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Archive for the ‘Genetic medicine’ Category

Precision NanoSystems Receives $18.2 Million from the Government of Canada to Develop an RNA Vaccine for COVID-19 – Canada NewsWire

Friday, October 23rd, 2020

VANCOUVER, BC, Oct. 23, 2020 /CNW/ -Precision Nanosystems, Inc. (PNI), a global leader in technologies and solutions in genetic medicine, announced today that it has received a commitment of up to $18.2 million in support from the Government of Canada under the Innovation, Science and Economic Development's (ISED) Strategic Innovation Fund (SIF) to develop a COVID-19 vaccine. PNI will use the investment to advance a best-in-class COVID-19 mRNA vaccine candidate to clinical trials.

PNI provides over 250 industry and academic partners with solutions for the development of vaccines, gene therapies, and cell therapies, in the areas of infectious diseases, oncology and rare diseases. With this investment from the Government of Canada, PNI's Chief Scientific Officer, Dr. Andrew Geall, and his team will use their state-of-the-art technology platforms and expertise in self-amplifying mRNA vectors, lipid-based drug delivery systems and nanomedicine manufacturing to develop a cost-effective COVID-19 vaccine.

As part of Canada's efforts to combat COVID-19, the Strategic Innovation Fund is working diligently to support projects led by the private sector for COVID-19 related vaccine and therapy clinical trials to advance Canada's medical countermeasures in the fight against COVID-19. "An effective vaccine will be critical as we work to contain the COVID-19 virus and prevent future infections.Today's contribution will support PNI to advance the development of a mRNA vaccine candidate through pre-clinical studies and clinical trials to help protect Canadians," stated the Honourable Navdeep Bains, Minister of Innovation, Science and Industry.

Bringing together its proprietary technology platforms, key partnerships and unparalleled expertise in nanomedicines, PNI is excited to be leading the development of a Made-in-Canada COVID vaccine. James Taylor, CEO and co-founder of PNI said "Since its inception PNI has executed on its mission to accelerate the creation of transformative medicines. It is an honour to be supported by the Canadian government in this global fight against COVID-19 and to further build capabilities for rapid response against COVID-19 and future pandemics"

About Precision NanoSystems Inc. (PNI)

PNI is a global leader in ushering in the next wave of genetic medicines in infectious diseases, cancer and rare diseases. We work with the world's leading drug developers to understand disease and create the therapeutics and vaccines that will define the future of medicine.PNI offers proprietary technology platforms and comprehensive expertise to enable researchers to translate disease biology insights into non-viral genetic medicines.

SOURCE Precision Nanosystems

For further information: Jane Alleva, Global Marketing Manager, Precision NanoSystems, Phone: 1 888 618 0031, ext 140, mobile 1 778 877 5473

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Precision NanoSystems Receives $18.2 Million from the Government of Canada to Develop an RNA Vaccine for COVID-19 - Canada NewsWire


Be Biopharma, AavantiBio Launch With Millions in Financing to Support Therapeutic Goals – BioSpace

Friday, October 23rd, 2020

Its a day of firsts, with the launch of two new Cambridge, Mass.-based life sciences companies, Be Biopharma, with a focus on B cell malignancies, and AavantiBio, a gene therapy company aimed at treating rare genetic diseases.

AavantiBio launched with a $107 million Series A financing round, which includes not only a $15 million equity investment from Sarepta Therapeutics, but also an experienced executive in Alexander Bo Cumbo to helm the startup. The companys lead asset is a gene therapy treatment for Friedreichs Ataxia (FA), a rare inherited genetic disease that causes cardiac and central nervous system dysfunction.

AavantiBios gene therapy builds on the work of its co-founders, renowned gene therapy researchers Barry Byrne and Manuela Corti, who have researched FA and other genetic disorders. In addition to the foundational work of Byrne and Corti, the startup will also benefit from strategic partnerships with the University of Floridas renowned Powell Gene Therapy Center and the MDA Care Center at UF Health where Byrne and Corti maintain their research and clinical practices.

Cumbo, who spent eight years at Sarepta as chief commercial officer, will serve as the first chief executive officer of AavantiBio. He said his time at Sarepta has been incredibly rewarding as that company emerged as a pioneer in treating Duchenne muscular dystrophy and limb-girdle muscular dystrophy patients and ultimately transformed into a genetic medicine leader.

