gene will automate a pre-test process that sends an educational link that displays interactive multimedia content and gives the option to start a live conversation with a patient educator, who is a certified genetic counselor. Gene can also assist in finding a healthcare provider who can help a patient make an informed, definitive decision whether testing is appropriate and then order testing if so. Myriad plans on launching the Gene chatbot for its Foresight® and Prequel prenatal tests and for companion diagnostic testing in oncology later this calendar year.

About OptraHEALTH: OptraHEALTH is focused on improving outcomes for consumers and leading Life Sciences and Healthcare organizations by utilizing a next-generation Artificial Intelligence Platform. OptraHEALTH’s flagship product GeneFAX is an AI-powered knowledge platform for genetic health and is available as a web plugin or mobile application.

About Myriad Genetics Myriad Genetics Inc., is a leading personalized medicine company dedicated to being a trusted advisor transforming patient lives worldwide with pioneering molecular diagnostics. Myriad discovers and commercializes molecular diagnostic tests that: determine the risk of developing disease, accurately diagnose disease, assess the risk of disease progression, and guide treatment decisions across six major medical specialties where molecular diagnostics can significantly improve patient care and lower healthcare costs. Myriad is focused on three strategic imperatives: transitioning and expanding its hereditary cancer testing markets, diversifying its product portfolio through the introduction of new products and increasing the revenue contribution from international markets. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BART, BRACAnalysis, Colaris, Colaris AP, myPath, myRisk, Myriad myRisk, myRisk Hereditary Cancer, myChoice, myPlan, BRACAnalysis CDx, Tumor BRACAnalysis CDx, myChoice CDx, Vectra, Prequel, Foresight, GeneSight, Prolaris and riskScore are trademarks or registered trademarks of Myriad Genetics, Inc. or its wholly owned subsidiaries in the United States and foreign countries. MYGN-F, MYGN-G.

Safe Harbor Statement This press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995, including statements related to implementation of this new technology giving patients access to unparalleled online genetic education and support tools; plans to launch the Gene chatbot for its ForeSight® and Prequel prenatal tests and for hereditary cancer testing in oncology later this calendar year; details of the functionality of the Gene chatbot; and the Company's strategic directives under the caption "About Myriad Genetics." These "forward-looking statements" are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: uncertainties associated with COVID-19, including its possible effects on our operations and the demand for our products and services; our ability to efficiently and flexibly manage our business amid uncertainties related to COVID-19; the risk that sales and profit margins of our molecular diagnostic tests and pharmaceutical and clinical services may decline; risks related to our ability to transition from our existing product portfolio to our new tests, including unexpected costs and delays; risks related to decisions or changes in governmental or private insurers’ reimbursement levels for our tests or our ability to obtain reimbursement for our new tests at comparable levels to our existing tests; risks related to increased competition and the development of new competing tests and services; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and pharmaceutical and clinical services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and pharmaceutical and clinical services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and pharmaceutical and clinical services and any future tests and services are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with operating our laboratory testing facilities and our healthcare clinic; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of the healthcare system or healthcare payment systems; risks related to our ability to obtain new corporate collaborations or licenses and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we license or acquire; risks related to our projections about our business, results of operations and financial condition; risks related to the potential market opportunity for our products and services; the risk that we or our licensors may be unable to protect or that third parties will infringe the proprietary technologies underlying our tests; the risk of patent-infringement claims or challenges to the validity of our patents or other intellectual property; risks related to changes in intellectual property laws covering our molecular diagnostic tests and pharmaceutical and clinical services and patents or enforcement in the United States and foreign countries, such as the Supreme Court decisions in Mayo Collab. Servs. v. Prometheus Labs., Inc., 566 U.S. 66 (2012), Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013), and Alice Corp. v. CLS Bank Int’l, 573 U.S. 208 (2014); risks of new, changing and competitive technologies and regulations in the United States and internationally; the risk that we may be unable to comply with financial operating covenants under our credit or lending agreements; the risk that we will be unable to pay, when due, amounts due under our credit or lending agreements; and other factors discussed under the heading "Risk Factors" contained in Item 1A of our most recent Annual Report on Form 10-K for the fiscal year ended June 30, 2019, which has been filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Fine-tuning brain activity reverses memory problems in mice with autism mutation – Spectrum

Posted: July 9, 2020 at 2:48 am

Social circuitry: Mice with an autism-linked mutation have better social memory after treatment that calms a related neural circuit.

