Category Archives: Transhuman News

This was the first genome-wide association study of skin pigmentation in African Americans, according to the study authors.

Researchers in a City of Hope-led data study conducted a genome-wide association study using the data of 1076 African Americans to analyze the genetics of skin pigmentation in this group to test whether the identified genetic variants are linked to vitamin D deficiency in African Americans.

"We should not shy from this new study looking at the genetics of skin color and its effects on vitamin D deficiency because being 'colorblind' is what has led to the widespread health disparities that we as a society are now trying to address," said Rick Kittles, PhD, director of the Division of Health Equities at Beckman Research Institute of City of Hope, in a press release. "Skin color has strong social and biological significancesocial because of race and racism and biological because over 70% of African Americans are vitamin D deficient, resulting in increased risk for cancer and cardiovascular disease.

This was the first genome-wide association study of skin pigmentation in African Americans, according to the study authors. Study participants self-identified as African American, and blood samples for DNA analysis and vitamin D levels were collected at recruitment. Scientists then measured the sun-protected area of the skin in the inner upper arms of participants using a digital reflectometer.

Various factors, such as aging, outdoor activities, and consistent UV exposure over the years, may influence skin pigmentation and the association between skin pigmentation and vitamin D levels, according to the study. The researchers found that skin pigmentation gene variants, rather than skin pigmentation, measured using a reflectometer were associated with serum vitamin D levels.

Further, the scientists found 3 regions (SLC24A5, SLC45A2 and OCA2) in the genes of African Americans with strong links to skin color and severe vitamin D deficiency. The genetic variant rs2675345, which is near a region in the gene called SLC24A5, showed the strongest association with skin pigmentation and vitamin D deficiency.

Previous studies have shown that individuals with darker skin pigmentation require longer or more intense ultraviolet radiation exposure to synthesize sufficient levels of vitamin D. The current studys authors said they hope the findings lead into future investigations that examine the newly identified risk score in physicians offices, potentially creating a precision medicine tool.

"This study is an example of the interplay of race and skin color on health and how if we ignore things such as the color of a person's skin, we may be ignoring potential medical issues, thus contributing to health care disparities," Kittles said in a press release. "Our study provides new knowledge about an easily modifiable factor such as vitamin D supplementation and inherited genetic factors affecting vitamin D deficiency in African Americans. With more research, in the future physicians could offer patients of color with an inexpensive way to reduce their risk of vitamin deficiency, which ultimately could help protect against certain cancers."

REFERENCE

Genetic variants for skin color in African Americans linked to vitamin D deficiency. ScienceDaily. Published February 18, 2021. Accessed March 19, 2021. https://www.sciencedaily.com/releases/2021/02/210218142820.htm

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Study: Genetic Variants in Skin Pigmentation Linked to Vitamin D Deficiency - Pharmacy Times

- Initial data from Cohort 1 of the PEARL-1 study shows safety and tolerability of repeat KB301 injections

- Dr. Bhushan Hardas M.D., MBA appointed President, Jeune, Inc.

PITTSBURGH, March 24, 2021 (GLOBE NEWSWIRE) -- Krystal Biotech Inc., (Krystal) (NASDAQ: KRYS), the leader in redosable gene therapies for rare diseases, today announced the launch of Jeune, Inc., a wholly owned subsidiary of Krystal Biotech, and initial safety data from the ongoing Phase 1 trial of Jeunes lead product candidate, KB301 for treatment of aesthetic skin conditions.

Jeune was formed to advance innovative aesthetic medicines and has an exclusive license to a portfolio of candidates derived from Krystals proprietary technology platform. Jeunes products are designed to directly address biological changes in the skin associated with intrinsic and extrinsic aging. The lead product candidate, KB301, delivers the human COL3A1 gene to increase production of normal type III collagen at the site of administration.

My initial clinical experience with KB301 injections has been highly encouraging, said Dr. Mark Nestor, director of the Center for Clinical and Cosmetic Research and the Center for Cosmetic Enhancement. Not only were the injections well-tolerated, but we see clear signs of new collagen generation which underscores the potential of this treatment to directly address the declining levels of collagen that lead to wrinkles and other skin changes.

Initial data from Cohort 1 in the PEARL-1 studyThe Phase 1, open-label, dose-ranging study is being conducted in adult subjects aged 18-75 (NCT04540900). The primary outcome measure in this first-in-human study was to assess the safety profile of KB301. Secondary outcome measures include COL3A1 transgene expression. In Cohort 1, three different dose levels of KB301 were evaluated in seven (7) healthy subjects who received two intradermal injections into healthy buttock tissue spaced 30 days apart (day 0, day 30). KB301 injected areas were compared to uninjected or saline injected control tissue within the same subject. Treatment and control sites were biopsied at day 2 or day 32. Initial results are as follows:

More detailed data from Cohort 1 will be presented as an e-Poster talk at the Society for Investigative Dermatology (SID) Annual Meeting, held virtually May 3-8.

The presentation will be available on-demand for those registered for the SID conference from May 3, 2021 May 31, 2021. The poster will also be available on the companys website at http://www.jeuneinc.com

The company plans to begin enrollment in the efficacy cohorts of the Phase 1 study in the second half of 2021.

Jeune, Inc. LeadershipJeune has assembled a veteran team of leaders and advisors, comprised of pharmaceutical and biotechnology executives who together have decades of experience developing products in the aesthetic medicine space. Dr. Bhushan Hardas M.D., MBA will join the company on March 29th, 2021 as President of Jeune. Before joining Jeune, Dr. Hardas served as Chief Scientific Officer, Executive Vice President, Global Head of Licensing at Almirall and previously served as Chief Medical Officer of Allergan's Dermatology and Medical Aesthetics business.

I am thrilled to be joining Jeune at such an exciting time. With the ability to deliver genes directly to skin cells, this platform has tremendous potential to address underlying biological changes in aging or photo-damaged skin, noted Dr. Hardas. We are starting with KB301 and type III collagen which I look forward to advancing through the clinic, and the team is already working on pipeline programs that will address additional proteins of interest.

Prior to joining Allergan, Dr. Hardas served as Senior Vice President, Global Head of Dermatology and Aesthetics R&D and Chief Scientific Officer of the North American Business at Merz Pharmaceuticals. Dr. Hardas received advanced training in clinical immunology and molecular biology at King's College at the University of London, in London, England. He also completed a research fellowship in the Department of Dermatology at the University of Michigan, and received his Master of Business Administration degree in healthcare management from the University of California - Irvine.

We are thrilled to welcome Bhushan to Jeune, said Krish S. Krishnan, chairman and chief executive officer of Krystal Biotech. His expertise and development experience in aesthetics is an important asset presently and will help guide next steps for both the pipeline and Jeune overall.