It has been a privilege to contribute to this growth and play a role in serving these communities. As I look ahead to the bright future of AavantiBio and the exciting opportunity to lead this innovative company, this same dedication to serving unmet patient needs and to leveraging deep scientific expertise will be core to our mission. I am also thrilled to continue to collaborate with the talented team at Sarepta, said Cumbo, who will continue to serve as an adviser to Sarepta through the end of 2020.

Sarepta CEO Doug Ingram praised Cumbos work over the past eight years and said he built a first-in-class rare disease commercial organization. As a partner with AavantiBio, Ingram said he looks forward to a continued relationship with Cumbo and AavantiBios efforts to advance therapies for FA and other rare diseases.

In addition to Sarepta, AavantiBios Series A was supported by Perceptive Advisors, Bain Capital Life Sciences and RA Capital Management.

Be Biopharma launched with a $52 million Series A financing round. The company will use the funds to engineer B cells to treat a range of diseases. B cells are prolific protein producers that can be collected from peripheral blood, have a programmable lifetime that could last decades, can target specific tissues, and have broad, customizable functionality.

The company intends to build on the work of co-founders David Rawlings and Richard James conducted at Seattle Childrens Research Institute. Rawlings said the goal is to build new class of engineered B cell medicines that will provide direct control over the power of humoral immunity and transform the prognosis for patients who currently have limited treatment options.

Be Biopharma is helmed by David Steinberg, a co-founder of the company and a partner at Longwood Fund, one of the supporters of the Series A.

Be Bio is capitalizing on the unique attributes of B cells to create a new category of medicine that is distinct from traditional cell or gene therapy. B cells can be engineered to express a wide variety of proteins, have the potential to generate durable responses, and can be dose-titrated and administered multiple times without the need for toxic preconditioning, Steinberg said in a statement. Moreover, the varied functions of B cells suggest that B cell medicines can address a range of conditions including autoimmune diseases, cancer, and monogenic disorders, as well as enhance the immune response to infectious pathogens. We believe Be Bio is at the forefront of a new approach to fighting disease.

In addition to Longwood Fund, the Series A financing round was supported by investment leaders Atlas Venture and RA Capital Management. Alta Partners and Takeda Ventures also supported the financing round.

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Be Biopharma, AavantiBio Launch With Millions in Financing to Support Therapeutic Goals - BioSpace


Use of Genetic Sequencing to Track SARS-CoV-2 Mutations Can Improve Diagnostic Testing Accuracy and Vaccine Effectiveness – HospiMedica

Friday, October 23rd, 2020

Scientists are tracking the SARS-CoV-2 virus that causes COVID-19 by sequencing the genome of virus samples collected from diagnostic testing. Using next generation sequencing on SARS-CoV-2 will help accurately diagnose the novel coronavirus, identify mutations and track its history.

A study by scientists at the UNC School of Medicine (Chapel Hill, NC, USA) has shown how next generation genetic sequencing can track mutations in the SARS-CoV-2 virus, which can in effect help with transmission tracing, diagnostic testing accuracy and vaccine effectiveness. This type of virus monitoring is also important in diagnostic testing. Much of the testing developed to diagnose COVID-19 looks for one portion of the gene sequence that causes the novel coronavirus. If that sequence mutates, the test is no longer accurate and results will be affected.

Their recent study is the largest to focus on suburban and rural communities in which the researchers were able to reconstruct the mutational landscape of cases seen at the UNC Medical Center. Within their study, the team of scientists did find variations in the virus genetic sequence, but fortunately none of the variations were located in the portion of the virus targeted in common diagnostic testing. 175 samples from confirmed COVID-19-positive patients were analyzed, out of which 57% carried the spike D614G variant noted in similar studies. The presence of this variant is associated with a higher genome copy number and its prevalence has expanded throughout the pandemic.

The researchers will continue using NGS to track the SARS-CoV-2 virus through the remainder of 2020. The goal is to enroll every patient at UNC Hospitals with flu or respiratory symptoms for COVID-19 diagnostic testing. These samples will be sequenced and compiled to form a comprehensive profile of any virus that these patients carry, information that will continue to help a community of researchers in their fight against SARS-CoV-2 and potentially novel coronaviruses.

We are concerned about future mutations though, said Dirk Dittmer, PhD, professor of microbiology and immunology at the UNC School of Medicine, and senior author of the study. It is inherent in a virus nature to mutate. Changes in other areas of the genetic sequence can not only disrupt testing, but hinder the effectiveness of vaccines.