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Dampening overactive brain circuits alleviates social and spatial memory problems in a mouse model of 22q11.2 deletion syndrome, according to a new study1. The findings hint at the possibility of novel treatments for some difficulties associated with the syndrome.

Deletions of DNA in a chromosomal region known as 22q11.2 often cause intellectual disability or other cognitive difficulties, as well as psychiatric conditions such as schizophrenia. About 16 percent of people with the deletion also have autism2.

The type and severity of traits vary from person to person, in part because the deletion can span roughly 20 to 50 genes. That range makes it difficult to design targeted therapies. And many people with deletions in 22q11.2 are prone to drug-related side effects, such as seizures.

Side effects with drug treatment is one of the hardest parts of dealing with mental illness, says Julia Kahn, a postdoctoral researcher at the Childrens Hospital of Philadelphia in Pennsylvania, who worked on the study. Being able to circumvent that in a very directed manner would be really life-changing for a lot of people.

The study identifies the neural circuits responsible for select behaviors in model mice and shows that manipulating those circuits could offer a new treatment strategy.

It suggests that therapies can be symptom specific, says lead investigator Douglas Coulter, professor of pediatrics and neuroscience at the University of Pennsylvania in Philadelphia.

Coulter and his colleagues manipulated circuits in two regions of the hippocampus in 22q11.2 model mice: the ventral region, which governs social memory, and the dorsal region, involved in spatial memory. They focused on the hippocampus because it is important to social cognition in both mice and people, and previous studies have shown it is unusually small in people with 22q11.2 deletions3.

Before the manipulation, mice missing 22q11.2 perform worse than controls on tests of their social and spatial memory, the study shows. The mice do not distinguish between a new mouse and one they have already met, and they have trouble recognizing when an object in their cage has been moved. Brain imaging also showed that the model mice have overactive neurons in the hippocampus.

The team used a method known as chemogenetics to dampen this overactivity. They gave the mice an injection that prompts some neurons in the hippocampus to produce designer receptors. They then injected the animals with an experimental drug that binds only to those receptors, making the neurons less excitable.

The animals behaviors changed, depending on where they received the injection. Social memory improved when the drug targeted the ventral hippocampus, and spatial memory improved when the drug affected neurons in the dorsal area. Too much inhibition in either area caused the animals memory problems to return.

Using the same technique, the researchers also gave control mice drug-sensitive receptors that either activate or quell the same circuits in the hippocampus. After both treatments, the controls showed the same social memory problems as the mice with 22q11.2 deletions. The results indicate that disrupting the circuits in either direction is enough to change behavior, even without any underlying genetic mutations. The findings were published in May in Biological Psychiatry.

Chemogenetics is a long way off from use in people, but drugs currently on the market may be able to achieve similar outcomes by nudging circuits into a more balanced state, says Peter Scambler, professor of molecular medicine at University College London in England, who was not involved in the work.

Its a proof of principle, he says.

Manipulating circuits that govern specific behaviors should be a goal of all current work at this point, says Anthony LaMantia, professor of developmental disorders and genetics at Virginia Polytechnic Institute and State University in Blacksburg, who was not involved in the work. This is much more targeted and precise. It should make everybody in the field think through how to design their experiments.

Targeting circuits in the hippocampus could help people, because findings in the hippocampus in mice typically translate well to humans, says Rebecca Piskorowski, head of the synaptic plasticity and neuronal circuits team at the Institute of Psychiatry and Neuroscience of Paris in France, who was not involved in the work.

This kind of targeting might also help at any age. The method improved memory in adult mice, suggesting similar treatments could help older people with 22q11.2 deletions and not just children.

This paper shows if you just adjust the activity in a tiny little place, you can somehow compensate for all those developmental problems, Piskorowski says. That is particularly exciting.

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Could induced pluripotent stem cells be the breakthrough genetics has been waiting for? – The New Economy

Posted: July 9, 2020 at 2:47 am

Embryonic stem cells. The ethical issues associated with stem cell research could be resolved through the use of induced pluripotent stem cells, which are derived from fully committed and differentiated cells of the adult body

The almost miraculous benefits that stem cells may one day deliver have long been speculated on. Capable of becoming different types of cells, they offer huge promise in terms of transplant and regenerative medicine. It is, however, also a medical field that urges caution one that must constantly battle exaggeration. If stem cells do in fact hold the potential to reverse the ageing process, for example, then such breakthroughs remain many years away.