Jeune, Inc. Board Krish Krishnan, Chairman and CEO at Krystal Biotech will serve as the Chairman of the Jeune Board. Joining Mr. Krishnan on the Board are Marc Forth, President and CEO of Aeon BioPharma and Suma Krishnan, Founder and COO of Krystal Biotech.

AboutJeune Inc. Jeune Inc., a subsidiary of Krystal Biotech, is a biotechnology company leveraging a clinically validated gene-delivery platform to fundamentally address and reverse the biology of aging and/or damaged skin. For more information, please visithttp://www.jeuneinc.com

AboutKrystal BiotechKrystal Biotech, Inc.(NASDAQ:KRYS) is a pivotal-stage gene therapy company leveraging its novel, redosable gene therapy platform and in-house manufacturing capabilities to develop therapies to treat serious rare diseases. For more information, please visit http://www.krystalbio.com.

Forward-Looking StatementsAny statements in this press release about future expectations, plans and prospects for Krystal Biotech, Inc., or its subsidiary Jeune, Inc., including but not limited to statements about the development of Krystals and Jeunes product candidates, such as plans for the design, conduct and timelines of ongoing clinical trials of KB301 the clinical utility of KB301, the ability of these candidates to fundamentally address and potentially reverse the biology of aging or damaged skin, plans to pursue research and development of other product candidates; and other statements containing the words anticipate, believe, estimate, expect, intend, may, plan, predict, project, target, potential, likely, will, would, could, should, continue, and similar expressions, constitute forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by such forward-looking statements as a result of various important factors, including: the uncertainties inherent in the initiation and conduct of clinical trials, availability and timing of data from clinical trials, whether results of early clinical trials or trials will be indicative of the results of ongoing or future trials, uncertainties associated with regulatory review of clinical trials and applications for marketing approvals, the availability or commercial potential of product candidates including KB301 and such other important factors as are set forth under the caption Risk Factors in Krystals annual and quarterly reports on file with the U.S. Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent Krystals views as of the date of this release. Krystal anticipates that subsequent events and developments will cause its views to change. However, while Krystal may elect to update these forward-looking statements at some point in the future, it specifically disclaims any obligation to do so. These forward-looking statements should not be relied upon as representing Krystals views as of any date subsequent to the date of this release.

CONTACTS:

Investors:Whitney Ijemwijem@krystalbio.com

Media:Mary CoyleTellMed Strategiesmary.coyle@tmstrat.com

Source: Krystal Biotech, Inc.; Jeune, Inc.

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Krystal Biotech Announces Launch of Jeune, a Gene-Based Aesthetics Company, and Initial Phase 1 Safety Data for KB301 in Aesthetic Indications -...

Dose effects: The brains of mice producing only 35 percent of the typical levels of CHD8 protein (right) grow larger in several cortical areas, compared with those producing 50 percent (left).

Mutations that strongly curb the expression of CHD8, a top autism-linked gene, block the proliferation of developing neurons and stymie brain growth in mice, two new studies show. By contrast, mutations that only mildly dampen the genes expression increase proliferation and lead to brain overgrowth, according to one of the studies.

The new work suggests that CHD8 wields its effects on brain size by controlling the proliferation of intermediate progenitor cells, says Albert Basson, professor of developmental neurobiology at Kings College London in the United Kingdom, who led one of the studies. These cells give rise to neurons in the cortex.

People with a missing or mutated copy of CHD8 often have autism, intellectual disability and an atypically large head. But the reason for this third trait has been unclear. Mice and people with one functional copy of the gene both have about half the typical amount of CHD8 protein, but the mice generally show a smaller increase in brain size than people do.

The new studies hint at how both overgrowth and undergrowth can result from mutations in CHD8, depending on how much protein is present and which brain cells are affected.

These two results are basically telling the same thing: CHD8 is a strong promoter of brain growth, says Eunjoon Kim, director of the Center for Synaptic Brain Dysfunctions at the Korea Advanced Institute of Science and Technology in Daejeon, South Korea, who co-led one of the new studies.

In one study, Basson and his team created two new mouse models: one that produces about 35 percent of the usual amount of CHD8 protein, and another that produces about 10 percent of the typical quantity.

The former have unusually large brains, similar to whats seen in people with CHD8 mutations. The latter, on the other hand, have smaller-than-average brains.

This difference arises because CHD8 controls the expression of thousands of other genes some of which have different sensitivities to CHD8s loss, Basson says. In particular, CHD8 suppresses genes controlled by p53, a tumor-suppressing protein that helps keep cell division in check.

An analysis of gene expression levels revealed that CHD8 protein can still perform some of its critical functions in mice that produce 35 percent of the typical levels including, Basson notes, repressing p53 target genes. However, many autism-associated and neurodevelopmental genes are downregulated in these mice.

Also in these mice, the intermediate progenitor cells proliferated more than usual, and more than other cell types did. Multiple genes associated with neural progenitor cell proliferation were upregulated in the cells, researchers found.

In the mice producing 10 percent of typical protein levels, genes regulated by p53 were dominant, driving neural progenitors to mature prematurely or die, resulting in a smaller-than-usual brain.

Deleting CHD8 in just the neural progenitor cells upregulated p53 target genes, resulting in more cell death and an even smaller brain size.

Given the importance of these progenitors in expansion of the human cortex, we suggest that [missing one copy of] CHD8 might have more pronounced effects on fetal brain development in humans, compared [with] mice, Basson says. The work appeared in February in Molecular Autism.

Other researchers should bear in mind the divergent effects of CHD8 loss, Basson says. It could help to explain why different sets of CHD8 mice have sometimes yielded conflicting results.

This uneven trajectory of CHD8 function always required some explanation, and it seems that p53 may be part of that explanation, says Konstantinos Zarbalis, associate professor of pathology and laboratory medicine at the University of California, Davis, who was not involved in the work.

Although researchers showed that CHD8 suppresses p53 function in mice more than a decade ago, this paper elegantly provided support for this, he says.

In the other study, Kims team created mice that lack both copies of CHD8 only in their excitatory neurons. These mice almost completely failed to grow cortical brain structures, according to findings published in February in Cell Reports.

The reason, as in Bassons study, may be cell death, accelerated in the absence of CHD8.

The mice in Kims lab did not show autism-like behaviors once they reached adulthood in fact, they showed increased social behavior.

We were intrigued because cortical areas are known to critically regulate social interaction, Kim says. It almost seems that the loss of cortical areas induces this increase.

Social difficulties associated with CHD8 loss may be rooted in cell types beyond the ones he and his team studied, he says.

The reduced brain size in the mice is also at odds with findings in people with CHD8 mutations. The brain enlargement in people may result from changes in cells other than excitatory neurons, Kim says, or be an indirect consequence of the genes loss something the brain does to compensate for the absence of CHD8.