Because we are only looking at one gene sequence for the virus, we have told the FDA that we will continually monitor for changes in this gene sequence so that we can be assured that our test is still reliable, said Melissa Miller, PhD, director of UNC Medical Center Microbiology and Molecular Microbiology Laboratories, and a co-author of the study. NGS will help us do that.

Related Links:UNC School of Medicine

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Use of Genetic Sequencing to Track SARS-CoV-2 Mutations Can Improve Diagnostic Testing Accuracy and Vaccine Effectiveness - HospiMedica


Baby Gets Early Stem Cell Transplant to Treat Rare Disease Thanks to Newborn Screening – University of Michigan Health System News

Friday, October 23rd, 2020

At birth, Minette looked perfectly healthy, and her parents took their 7 pound, 9- ounce, brown-eyed baby girl home thinking all was well.

But her newborn screening test revealed something different.

The results indicated Minette had a rare lysosomal storage disease known as mucopolysaccharidosis type I, or MPS-1. Babies usually dont show any symptoms at birth, but the condition is progressively debilitating, eventually causing permanent damage to mental development, organ function and physical abilities.

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And at nine days old in January, 2019, after a series of tests run by the newborn screen follow up team in pediatric genetics at Michigan Medicine C.S. Mott Childrens Hospital, Minette was officially diagnosed with MPS-1.

There were no signs of this disease during pregnancy or after her birth, says her mother Samantha Mejia, of West Bloomfield, Mich.

It was so important that we identified it early so she could get treatment that would give her a better chance of living a more normal life.

MPS-1 means the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules (glycosaminoglycans) within structures called lysosomes. Lysosomes are essentially the bodys recycling centers large molecules go in and come out small enough so the body can use them.

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When these molecules cant be broken down, they build up in the cell, causing many organs and tissues of the body to become enlarged, damaged and unable to work properly. Some children may develop mild to moderate mental impairment or learning difficulties, respiratory problems, sleep apnea and heart disease.

In severe cases like Minettes, children stop developing between ages 2-4, which is followed by progressive mental decline including loss of physical abilities and language skills.

MPS-1 was added to the Michigan newborn screen in August, 2017 just a little more than a year before Minette was born joining a list of more than 50 disorders that can now be detected through a simple blood test after birth.

Prior to being added to the newborn screen, many children were often diagnosed between ages one-and-a-half and three years old because they start losing developmental milestones or begin showing certain facial features as a result of glycosaminoglycans storage, such as thickened nostrils, lips or ears.

The clinical diagnosis of MPS-1 is often delayed because the symptoms tend to be non-specific early on. Newborn screening is crucial for making an early diagnosis and initiating treatment, which significantly alters the long term outcomes for patients, says Rachel Fisher, pediatric genetic counselor at Mott and a lysosomal storage disorder newborn screen coordinator for the state of Michigan.

Because of Minettes early diagnosis, her Mott care teams could quickly take next steps for treatment. She started enzyme therapy within six weeks, and at three months of age underwent four days of chemotherapy before ultimately getting a hematopoietic stem cell transplant to help replace the enzyme her body was missing.

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Baby Gets Early Stem Cell Transplant to Treat Rare Disease Thanks to Newborn Screening - University of Michigan Health System News


Comprehensive Genomic Analysis in Some Patients With Breast Cancer Reveals Rare, Pathogenic TP53 Variant in Families of Ashkenazi Jewish Descent -…

Friday, October 23rd, 2020

The American College of Medical Genetics currently recognizes a wide range of germline variants in the gene TP53 as pathogenic or likely pathogenic and causing the inherited disorder, Li-Fraumeni Syndrome.1 Cancers strongly associated with Li-Fraumeni syndrome include common and rare malignancies such as breast cancer, adrenocortical carcinoma, and osteosarcoma, and are normally diagnosed in patients at much younger ages than the average age of diagnosis for the general population.