Recently, though, the field has had cause for excitement. In 2006, Japanese researcher Shinya Yamanaka discovered that mature cells could be reprogrammed to become pluripotent, meaning they can give rise to any cell type of the body. In 2012, the discovery of these induced pluripotent stem cells (iPSCs) saw Yamanaka and British biologist John Gurdon awarded the Nobel Prize in Physiology or Medicine. Since then, there has been much talk regarding the potential iPSCs possess, not only for the world of medicine, but for society more generally, too.

A big stepHistorically, one of the major hurdles preventing further research into stem cells has been an ethical one. Until the discovery of iPSCs, embryonic stem cells (ESCs) represented the predominant area of research, with cells being taken from preimplantation human embryos. This process, however, involves the destruction of the embryo and, therefore, prevents the development of human life. Due to differences in opinion over when life is said to begin during embryonic development, stem cell researchers face an ethical quandary.

The promise of significant health benefits and new revenue streams has led some clinics to offer unproven stem cell treatments to individuals

With iPSCs, though, no such dilemmas exist. IPSCs are almost identical to ESCs but are derived from fully committed and differentiated cells of the adult body, such as a skin cell. Like ESCs, iPSCs are pluripotent and, as they are stem cells, can self-renew and differentiate, remaining indefinitely propagated and retaining the ability to give rise to any human cell type over time.

One important distinction to make is that both ESCs and iPSCs do not exist in nature, Vittorio Sebastiano, Assistant Professor (Research) of Obstetrics and Gynaecology (Reproductive and Stem Cell Biology) at Stanford Universitys Institute for Stem Cell Biology and Regenerative Medicine, told The New Economy. They are both beautiful laboratory artefacts. This means that at any stage of development, you cannot find ESCs or iPSCs in the developing embryo, foetus or even in the postnatal or adult body. Both ESCs and iPSCs can only be established and propagated in the test tube.

The reason neither ESCs nor iPSCs can be found in the body is that they harbour the potential to be very dangerous. As Sebastiano explained, these cells could spontaneously differentiate into tumorigenic masses because of their intrinsic ability to give rise to any cell type of the body. Over many years of research, scientists have learned how to isolate parts of the embryo (in the case of ESCs) and apply certain culture conditions that can lock cells in their proliferative and stem conditions. The same is true for iPSCs.

To create iPSCs, scientists take adult cells and exogenously provide a cocktail of embryonic factors, known as Yamanaka factors, for a period of two to three weeks. If the expression of such factors is sustained for long enough, they can reset the programme of the adult cells and establish an embryonic-like programme.

Turning back the clockThere is already a significant body of research dedicated to how stem cells can be used to treat disease. For example, mesenchymal stem cells (usually taken from adult bone marrow) have been deployed to treat bone fractures or as treatments for autoimmune diseases. It is hoped that iPSCs could hold the key for many more treatments.

Global stem cell market:25.5%Expected compound annual growth rate (2018-24)$467bnExpected market value (2024)

IPSCs are currently utilised to model diseases in vitro for drug screening and to develop therapies that one day will be implemented in people, Sebastiano explained. Given their ability to differentiate into any cell type, iPSCs can be used to differentiate into, for example, neurons or cardiac cells, and study specific diseases. In addition, once differentiated they can be used to test drugs on the relevant cell type. Some groups and companies are developing platforms for cell therapy, and I am personally involved in two projects that will soon reach the clinical stage.

Perhaps the most exciting prospects draw on iPSCs regenerative properties. Over time, cells age for a variety of reasons namely, increased oxidative stress, inflammation and exposure to pollutants or sunlight, among others. All these inputs lead to an accumulation of epigenetic mistakes those that relate to gene expression rather than an alteration of the genetic code itself in the cells, which, over time, results in the aberrant expression of genes, dysfunctionality at different levels, reduced mitochondrial activity, senescence and more besides. Although the epigenetic changes that occur with time may not be the primary cause of ageing, the epigenetic landscape ultimately affects and controls cell functionality.