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Top autism-linked gene has divergent effects on brain growth in mice - Spectrum

INDIANAPOLIS, March 26,2021 /PRNewswire/ --Sexton Biotechnologies, in partnership with Hitech Health and Med Institute, is working towards continued innovations in flexible automation. As cell and gene therapy manufacturers move to close and automate processes, the challenge of integrating existing systems is a pain point for the industry. Flexible automation of traditionally manual process offers a new solution with lower capital expenditures and greater potential for downstream success.

Sexton Biotechnologies is dedicated to providing tools that enhance flexibility and reduce the risk that comes with manual processes. The launch of Sexton's Signata CT-5 provides the first truly flexible fluid management system, capable of integrating multiple processes using the same system. To demonstrate the varied potential of the system, Sexton has engaged Hitech Health and Med Institute to show how it easily connects with other tools used in the manufacturing workflow.

"We're excited to work with these partners to demonstrate how manufacturers can easily integrate separate unit operations in a closed manner using flexible automation systems," said Sean Werner, President of Sexton. "From initial transfer into the manufacturing system through final packaging, the use of these systems provides developers improved control while supporting development iteration.The flexibility allows a user to choose the systems that work best for them, whether it's a platform like CellSeal, the first vial designed specifically for cryopreserved cellular products to be used in an approved commercial cell therapy, or traditional soft-sided bags."

Steve Charlebois, Vice President of Engineering, Regenerative Medicine at Med Institute further points to the importance of the early-stage decision making and its effects on final product.

"We are committed to keeping up with the pace of cell and gene therapy development, to make these lifesaving therapies available to patients," said Steve. "Decisions made early in the development process are critical. Through these strategic partnerships and collaborations, we are able to direct our know-how and experience to address technology bottlenecks that stand in the way of aggressive development and manufacturing timelines. Tackling challenges at each step of development, from ancillary material selection, bioreactor testing, media development, while preserving the principles of closed, flexible, and automated processes, translates to cost-effective, scalable solutions for cell and gene therapies."

Hitech Health is focused on product development, manufacture, launch, and supply of cell and gene therapies. Aoife Duffy, Cell and Gene Therapy Operations Manager, leads a team that has successfully developed multiple cell and gene therapy products.

"We think it is important to collaborate with other companies so that we can add to our expertise in operational activities," said Aoife. "Cell and gene therapy products are expensive to develop and manufacture. Working with Sexton and the Med institute to bring the new fluid management system to the market will help with making processing more efficient. Hitech Health is bringing our extensive operational and GMP Manufacturing expertise to this collaboration. We are expanding our capabilities to cell and gene therapy process development and manufacturing. Additional expertise we bring to the collaboration includes quality, QP approval, and management of supply chain. In the end, we believe that this collaboration will lead to time and cost savings, along with greater downstream success in the manufacture of cell therapy products."

The collaboration between the companies will result in detailed workflows demonstrating capabilities with bioreactors, packaging, formulation, and additional equipment. These efforts are currently underway with publication of workflows expected to begin in early 2021.

ABOUT SEXTON BIOTECHNOLOGIESSexton Biotechnologies is a revenue stage, biotechnology company focused on the development and sales of bioproduction tools for cell and gene therapy founded in 2019 as a spin out of Cook Regentec, a life science incubator/accelerator located in Indianapolis, IN. Sexton develops purpose-built CGT tools and media to enable flexible automation and scaling of cell manufacturing processes to increase the probability of positive clinical outcomes and reduce time-to-market, failure points, and labor costs. Sexton's portfolio includes the fluid handling system, Signata CT-5, CellSeal platform of cryo-storage tools and fill/finish systems, and human platelet lysate growth supplements. More information at http://www.sextonbiotechnologies.com.

For media contactsDusty Howe[emailprotected]

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http://www.sextonbio.com

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Sexton Biotechnologies, Hitech Health, And Med Institute Announce Collaboration To Demonstate The Benefits Of Flexible Automation - PRNewswire

DUBLIN, March 25, 2021 /PRNewswire/ -- The "Artificial Intelligence In Genomics Market by Offering (Software, Services),Technology (Machine Learning, Computer Vision), Functionality (Genome Sequencing, Gene Editing), Application (Diagnostics), End User (Pharma, Research)-Global Forecasts to 2025" report has been added to ResearchAndMarkets.com's offering.

The global AI in genomics market is projected to reach USD 1,671 million by 2025 from USD 202 million in 2020, at a CAGR of 52.7% between 2020 and 2025.

The need to control drug development and discovery costs and time, increasing public and private investments in AI in genomics, and the adoption of AI solutions in precision medicine are driving the growth of this market. However, the lack of a skilled AI workforce and ambiguous regulatory guidelines for medical software are expected to restrain the market growth during the forecast period.

Machine learning segment is expected to grow at the highest rate during the forecast period

Based on technology, the AI in genomics market is segmented into machine learning and other technologies. The machine learning segment is projected to register a higher CAGR during the forecast period. The high growth rate of this segment is mainly as pharmaceutical companies, CROs, and biotechnology companies have widely adopted machine learning for drug genomics applications. This is because machine learning can extract insights from data sets, accelerating genomic research.

Diagnostics segment is estimated to account for the largest share of the AI in genomics market in 2019

Based on application, the AI in genomics market is segmented into diagnostics, drug discovery &development, precision medicine, agriculture & animal research, and other applications. Diagnostics was the largest application segment in the AI in genomics market in 2019. The large share of this segment can be attributed to the increasing research on diseases and the decreasing cost of sequencing.

North America is expected to dominate the AI in genomics market in 2020

In 2019, North America accounted for the largest share of the AI in genomics market, followed by Europe. The large share of North America can be attributed to the increasing research funding and government initiatives for promoting precision medicine in the US. The market in the Asia Pacific region, on the other hand, is projected to register the highest CAGR during the forecast period. Emerging countries in the APAC, such as India and China, offer lucrative growth opportunities for market players, primarily due to the increasing public and private funding, improving healthcare infrastructure, and rapid economic growth.