In July 2020, a team of multidisciplinary researchers led by clinician-scientists at the Abramson Cancer Center at Penn Medicine, Philadelphia, added to the understanding of pathogenic TP53 variants with the publication of study in which they identified a rare, novel variant implicated in the development of Li-Fraumeni syndrome predominantly in families of Ashkenazi Jewish descent.2

Nonpathogenic p53 protein is composed of 4 major protein domains: transactivation, proline-rich, DNA-binding, and tetramerization, and is a transcription factor that activates transcription of genes encoding DNA repair machinery in healthy cells.1 Because p53 functions as a transcriptional regulator, pathogenic mutations in TP53 are most commonly observed in sequences encoding the DNA binding domain, causing the mutant p53 protein to lose its normal capacity to bind to target promoter sequences for transcriptional activation.1 Unlike more common pathogenic mutations in the DNA binding domain, the novel variant, c, 1000G>C;p. G334R, is a pathogenic missense mutation in the tetramerization domain of p53, resulting in disruption of the normal tetramerization of p53 polypeptides required to assume its native structure in wild-type carriers.2

A well-documented example of a pathogenic germline mutation in the tetramerization domain of p53 occurs in 0.3% of the general population in Southern Brazil, where a spectrum of early onset cancers was also observed in the population and confirmed as Li-Fraumeni Syndrome.3

Discovery of the novel pathogenic variant began with a research sequencing study at Abramsons Cancer Center aimed at identifying breast cancer susceptibility genes in patients with early-onset disease who were negative for germline pathogenic BRCA1/2 variants.4 Additional families with the TP53 c. 1000G>C; G334R variant were then identified from national databases and testing sites such as the National Society of Genetic Counselors ListServ and commercial genetic testing lab cases such as Ambry Genetics.

The researchers case-ascertainment database analyses resulted in a final total of 21 cases of early-onset cancer carrying the novel pathogenic TP53 variant.2 To further validate the pathogenicity of the novel variant, a team of multidisciplinary researchers utilized criteria in the 2015 ACMG/AMP Variant interpretation guidelines to evaluate predictive computational modeling of the mutant protein and in-vitro functional data of the mutant p53 in cells line.1,2

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Comprehensive Genomic Analysis in Some Patients With Breast Cancer Reveals Rare, Pathogenic TP53 Variant in Families of Ashkenazi Jewish Descent -...


UNC Researchers Identify Genetic Variant Linked to Drug-Induced Hypertension with Avastin – PRNewswire

Friday, October 23rd, 2020

CHAPEL HILL, N.C., Oct. 22, 2020 /PRNewswire/ -- In the largest study of its kind, researchers from the University of North Carolina at Chapel Hill (UNC) have discovered a genetic variant that can be used to predict if patients will develop hypertension from the widely used cancer drug Avastin (generic name bevacizumab). The groundbreaking work is being presented this weekend by the lead researcher, Dr. Federico Innocenti, during a plenary session at the 32nd EORTC-NCI-AACR Symposium on Molecular Targets and Cancer Therapeutics. The presentation can be viewed on Sunday, October 25th at 9:45 ET on the Conference website.

VEGF inhibitors like Avastin have revolutionized cancer treatment and have been used by millions of patients. Because they target blood vessel growth and regulation, the most common and severe side effects are usually cardiovascular-related. Currently, there is no way to predict who is likely to experience these serious and potentially fatal adverse events, which can develop quickly and often require stopping or modifying treatment.

After analyzing thousands of genomic variations from over 1,000 Caucasian cancer patients across five independent clinical trials the researchers identified a genomic variant that appears twice as often in patients with hypertension than without it, and is present in over a quarter of hypertension cases. These results suggest the return on testing for this variant is very high. When assessing how many people need to be tested to avoid one severe event, the number is only 34 for Caucasian patients. If confirmed in patients of African ancestry, the number drops to just 9, given the much higher occurrence of the variant (80%+) in this population.

William R. Sellers,Professor of Medicine at the Dana-Farber Cancer Institute, who is co-chairof the Conference and not involved with the research said, "Side effects from bevacizumab can be debilitating; a simple genetic test to identify which patients will experience toxicities could help provide better and more effective treatments for our patients." Dr. Federico Innocenti, Associate Professor at UNC who led the research added, "Early identification is a potential double win. It will first help doctors identify patients at a higher risk of hypertension induced by Avastin. Then, for example, these patients can receive closer monitoring or prophylactic treatment, allowing them to continue their cancer treatment uninterrupted."

With support from the research group Emerald Lake Safety, efforts are currently underway to start a prospective study that will provide doctors with a free test to screen patients and update their treatment regimens as necessary. "Interested clinicians should contact me," says Dr. Innocenti.