What we have shown is that, if instead of being expressed for two weeks we express the reprogramming factors for a very short time, then we see that the cells rejuvenate without changing their identity, Sebastiano said. In other words, if you take a skin cell and express the reprogramming genes for two to four days, what you get is a younger skin cell.

By reprogramming a cell into an iPSC, you end up with an embryonic-like cell the reprogramming erases any epigenetic errors. If expressed long enough, it erases the epigenetic information of cell identity, leaving embryonic-like cells that are also young.

Slow and steadyAs with any scientific advancement, financial matters are key. According to Market Research Engine, the global stem cell market is expected to grow at a compound annual growth rate of 25.5 percent between 2018 and 2024, eventually reaching a market value of $467bn. The emergence of iPSCs has played a significant role in shaping these predictions, with major bioscience players, such as Australias Mesoblast and the US Celgene, working on treatments involving this particular type of stem cell.

The business potential around stem cell research is huge, Sebastiano told The New Economy. [Particularly] when it comes to developing cell banks for which we have detailed genetic information and, for example, studying how different drugs are toxic or not on certain genetic backgrounds, or when specific susceptibility mutations are present.

Unfortunately, even as the business cases for iPSC treatments increase, a certain degree of caution must be maintained. The promise of significant health benefits and new revenue streams has led some clinics to offer unproven stem cell treatments to individuals. There have been numerous reports of complications emerging, including the formation of a tumour following experimental stem cell treatment in one particular patient, as recorded in the Canadian Medical Association Journal last year. Such failures risk setting the field back years.

The challenge for researchers now will be one of balance. The potential of iPSCs is huge both in terms of medical progress and business development but can easily be undermined by misuse. Medical advancements, particularly ones as profound as those associated with iPSCs, simply cannot be rushed.

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Cell Counting Market by Product, Consumables, Cancer, Stem Cell Research, End User – Global Forecast to 2025 – ResearchAndMarkets.com – Business Wire

Posted: July 9, 2020 at 2:47 am

DUBLIN--(BUSINESS WIRE)--The "Cell Counting Market by Product (Instruments (Spectrophotometer, Hemocytometer, Flow Cytometer, Hematology Analyzers), Consumables (Reagent, Microplate)), Cancer, Stem Cell Research, End User (Pharmaceutical, Hospital, Research) - Global Forecast to 2025" report has been added to ResearchAndMarkets.com's offering.

The global cell counting market is estimated to reach USD 14.50 billion by 2025 from USD 10.49 billion in 2020, at a CAGR of 6.7% during the forecast period.

Market growth is largely driven by growing funding for cell-based research, rising incidence of chronic and infectious diseases, growing biotechnology and biopharmaceutical industries, the development of enhanced solutions and improved image analysis, and the growing use of high-throughput flow cytometry and automated hematology analyzers. On the other hand, the high cost of cell analysis is expected to hinder market growth to a certain extent.

The research application segment commanded the largest share of the market in 2019.

On the basis of application, the cell counting market is segmented into research, medical, and industrial applications. In 2019, research applications accounted for the largest share of the market. Increasing government initiatives in stem cell research and the wide usage of cell counting in research are the major factors driving the growth of the research applications segment.

The research institutes segment commanded the largest share of the cell counting market in 2019.

On the basis of end-users, the cell counting market is segmented into research institutes, hospitals & diagnostic laboratories, pharmaceutical & biotechnology companies and CROs, and other end users. In 2019, research institutes accounted for the largest share of the market. The large share of this segment can primarily be attributed to the growing regulatory approvals for cell culture-based vaccines, increasing pharmaceutical R&D expenditure, and commercial expansion of various pharmaceutical companies.

The Asia Pacific region to register the highest growth in the global cell count market during the forecast period.

The Asia Pacific is estimated to grow at the highest CAGR during the forecast period. Factors such as the growing number of proteomics, genomics, and stem cell research activities; increasing research funding; increasing investments by pharmaceutical and biotechnology companies; and the growing trend of research infrastructure modernization are supporting market growth in the Asia Pacific.

Market Dynamics

Drivers

Restraints

Opportunities

Challenges

Company Profiles

For more information about this report visit https://www.researchandmarkets.com/r/dlqdqr

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