Key Topics Covered:

1 Introduction

2 Research Methodology

3 Executive Summary

4 Premium Insights4.1 AI in Genomics: Market Overview4.2 AI in Genomics Market, by End-user4.3 North America: AI in Genomics Market, by Technology & Country (2019)4.4 Geographical Snapshot of the AI in Genomics Market

5 Market Overview5.1 Introduction5.2 Market Dynamics5.2.1 Drivers5.2.1.1 Need to Control the Time and Costs of Drug Development and Discovery5.2.1.2 Increasing Investments in AI in Genomics5.2.1.3 Rising Adoption of AI in Precision Medicine5.2.1.4 Growing Genomic Datasets5.2.2 Restraints5.2.2.1 Lack of Skilled AI Workforce and Ambiguous Regulatory Guidelines for Medical Software5.2.3 Opportunities5.2.3.1 Focus on Developing Human-Aware AI Systems5.2.4 Challenges5.2.4.1 Lack of Curated Genomic Data5.2.4.2 Data Privacy Concerns5.3 Impact of COVID-19 on the AI in Genomics Market5.4 Ecosystem

6 Artificial Intelligence in Genomics Market, by Offering6.1 Introduction6.2 Software6.2.1 Benefits Offered by Software & Strong Demand Among End-users Are Driving Market Growth6.3 Services6.3.1 Services Segment to Witness the Highest Growth During the Forecast Period

7 Artificial Intelligence in Genomics Market, by Technology7.1 Introduction7.2 Machine Learning7.2.1 Deep Learning7.2.1.1 Deep Learning is the Fastest-Growing and Largest Subsegment of Machine Learning7.2.2 Supervised Learning7.2.2.1 Supervised Learning Can Help Create Predictive Models7.2.3 Reinforcement Learning7.2.3.1 APAC to Show the Highest Growth in the Reinforcement Learning Market7.2.4 Unsupervised Learning7.2.4.1 Unsupervised Learning Algorithms Allow for Complex Processing Tasks, Exceeding the Capabilities of Supervised Systems7.2.5 Other Machine Learning Technologies7.3 Other Technologies

8 Artificial Intelligence in Genomics Market, by Functionality8.1 Introduction8.2 Genome Sequencing8.2.1 Genome Sequencing Holds the Largest Share of the Market, by Functionality8.3 Gene Editing8.3.1 Growing Implementation of Machine Learning in Gene Editing May Help Reduce Time and Costs8.4 Clinical Workflows8.4.1 Machine Learning Can Help Increase the Efficiency of the Clinical Workflow8.5 Predictive Genetic Testing & Preventive Medicine8.5.1 AI in Genomics Can Predict Outcomes and the Risks Associated in Curing Genetic Diseases, Based on the Available Data

9 Artificial Intelligence in Genomics Market, by Application9.1 Introduction9.2 Diagnostics9.2.1 Diagnostics Forms the Largest and Fastest-Growing Application Segment of the AI in Genomics Market9.3 Drug Discovery & Development9.3.1 Growing Application of AI in Genomics in Drug Discovery & Development to Propel Market Growth9.4 Precision Medicine9.4.1 Precision Medicine Focuses on Identifying the Most Effective Medical Treatments for Patients9.5 Agriculture & Animal Research9.5.1 AI in Genomics Helps in Improving the Productivity of Crops and Livestock9.6 Other Applications

10 Artificial Intelligence in Genomics Market, by End-user10.1 Introduction10.2 Pharmaceutical & Biotechnology Companies10.2.1 Rising Demand for Solutions to Cut Time and Costs of Drug Development Have Drawn End-User Attention to AI in Genomics10.3 Research Centers, Academic Institutes, & Government Organizations10.3.1 Rising Research Activity to Drive the Usage of AI in Genomics Systems Among Academic & Government Institutes10.4 Healthcare Providers10.4.1 Increasing Demand for Pharmacogenomics to Drive the Acceptance of Ngs in Hospitals10.5 Other End-users

11 Artificial Intelligence in Genomics Market, by Region11.1 Introduction11.2 North America11.2.1 US11.2.1.1 The US Dominates the North American AI in Genomics Market11.2.2 Canada11.2.2.1 Increasing Research in Genomics to Drive Market Growth11.3 Europe11.3.1 UK11.3.1.1 UK to Register the Highest CAGR in the European Market During the Forecast Period11.3.2 Germany11.3.2.1 Availability of Funding for AI Initiatives to Boost the Market Growth in Germany11.3.3 France11.3.3.1 Increasing Government Investments in Genomics to Boost the Growth of the French Market11.3.4 RoE11.4 Asia-Pacific11.4.1 Efforts to Develop It Infrastructure Will Drive the Market for AI in the APAC11.5 RoW

12 Competitive Landscape12.1 Overview12.2 AI in Genomics Market: Ranking Analysis (2019)12.3 Competitive Scenario (2018-2020)12.3.1 Key Agreements, Contracts, and Partnerships (2018-2020)12.3.2 Key Product Launches (2018-2020)12.3.3 Key Expansions (2018-2020)12.3.4 Key Acquisitions (2018-2020)12.4 Competitive Leadership Mapping12.5 Vendor Inclusion Criteria12.5.1 Stars12.5.2 Emerging Leaders12.5.3 Pervasive Players12.5.4 Emerging Companies

13 Company Profiles13.1 IBM13.2 Nvidia13.3 Microsoft Corporation13.4 Deep Genomics13.5 BenevolentAI13.6 Fabric Genomics13.7 Verge Genomics13.8 Freenome Holdings13.9 Molecularmatch13.10 Cambridge Cancer Genomics13.11 Sophia Genetics13.12 Data4Cure13.13 Precisionlife13.14 Genoox13.15 Lifebit13.16 Diploid13.17 Fdna13.18 DNAnexus13.19 Empiric Logic13.20 Engine Biosciences

14 Appendix14.1 Discussion Guide14.2 Available Customizations14.3 Related Reports14.4 Author Details

For more information about this report visit https://www.researchandmarkets.com/r/cz1n76

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Research and Markets Laura Wood, Senior Manager [emailprotected]

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The Worldwide Artificial Intelligence in Genomics Industry is Expected to Reach $1.6 Billion by 2025 - PRNewswire

Over the past several years, the oncology community has witnessed a significant improvement in identifying genetic mutations associated with increased risk of breast malignancies.1 As the understanding of genetic risk factors in breast cancer continues to grow, professional organizations have sought to provide specific recommendations for genetic testing that would prevent overtesting yet still diagnose as many mutations as possible in patients.

In general, the gold standard [for guidelines] is clinical utility, said Susan M. Domchek, MD, the Basser Professor in Oncology at Penn Medicine in Philadelphia, executive director of the Basser Center for BRCA, and director of MacDonald Womens Cancer Risk Evaluation Center. Were all looking at the same data, and it just comes down to perspective for how you interpret those data.

Currently, controversy surrounds guideline recommendations for eligibility in genetic testing. The US Preventive Services Task Force and the National Comprehensive Cancer Network (NCCN) guidelines recommend genetic testing for patients with breast cancer and a family history associated with germline BRCA1/2 mutations or who have a personal history with an increased risk of BRCA1/2 mutations.1,2 Utilizing testing criteria recommended by the NCCN may not identify a small number of individuals who have no family history but carry pathogenic variants of high-risk breast cancer genes.

The guidelines from the NCCN focus on the likelihood of finding genes where we have specific information [on] how to use that and how helpful it is to patients, for instance, [with] BRCA and other [high-penetrance] gene mutations, said Domchek.