Press Contact:

FedericoInnocenti, MD, PhD[emailprotected](949) 257-2074

SOURCE Federico Innocenti, MD, PhD

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UNC Researchers Identify Genetic Variant Linked to Drug-Induced Hypertension with Avastin - PRNewswire


Global Population Sequencing Markets, 2020-2030 – Rising Adoption of Large-Scale Sequencing to Understand the Genomics of Susceptibility and…

Friday, October 23rd, 2020

DUBLIN--(BUSINESS WIRE)--Oct 23, 2020--

The "Global Population Sequencing Market: Focus on Product, Method, Technology, Application, Country, and Competitive Landscape - Analysis and Forecast, 2020-2030" report has been added to's offering.

The population sequencing market is projected to reach $64,047.6 million by 2030 from $21,730.4 million in 2020, at a CAGR of 11.41% during the forecast period, 2020-2030.

Growth in this market is expected to be driven by the rising adoption of large-scale sequencing to understand the genomics of susceptibility and resistance from COVID-19, increasing adoption of personalized medicine for the screening and diagnosis of genetic disorders, and a global surge in direct-to-consumer genetic testing.

However, there are significant challenges that are restraining the market growth, such as lack of infrastructure to maintain, store, and share sensitive genomic data, absence of sufficient funding for the development of high-throughput genomic software tools, and poor reducibility and transability of data in clinical practice.

The market is favored by the technological advancements in the sequencing, and computational analysis solutions for a large volume of genetic data enabling a deep understanding of the genetic variants for the development of diagnostics, drug discovery, and translational research.

Furthermore, several sequencing companies are focusing on the development of high-throughput sequence platforms and polymerase chain reaction platforms, with higher sensitivity and low turn-around time to benefit the patients, enabling patient-based outcomes and implementing genomic medicine.

Within the research report, the market is segmented on the basis of product type, application, methods, and technology. 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 Landscape

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

The population sequencing market provided immense growth opportunities for the companies providing technology and infrastructure for large-scale health initiatives, such as Color Genomics, Inc., Helix Opco, LLC, and big data companies such as Genuity Science.

Key Questions Answered in this Report:

Key Topics Covered:

Executive Summary

1 Product Definition

1.1 Definition by Product

1.1.1 Platforms

1.1.2 Kits and Assays

1.1.3 Software Tools

1.2 Inclusion and Exclusion

1.2.1 Inclusion and Exclusion for Country-Wise Market Estimation

1.3 Scope of Work

1.4 Key Questions Answered in the Report

2 Research Methodology

3 Introduction

3.1 Market Overview

3.2 Impact of COVID-19 on Population Sequencing

3.3 Future Potential

4 Global Population Sequencing Market Dynamics

4.1 Overview

4.2 Impact Analysis

4.3 Market Drivers

4.3.1 Rising Adoption of Large-Scale Sequencing to Understand the Genomics of Susceptibility and Resistance from COVID-19