Conversely, the American Society of Breast Surgeons (ASBrS) recommends genetic testing for all patients with breast cancer.3 However, the paradigm shift from genetic testing in individuals with a family history to the testing of all patients with breast cancer, as recommended by ASBrS, may lead to unnecessary testing and the potential for harm.4 The optimal model for genetic testing in patients with breast cancer has not yet been identified, though some strategies have been proposed.

According to results of a recently published single-center, prospective study, population-based genetic testing in patients with breast cancer younger than 65 years may optimize the identification of germline pathogenic variants.5 The sensitivity and specificity of NCCN and ASBrS criteria for germline pathogenic variants were assessed. The primary analysis evaluated 9 established, actionable breast cancer predisposition genes (ATM, BRCA1/2, CDH1, CHEK2, NF1, PALB2, PTEN, and TP53). In the entire population evaluated (N=3907), 6.2% had germline pathogenic variants, with CHEK2, BRCA2, BRCA1, and ATM occurring at the highest frequency.

CHEK2 and ATM are challenging because theyre strongly modified by family historyso we view it as a risk factor, Domchek said.

Approximately 48% of patients met NCCN guidelines criteria for genetic testing, whereas 52% of patients did not. Individuals who met NCCN criteria were more likely to have a pathogenic variant in 1 of the 9 genes, 9.0% versus 3.5%, compared with individuals who did not meet NCCN criteria (P<.001). The primary analysis revealed a sensitivity of 70.1% and a specificity of 53%. When the investigators modified the NCCN criteria to include patients who were 65 years old at the time of receiving a diagnosis and family history, the sensitivity increased to over 90% for pathogenic variants in 9 predisposition genes.5 Currently, the clinical utility in genetic testing in women over 65 years is unknown because the probability of detecting a germline pathogenic variant decreases with age.4

To improve upon a previous study by Yadav et al, Desai et al proposed to test individuals with breast cancer under 60 years.4 The sensitivity for detecting pathogenic variants decreased slightly when testing patients under 60 years compared with patients who were 65 years or younger, 98.1% versus 95.3% for BRCA1/2, respectively. The sensitivity for detection of pathogenic variants in 6 high-risk genes also decreased with age 60 years and under compared to 65 years and under, 94.8% versus 91%, respectively. For patients who received a breast cancer diagnosis who were over 60 years, the investigators concluded that using the NCCN family-based criteria would be appropriate. However, the investigators noted there might be an increased detection of variance of unknown significance (VUS) with this approach.

In addition to the controversy of patient selection for genetic testing, a lack of consensus exists regarding the number of genes that the testing panel should include. The introduction of next-generation sequencing has allowed genetic testing to become more accessible with a lower financial burden.6 There are over 170 breast cancer susceptibility variants identified based on the largest genome-wide association study.7

Costs are coming down, but when people at low risk get genetic testing, were more likely to find things [such as] VUS, which are changes in the genetic code that we dont understand, than we are to find something important. The risk-benefit ratio changes depending on [what] the risk is to begin with, said Domchek.

A study using Surveillance, Epidemiology, and End Results (SEER) data evaluated 187,535 patients with breast cancer.8 However, only 25.2% of those patients had genetic testing analysis. This genetic testing demonstrated a prevalence of BRCA1/2 pathogenic variants in 5.2% of individuals, whereas other genetic variants (APC, CDH1, MLH1, MSH2, MSH6, NF1, PMS2, PTEN, RET, and TP53) were associated with an increased risk of breast cancer in 4.9% of individuals.

We dont do a great job of testing individuals who currently meet testing criteria, and we have a real problem with disparity. We want to make sure that people at the highest risk are being tested. Thats a clear priority, stated Domchek.

Another study that evaluated the prevalence of germline pathogenic variants used a US-based consortium, Cancer Risk Estimates Related to Susceptibility Genes (CARRIERS).9 The analysis included 12 studies that were part of the population-based CARRIERS analysis with 32,247 case patients and 32,544 controls. There were 12 established breast cancer predisposition genes assessed (ATM, BARD1, BRCA1/2, CDH2, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, and TP53). The prevalence of germline pathogenic variants in the population-based analysis was 5.03% (95% CI, 4.79%-5.27%) in case patients and 1.33% (95% CI, 1.50%-1.78%) in controls (FIGURE).9 The highest rates of prevalence of pathogenic variants were seen with BRCA2, CHEK2, and BRCA1 genes.

Regarding the study, Domchek said, If you look at 12 genes that are putatively associated with breast cancer, 5% of patients have mutations in those genes, but several of those [genes] are not clearly associated with risk.

Results also determined pathogenic variants in BRCA1 (odds ratio [OR], 7.62; 95% CI,5.33-11.27) and BRCA2 (OR, 5.23; 95% CI, 4.09-6.77) were associated with high breast cancer risk. Moderate breast cancer risk was observed in pathogenic variants in PALB2 and CHEK2 (OR, 3.83; 95% CI, 2.68-5.63; and OR, 2.47; 95% CI, 2.02-3.05), respectively.

Furthermore, different pathogenic variants were associated with specific breast cancer subtypes. Pathogenic variants in BARD1, RAD51C, and RAD51D placed the individual at moderate risk for estrogen receptor (ER) negative breast cancer and triple-negative breast cancer (TNBC). Conversely, pathogenic variants in ATM, CDH1, and CHEK2 were associated with ER-positive breast cancer. Additionally, there was a higher prevalence of pathogenic variants in BRCA1/2 and PALB2 observed with TNBC compared with ER-positive breast cancer, 8.13% versus 1.84%, respectively.

Another large study analyzed data from 44 studies in the Breast Cancer Association Consortium with 60,466 patients and 53,461 controls.10 For the purpose of population-based analysis, 48,826 patients and 50,703 controls were included from the total number of individuals in the study. Results showed pathogenic variants in 5 genes were associated with an increased risk of breast cancer (P <.0001). Additional pathogenic variants associated with high-risk breast cancer were found in BARD1, RAD51C, RAD51D, and TP53 (P <.05). There were also associations with pathogenic variants and different subtypes of breast cancer. As in the CARRIERS study, CHEK2 was associated with ER-positive compared with ER-negative breast cancer (OR, 2.67; 95% CI, 2.30-3.11; vs OR, 1.64; 95% CI, 1.25-2.16). Pathogenic variants in ATM were more frequently found in ER-positive than in ER-negative breast cancer (OR, 2.33; 95% CI, 1.87-2.91; vs OR, 1.01; 95% CI, 0.64-1.59). Additionally, there were more pathogenic variants (BARD1, BRCA1/2, PALB2, RAD51C, and RAD51D) associated with ER-negative compared with ER-positive breast cancer (P <.05).

The appropriate identification of patients and important pathogenic variants in genetic testing may lead to optimization of care in the age of precision medicine. The results from genetic testing may have implications for patients ranging from surgical, radiation, and targeted therapeutic intervention, as well as prevention strategies for patient family members.6 Patients with BRCA1/2 mutations with metastatic breast cancer may benefit from targeted therapy with PARP inhibitors.6,11

In the early-stage [breast cancer] setting, were testing BRCA1/2 to talk about removal of the ovaries and the consideration for removal of the [contralateral] breast. The clearly actionable [genes] are BRCA1/2 and PALB2, said Domchek.

A population-based cohort study evaluated pathogenic variants and clinical treatment pathways in patients with breast cancer using SEER registries in 20,568 individuals.11 Patients were nonexclusively stratified into 3 separate treatment subgroups including surgery, radiation, and chemotherapy. The results demonstrated an increased prevalence of bilateral mastectomy (n=15,126) and chemotherapy treatment (n= 8509) for individuals with pathogenic variants in BRCA1/2 or other genes (ATM, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, and TP53). Individuals with BRCA1/2 and other genetic pathogenic variants were more likely to undergo bilateral mastectomy compared with those with VUS (OR, 5.52; 95% CI, 4.73-6.44; and OR, 2.41; 95% CI, 1.92-3.03; vs OR, 0.99; 95% CI, 0.89-1.1, respectively). Additionally, individuals with BRCA1/2 and other genetic pathogenic variants were more likely to receive chemotherapy treatment compared with those with VUS (OR, 1.76; 95% CI, 1.31-2.34; and OR, 1.27; 95% CI, 0.87-1.86; vs OR, 0.95; 95% CI, 0.81-1.11, respectively). There is currently no consensus on patient selection or gene selection.

Our goal is to make sure that every candidate who is a good candidate for genetic testing gets tested regardless of their race, ethnicity, or socioeconomic status. Family history should be taken, and [patients] should know about the availability of testing and be counseled on their level of risk, said Domchek. This is the intersection among regulations, insurance coverage, and prior probability. I do think that genetic testing is only going to become more widespread, and our job is to make sure that patients understand what tests are being sent and the potential implications of the results.

References:

1. NCCN. Clinical Practice Guidelines in Oncology. Genetic/familial highrisk assessment: breast, ovarian, and pancreatic, version 2.2021. Accessed February 8, 2021. https://bit.ly/3uc4qqY

2. BRCA-related cancer: risk assessment, genetic counseling, and genetic testing. US Preventive Services Task Force. August 20, 2019. Accessed February 8, 2020. https://bit.ly/37o7EOo

3. Manahan ER, Kuerer HM, Sebastian M, et al. Consensus guidelines on genetic testing for hereditary breast cancer from the American Society of Breast Surgeons. Ann Surg Oncol. 2019;26(10):3025-3031. doi:10.1245/ s10434-019-07549-8

4. Desai NV, Yadav S, Batalini F, Couch FJ, Tung NM. Germline genetic testing in breast cancer: rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years. Cancer. Published online November 4, 2020. doi:10.1002/cncr.33305

5. Yadav S, Hu C, Hart SN, et al. Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer. J Clin Oncol. 2020;38(13):1409-1418. doi:10.1200/JCO.19.02190

6. Angeli D, Salvi S, Tedaldi G. Genetic predisposition to breast and ovarian cancers: how many and which genes to test? Int J Mol Sci. 2020;21(3):1128. doi:10.3390/ijms21031128

7. Zhang H, Ahearn TU, Lecarpentier J, et al. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses. Nat Genet. 2020;52(6):572-581. doi:10.1038/ s41588-020-0609-2

8. Kurian AW, Morrow M, Katz S. Trends in genetic testing and results for women diagnosed with breast cancer or ovarian cancer, 2013-2017. Presented at: 2020 San Antonio Breast Cancer Symposium; December 8-12, 2020; virtual. Abstract PD10-01.

9. Hu C, Hart SN, Gnanaolivu R, et al. A population-based study of genes previously implicated in breast cancer. N Engl J Med. 2021;384(5):440- 451. doi:10.1056/NEJMoa2005936

10. Breast Cancer Association Consortium, Dorling L, Carvalho S, et al. Breast cancer risk genes - association analysis in more than 113,000 women. N Engl J Med. 2021;384(5):428-439. doi:10.1056/NEJMoa1913948

11. Kurian AW, Ward KC, Abrahamse P, et al. Association of germline genetic testing results with locoregional and systemic therapy in patients with breast cancer. JAMA Oncol. 2020;6(4):e196400. doi:10.1001/jamaoncol.2019.6400

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Next-Generation Sequencing Informs Genetic Testing in Breast Cancer - Targeted Oncology

-- Application website is now open for the 2021 Scholarship Program --

-- The Company will award up to 15 academic scholarships to individuals diagnosed with Duchenne muscular dystrophy --

CAMBRIDGE, Mass., March 23, 2021 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, today announced that the website for Route 79, The Duchenne Scholarship Program, is officially open and accepting applications. Academic scholarships of up to $5,000 will be awarded to up to 15 individuals chosen by an independent committee of Duchenne community members based on an applicants community involvement, personal essay, and recommendation letter. The Route 79 program is designed to help students with Duchenne pursue their post-secondary educational goals.

We are thrilled to be launching Route 79, The Duchenne Scholarship Program, for the fourth year. Over the course of the program, weve had the privilege of granting over 50 scholarships to students with Duchenne, as they work to achieve their unique and varied educational goals. Each year brings new applicants, along with impressive examples of resilience, ambition, and commitment to learning. It is our great pleasure to offer this scholarship to support these students in their pursuit of higher education. We look forward receiving and evaluating applications for the next group of Route 79 scholars for the 2021-2022 school year, said Diane Berry, Sareptas Senior Vice President of Global Health Policy, Government and Patient Affairs.

The underlying cause of Duchenne is a mutation or error in the gene coding for dystrophin. Dystrophin is an essential protein that plays a pivotal role in muscle structure, function and preservation. The numerical significance of the scholarships name, Route 79, ties to the 79 exons of the dystrophin gene.

To apply for a scholarship through the Route 79 program, applicants must be accepted to or enrolled in an accredited college or university or a trade, technical or vocational school located in the United States and be diagnosed with Duchenne muscular dystrophy. College seniors or college graduates accepted to or enrolled in graduate school are also eligible to apply. Previous recipients of Route 79 scholarships are eligible to apply for the 2021 Scholarship Program and prior recognition in the Program will have no bearing on 2021 applications. No consideration will be given to whether an applicant was previously, is currently, or expects to be in the future, undergoing treatment with a Sarepta product or investigational therapy.