4.3.2 Increasing Adoption of Personalized Medicine for the Screening and Diagnostics of Genetic Disorders

4.3.3 Global Surge in Direct-to-Consumer (DTC) Genetic Testing

4.4 Market Restraints

4.4.1 Lack of Infrastructure to Maintain, Store and Share Sensitive Genomic Data

4.4.2 Absence of Sufficient Funding for Development of High-Throughput Genomic Software Tools

4.4.3 Poor Reducibility and Translatability of Data in Clinical Practice

4.5 Market Opportunity

4.5.1 Advancing Precision Medicine with Blockchain-Powered Artificial Intelligence

4.5.2 Technological Advancements in Sample Preparation for Population Sequencing

4.5.3 Increased Population Engagement and Data Management

5 Competitive Landscape

5.1 Key Strategies and Developments

5.1.1 Product Approval

5.1.2 Product Launches and Upgradations

5.1.3 Synergistic Activities

5.1.4 Funding and Expansion

5.1.5 Acquisitions

5.1.6 Other

6 Industry Insights

6.1 Overview

6.2 Legal Requirements and Framework in the U.S.

6.3 Legal Requirements and Framework in Europe

6.4 Legal Requirements and Framework in Asia-Pacific

6.4.1 Japan

6.5 Market Share Analysis (by Company) 2019

6.5.1 Growth Share Analysis (Opportunity Mapping)

6.5.2 By Company

7 Global Population Sequencing Initiatives (by Country)

8 Global Population Sequencing Market (by Product), $Million, 2019-2030

8.1 Introduction

8.2 Kits and Assays

8.3 Platforms

8.4 Software Tools

9 Global Population Sequencing Market (by Methods), $Million, 2019-2030

9.1 Introduction

9.2 Whole Genome Sequencing

9.3 Whole Exome Sequencing

9.4 Single-Read Sequencing

9.5 Other Sequencing Methods

10 Global Population Sequencing Market (by Technology), $Million, 2019-2030

10.1 Introduction

10.2 Polymerase Chain Reaction (PCR)

10.3 Next Generation Sequencing (NGS)

10.4 Other Technologies

11 Global Population Sequencing Market (by Application), $Million, 2019-2030

11.1 Introduction

11.2 Human health

11.2.1 Clinical Applications Diagnostics Cancer Diagnostics Infectious Disease Diagnostics Rare Disease Diagnostics Other Diagnostics Drug Discovery and Development

11.2.2 Translational Research Sequencing

11.3 Molecular Forensics

11.4 Blockchain in Genomics

11.4.1 Data Sharing and Monetization

11.4.2 Data Storage and Security

11.4.3 Automated Health Insurance

12 Global Population Sequencing Market (by Country), $Million, 2019-2030

13 Company Profiles

13.1 Company Overview

13.2 Role of Agilent Technologies, Inc. in Global Population Sequencing Market

13.3 Financials

13.4 Key Insights About Financial Health of the Company

13.5 SWOT Analysis

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Global Population Sequencing Markets, 2020-2030 - Rising Adoption of Large-Scale Sequencing to Understand the Genomics of Susceptibility and...


Getting to the Roots of Fragile X Syndrome – Tufts Now

Friday, October 23rd, 2020

The cause of fragile X syndrome (FXS), the most common inherited intellectual disability, is easy to see in the lab. Under electron microscopy, an affected X chromosome exhibits a deformed tip that gives the disorder its name and pinpoints the causative gene malfunction. Theres no cure for the disease, whose symptoms include learning deficits and hyperactivity and which has been linked with autism. FXS occurs in 1 in 4,000 to 7,000 males and 1 in 8,000 to 11,000 females in the United States.

Most research on FXS has focused on the brains neurons, the cells that transmit electrical and chemical impulses. But for a decade Yongjie Yang, associate professor of neuroscience at Tufts University School of Medicine, has pursued a different path, investigating the involvement of glia cells, particularly astroglia, which support neuron function and make up more than half the brain. In the past month, hes published in the Proceedings of the National Academy of Sciences (PNAS) and Glia. Tufts Now spoke with Yang about his work.

Tufts Now: What do we know about FXS?

Yongjie Yang: Fragile X syndrome is caused by the mutation of a single gene, FMR1, that codes for the FMRP protein, which is found in all brain cells and is essential for normal cognitive development. The mutation doesnt actually change the genetic code. Instead it causes part of the gene, specifically the chemical bases CGG, to repeat. We all carry those repeats in different numbers. If you carry roughly 50 or fewer, your brain development will be normal, but if the repeats go beyond 200, you will have the full mutation and your brain will produce only 10 to 20 percent of the needed level of FMRP, especially if youre male. FXS was characterized in 1943 but the genetic mutation wasnt identified until 1991, almost half a century a later.

What is the relationship between autism spectrum disorder (ASD) and FXS?

The two are intermingled. ASD is much more common, occurring in 1 in 54 children according to new estimates. Its believed that 1 to 6 percent of people with ASD have the FXS mutation, and that mutation accounts for the largest genetic subset of those with ASD. Many people with FXS are also autistic. FXS is a learning and intellectual disability, while ASD includes a wide range of social and communications challenges.

What are the key findings of your most recent research?

The study in Glia shows that some physical symptoms of FXS can be induced in mice by eliminating FMRP from astroglia alone. So in thinking about gene therapy for FXS, we need to consider glia cells, not just neurons. Our PNAS paper is exciting because it defines a unique, distinct FMRP-dependent pathway in mouse and human astroglia that regulates communications from astroglia to neurons through mGluR5, an important receptor for glutamate, the neurotransmitter that triggers brain activity. Interestingly, this regulation pathway isnt found in neurons. Its also the first study to demonstrate how overall protein expression is changed in FMR1-deficient astroglia. Unveiling astroglia-specific molecular mechanisms involved in FXS development could give us new targets for potential therapeutics.

Whats next?

We want to better understand the pathophysiology of FXS and identify new avenues for drugs and other interventions to attenuate the effects of the disease. Of course gene therapy would be wonderful but it often takes a long, long time and carries a lot of risk. Most other studies have focused on the neuron side, and drug trials based on these studies have failed so far. Our glia/astroglia perspective gives a fresh view to search for new targets.

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Getting to the Roots of Fragile X Syndrome - Tufts Now


WCM-Q Student Researchers Probe Effects of COVID-19 on Pregnancy – Al-Bawaba

Friday, October 23rd, 2020

Two medical students at Weill Cornell Medicine-Qatar (WCM-Q) have conducted a systematic review of the latest medical literature to provide a clearer understanding of how the novel coronavirus affects pregnant women, new mothers and newborn babies.

Second-year students Reem Chamseddine and Farah Wahbeh reviewed 245 pregnancies that were complicated by maternal SARS-CoV-2 infection across 48 scientific studies published between the emergence of the pandemic in December 2019 and July 30, 2020. They found that 55.9 percent of the pregnant women with SARS-CoV-2 infection presented with fever and 36.3 percent with a cough. A total of 12.7 percent presented with shortness of breath, but only 4.1 percent developed respiratory distress.

The vast majority (89 percent) of the pregnant women with SARS-CoV-2 delivered their babies via cesarean section, compared with 15 percent in the general population, the study noted. Out of 201 newborns reported in the literature, 35.3 percent of babies born to mothers with SARS-CoV-2 were delivered pre-term (before 36 weeks), compared with 13 percent in the general population. There was a concerning 2.5 percent rate of stillbirth delivery or neonatal death, compared with less than one percent in the general population. However, the study indicated that the risk of death for pregnant women with SARS-CoV-2 is low, and that it does not appear that the infection is vertically transmitted from mother to fetus during pregnancy, although 6.45 percent of newborns tested positive for the disease. It is possible these newborns acquired SARS-CoV-2 infection in the hospital or at home after birth, according to the literature.

The study also found that SARS-CoV-2 does not appear to be passed from mother to baby in breast milk, but that there is still a risk the infection can be passed on via respiratory droplets during breastfeeding. As such, SARS-CoV-2-positive mothers are advised to take reasonable precautions during breastfeeding.

The study, titled Pregnancy and Neonatal Outcomes in SARS-CoV-2 Infection: A Systematic Review, has been published in theJournal of Pregnancy, a leading peer-reviewed open-access journal.

Student Reem Chamseddine, a member of WCM-Qs Class of 2023, said: In the early days of the pandemic, not much was known regarding pregnancy complications in the setting of SARS-CoV-2 infection. Naturally, it was important to understand the emerging data about this topic as the virus would affect thousands of pregnant women. As medical students, we are encouraged to be curious and to engage in the healthcare issues around us. Getting to work on this project is an example of the academic values instilled in us here at WCM-Q.

Farah Wahbeh, also a member of the Class of 2023, said: The role of a medical student does not stop at learning how to diagnose and treat medical conditions; it is also our responsibility to take action during such uncertain times and to contribute in every way we can. This experience has been unique given the urgency and time sensitivity associated with the project. It taught us valuable skills and embodied our role as active contributors to the scientific community.

Reem and Farah were mentored during the research process by Dr. Arash Rafii Tabrizi, Professor of Genetic Medicine in Obstetrics and Gynecology at WCM-Q, who is also a named author of the research paper.

Dr. Tabrizi, who is also Director of the Clinical Research Support Core at WCM-Q, said: I was really impressed by the desire of our students to be part of the fight against COVID-19. In the early stages of the emergence of a new virus and a new disease there is a tremendous fear of the unknown and therefore an urgent need for evidence-based information. As such, the work of Reem and Farah perfectly illustrates one of the most important elements of our mission as doctors: we have to provide accurate information to allow people to adopt the correct attitude and actions to protect themselves and others.

He added: The work was difficult as new information was coming in almost every day and Reem and Farah had to filter and organize it correctly. The final result is a great review that really illustrates the impact of COVID-19 on the pregnant women as well as their newborn babies.