Applications will be accepted until May 11, 2021 at 11:59 p.m. PDT. Recipients will be notified prior to August and awards will be distributed in time for fall 2021 enrollment. Students may learn more about the program and how to apply by clicking here.

AboutSarepta TherapeuticsAt Sarepta, we are leading a revolution in precision genetic medicine and every day is an opportunity to change the lives of people living with rare disease. The Company has built an impressive and competitive position in Duchenne muscular dystrophy (DMD) and in gene therapies for limb-girdle muscular dystrophies (LGMDs), mucopolysaccharidosis Type IIIA, Charcot-Marie-Tooth (CMT), and other CNS-related disorders, with more than 40 programs in various stages of development. The Companys programs and research focus span several therapeutic modalities, including RNA, gene therapy and gene editing. For more information, please visit http://www.sarepta.com or follow us on Twitter, LinkedIn, Instagram and Facebook.

Internet Posting of InformationWe routinely post information that may be important to investors in the 'For Investors' section of our website atwww.sarepta.com. We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

Investors:Ian Estepan, 617-274-4052, iestepan@sarepta.com

Media:Tracy Sorrentino, 617-301-8566, tsorrentino@sarepta.com

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Sarepta Therapeutics Announces Fourth Year of Route 79, The Duchenne Scholarship Program - GlobeNewswire

THURSDAY, March 25, 2021 (HealthDay News) -- Women with advanced ovarian cancer often face grim statistics, with less than half surviving for five years after their diagnosis. However, a new study suggests that so-called "maintenance therapy" with a targeted cancer drug may add years to some patients' lives.

In findings described by some experts as "remarkable," the study showed that women with advanced ovarian cancer linked to the BRCA gene were much more likely to be alive with no signs of their cancer coming back in five years if they receive Lynparza (olaparib), a targeted cancer therapy known as a PARP inhibitor.

This class of drugs blocks an enzyme called PARP that cancer cells need to repair damage to their genetic material, and blocking it causes cancer cells to die. There are two other PARP inhibitors approved to treat ovarian cancer, Zejula (niraparib) and Rubraca (rucaparib).

PARP inhibitors are particularly effective against cancers linked to BRCA genes. Often thought of as the breast cancer genes, BRCA1 and BRCA2 are responsible for roughly 25% of ovarian cancer cases.

The new study provides five-year follow-up data from a clinical trial of women with BRCA-positive advanced ovarian cancer who received Lynparza for two years after their initial treatment ended.

Happily, the survival benefits lasted five years out regardless of how aggressive the cancers were, said study author Dr. William Bradley, a gynecologic oncologist at Froedtert Health and Medical College of Wisconsin in Milwaukee.

It's still too early to use the word cure, but that may be where this is headed, he added. "Maintenance therapy with Lynparza really should be considered standard of care for BRCA-positive advanced ovarian cancer," Bradley said.

The study included 391 women with a BRCA mutation and advanced ovarian cancer who completed chemotherapy; 260 received Lynparza and 131 received a placebo. When compared with women on the placebo pill, more than twice as many women on Lynparza were still alive with no progression of their cancer five years after the study began. The trial was funded by Lynparza maker AstraZeneca.

"This is really good news," Bradley said. "Women enjoyed the benefit for the next three years when off therapy."

Calling the new results "quite remarkable," Dr. Konstantin Zakashansky, director of gynecologic oncology at Mount Sinai West in New York City, said that the new findings may well be akin to a cure for these women.

"Even after five years, there is quite a significant benefit," said Zakashansky, who wasn't part of the study. "We have never seen anything like this before with ovarian cancer."

PARP inhibitors do have their share of side effects, including risk for blood abnormalities that can leave women more prone to infection or fatigue, but the follow-up data showed that these do not get worse with time, researchers said. "The safety signal did not progress or become ominous," Bradley said.

These women will now be followed indefinitely, he added.

The new findings suggest that maintenance therapy with Lynparza has a lasting impact for women with BRCA-positive advanced ovarian cancer, and time will answer all remaining questions, said Dr. Deborah Armstrong, a professor of oncology at Johns Hopkins Kimmel Cancer Center in Baltimore. She was not involved in the new study.

"Is it possible that two years of therapy with this drug is nipping cancer cells in the bud or are they just quieted down and will come back later?" Armstrong asked.

Another point is that the new drug may be cost-prohibitive for some women, she said. "It is extremely expensive, costing $10,000 to $12,000 a month, and even people with really good insurance have high copays."

The findings were presented at the Society of Gynecologic Oncology's virtual annual meeting, held March 19-25. Findings presented at medical meetings are considered preliminary until published in a peer-reviewed journal.

More information

The National Ovarian Cancer Coalition offers more on ovarian cancer treatment options.

SOURCES: William Bradley, MD, gynecologic oncologist, Froedtert Health and Medical College of Wisconsin, Milwaukee; Deborah K. Armstrong, MD, professor, oncology, professor, gynecology and obstetrics, Johns Hopkins Kimmel Cancer Center, Baltimore; Konstantin Zakashansky, MD, director, gynecologic oncology, Mount Sinai West, and associate professor, obstetrics and gynecology, Icahn School of Medicine, Mount Sinai, New York City; Society of Gynecologic Oncology, virtual annual meeting; March 19-25, 2021

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Drug Boosts Survival for Women With Advanced Ovarian Cancer - HealthDay News

Mar 27th 2021

THE FIRST virus to have its genome read was an obscure little creature called MS2; the 3,569 RNA letters it contained were published in 1976, the hard-won product of some ten years work in a well-staffed Belgian laboratory. The SARS-CoV-2 genome, almost nine times longer, was published just weeks after doctors in Wuhan first became concerned about a new pneumonia. That feat has since been repeated with getting on for 1m different samples of SARS-CoV-2 in the hunt for fearsome variants like the one ravaging Brazil. Within weeks of its publication, the original genome sequence became the basis for the vaccines that today are stymieing the virus wherever supplies, politics and public confidence allow.

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It is hardly remarkable that medical science has moved on since 1976. But the covid-19 pandemic has brought the sharp joy of seeing decades of cumulative scientific progress in sudden, concerted action. The spate of data, experiments and insights has had profound effects on the pandemicand, indeed, on the future of medicine. It is also an inspiration. Around the world, scientists have put aside their own work in order to do their bit against a common foe. Jealously guarded lab space has been devoted to the grunt work of processing tests. Covid-19 has led to some 350,000 bits of research, many of them on preprint servers that make findings available almost instantaneously.

The basis of all this is the application of genetics to medicine in a systematic and transformative waynot just in understanding the pathology of diseases but in tracking their spread and curing and preventing them. This approach could underpin what is becoming known as natural securitythe task of making societies resilient in the face of risks stemming from their connection to the living world, whether because of disease, food insecurity, biological warfare or environmental degradation.

The application of genetics to medicine partly reflects huge, rapid gains in efficiency. Reading the DNA in a human genome cost $10m in 2007, today it takes less than $1,000 and a fraction of the time. Coupled with ever-better ways of synthesising and editing genes, this has enabled cleverness little short of the miraculous. Before the pandemic, these trailblazing techniques were not much talked about beyond the laboratory. Having shown their mettle against a brand new disease, they have burst out into the open.

Take the vaccination technology rapidly developed by Moderna of America and BioNTech of Germany, building on years of patient and often unsung work on RNA, a store of genetic information. It is remarkable that you can simply instruct the bodys cells to make the viral protein you have designed to prime the immune system. The RNA vaccines are testament to the insight of Eddie Cantor, a comedian, that it takes 20 years to become an overnight success.

With this proof of concept, the investments of companies that have worked hard on RNA may now pay off. To some extent, RNA medicine divorces form from function. An RNA vaccine against any disease is a message written in genetic code: a vaccine against malaria, or some form of cancer, can be made in the same way and with the same equipment as a SARS-CoV-2 vaccine. If this provides a platform for getting cells to do all sorts of specific things and to desist from others, as it promises to, medicine will become both more powerful and more personal. Therapies tailored to rare, even one-off, genetic abnormalities should become routine.

The pandemic has also demonstrated the value of gene-sequencing technologies. Observing SARS-CoV-2 as it mutates is essential if the world is to understand and defend itself against dangerous variants. Should covid-19 become endemic, as is likely, sequencing will become the basis for developing regular booster shots. More broadly, routine sequencing is one of the best ways of knowing what is out there. Companies have done brilliantly in producing powerful sequencing systems for trained technicians. Now the world needs cheap, ubiquitous and reliable systems that can be used in the prison sick bay or the rural health centre, on the farm or at the town sewage works, to act as early-warning systems for the spread of pathogens.

Another area of work is where the pandemic has revealed a gap. Even todays progress has yet to produce small-molecule antivirals to combat SARS-CoV-2. A focus for natural security should be drugs aimed at the viral families most likely to cause trouble in the future. This is not something that the market will support on its own. New mechanisms that involve governments will be needed, such as funds for R&D and trials and to buy stockpiles of medicine. Similar approaches should also be used for the looming threat of antibiotic-resistant bacteria.

These innovations will have big consequences. General-purpose RNA medicine asks new things of firms and regulatorsas do other platforms, including some forms of gene therapy. Regulators will need to take advantage of the fact that, say, a malaria vaccine and a SARS-CoV-2 vaccine are both made on the same platform by streamlining approval for them, while continuing to ensure safety.

Drugs firms will have to adapt, as some chronic conditions may, in effect, be cured. Many are used to concentrating on the long-lasting afflictions that most trouble the rich world: heart disease, cancer, metabolic disorders, neurodegenerative conditions and the like. If drug development is more targeted on instructing cells what to do, rather than finding novel molecules against specific proteins, some of the know-how on which old-style pharma is based will be less relevant. Firms will need new pricing models and a new focus to their research.

Technology will not, in itself, thwart pandemics. That goal also requires systems and institutions which use technology broadly and wisely. Without good systems, great technology will often provide only mediocre results, as it has in many covid-19 test-and-trace programmes. But the pandemic has shown that biomedical science has the tools and the enthusiasm to improve the world. The world must now build on both.

Dig deeper

All our stories relating to the pandemic and the vaccines can be found on our coronavirus hub. You can also listen to The Jab, our new podcast on the race between injections and infections, and find trackers showing the global roll-out of vaccines, excess deaths by country and the viruss spread across Europe and America.

This article appeared in the Leaders section of the print edition under the headline "Science after the pandemic"

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Science after the pandemic - Bright side of the moonshots | Leaders - The Economist

Samah A Loutfy,1 Zeinab F Abdallah,1 Mohamed Shaalan,2 Mohamed Moneer,3 Adel Karam,3 Manar M Moneer,4 Ibrahim M Sayed,5,6 Amer Ali Abd El-Hafeez,7,8 Pradipta Ghosh,8 10 Abdel-Rahman N Zekri1

1Virology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt; 2Surgical Oncology Department, National Cancer Institute, Cairo University, Cairo, Egypt; 3Surgical Oncology Department, Materia Teaching Hospital, Cairo, Egypt; 4Biostatistics and Epidemiology Department, National Cancer Institute, Cairo University, Cairo, Egypt; 5Department of Medical Microbiology and Immunology, Faculty of Medicine, Assiut University, Assiut, Egypt; 6Department of Pathology, School of Medicine, University of California, San Diego, La Jolla, CA, USA; 7Pharmacology and Experimental Oncology Unit, Cancer Biology Department, National Cancer Institute, Cairo University, Cairo, Egypt; 8Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, 92093, USA; 9Department of Medicine, University of California, San Diego, La Jolla, CA, 92093, USA; 10Moores Cancer Center, University of California, San Diego, La Jolla, CA, 92093, USA

Correspondence: Samah A LoutfyVirology and Immunology Unit, Cancer Biology Department, National Cancer Institute, Fom El-Khalig, Cairo, 11796, EgyptTel +201222840964Email samaly183@yahoo.com

Background: Mouse mammary tumor virus (MMTV) is thought to have a role in human breast cancer (BC) pathogenesis. BRCA1 and 2 genes mutations are well-established risk factors for BC. The purpose of this study was to evaluate the presence of MMTV in familial and non-familial Egyptian breast cancer patients. We also aimed to establish a correlation between BRCAs genes mutations and MMTV infection in those patients.Patients and Methods: The study was included 80 BC patients and 10 healthy women were included as a control group. We used PCR to amplify a 250-bp MMTV-like env sequence. We also used PCR followed by direct sequencing to identify the genetic variation of exons 2, 13, 19 of BRCA1 gene and exon 9 and region f of exon 11 of BRCA2 gene. High resolution melting (HRM) analysis was used to screen the selected exons of BRCA1/2 genes in order to detect different variants.Results: MMTV DNA-like env sequences were detected in 70%, 76% of familial and non-familial BC patients, respectively, and it was not detected in any of the control subjects. The presence of viral sequences was associated with larger tumor size in the sporadic patients. Seventy BC patients showed variations in BRCA1/2 genes according to HRM analysis and sequencing analysis showed two different sequences of polymorphism among 22 familial and non-familial BC patients.Conclusion: MMTV DNA was present among BC patients and it was associated with increased tumor growth. This indicates a potential role for MMTV in BC patients with and without deleterious mutation in BRCA1/2 genes.

Keywords: breast cancer, MMTV, BRCA1/2, HRM, Egypt

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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MMTV-like env sequences and the association with BRCA1/2 | CMAR - Dove Medical Press