The review can be read in full here:

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WCM-Q Student Researchers Probe Effects of COVID-19 on Pregnancy - Al-Bawaba


Repurposing and Combining Drugs An Effective Cancer Treatment Strategy – Technology Networks

Friday, October 23rd, 2020

Dr Robert Nagourneyis the founder and medical director of Nagourney Cancer Institute, and clinical professor at the University of California, Irvine School of Medicine. Nagourney is having success investigating whether a unique combination of existing and approved cancer drugs might be more effective compared to off-the-shelf treatments. Technology Networks recently had the pleasure of speaking with Nagourney to learn more about his work focused on repurposing drugs. He discusses the challenges and benefits of exploring new uses for drugs that are outside the scope of their original indication. He also shares a case whereby a cancer patient was recently treated with a tailored drug combination and explains how it was possible to design an effective personalized treatment strategy.Laura Lansdowne (LL): Can you touch on the importance of physiological relevance when testing therapeutics inin vitrosystems, has there been any key advances in cell culture technologies that have been particularly effective at improving this?Robert Nagourney (RN): The wide use of genomic profiling by next-generation sequencing (NGS) has provided targetable mutations in a number of cancers including chronic myeloid leukemia (CML), several forms of lung cancer, kidney cancersand melanoma. However, the majority of human tumors do not reveal actionable mutations. Today these tumors are treated with cytotoxic chemotherapy or experimental drugs with no attempt to select among options and offer combinations that are patient specific. To address patients needs we developed the Ex Vivo Analysis of Programmed Cell Death or EVA/PCD platform.Two fundamental advances have led to the successful application of our EVA/PCD technology for the prediction of patient response over older technologies.

LL: Could you tell us more about your work repurposing drugs?RN: Drugs do not know what diseases they were invented for. This not only applies to drugs for cancer but to other drugs with biological effect that can influence cancer cell behavior.LL: In yourblogyoushare the story of a Stage 4 gastroesophageal cancer patient that was recently treated with a tailored drug combination. Could you elaborate on the genetic clue that helped design an effective combination therapy?RN: The patient was found sensitive to a drug that targets EGFR a cell signaling pathway. However,he did not have a mutation in EGFR. As such his doctors did not anticipate a likelihood of benefit from drugs that target EGFR and did not offer him these agents. In our EVA/PCD we found activity for these drugs. When we reviewed his gene profile it showed an EGFR amplification (not a mutation). Since EGFR amplificationis not considered a target, no drug was offered but with thediscriminating (functional) capability of the EVA/PCD assay, he indeed was that rare person with an EGFR amplification who would actually likely respond and when we gave it to him he did Completely!LL: When repurposing a drug, how careful do we need to be when considering existing safety and efficacy data? E.g. data that were obtained in previous studies, fordifferentindications, in adifferentstudy population (age/sex/ethnicity, etc.).RN: Any novel combination runs some risk, but many repurposed drugs are already in wide use, and very often are used in combination with many other drugs. I am not a proponent of random combinations (however many commercial firms do offer them) but instead like to examine the patient's likelihood of benefit when we do suggest a drug or combination.LL: What measures/approaches should be taken when considering off-label use of a drug?RN: Usually these drugs are well known for their modes of action and toxicity. The literature provides ample information on drugdrug interactions and usually can be consulted if an unusual combination is being considered.LL: There is currently no regulatory requirement to know the molecular target of a drug, as long the drug is shown to be safe and efficacious. How much of a drawback does this gap in knowledge present, in terms of repurposing existing drugs for other indications?RN: Actually, many new drugs come with companion diagnostics. That is, you can only get a TRK inhibitor if you are shown to carry and NTRK fusion. Where functional platforms can be immensely helpful is the vast amount of genomic regulation and cellular gene activity that cannot be identified at a genetic level.One perfect example in the oncogene MYC. This super-regulator that functions epigenetically is abnormally active in up to 70% of cancers, it regulates over 3600 individual human genes (15% of the human genome) and isalmost never mutated ever. Thus, it is only by probing its activities at a functional level that you know to target it therapeutically. Gene profiles are useless.Robert Nagourney was speaking with Laura Elizabeth Lansdowne, Senior Science Writer for Technology Networks.Interviewee BiographyDr Nagourney is a native of Connecticut and a graduate of McGill University School of Medicine and became disenchanted with the trial and error approach that he witnessed during fellowships at Georgetown and The Scripps Institute.Nagourney is currently a practicing oncologist and triple board certified in Internal Medicine, Medical Oncology and Hematology. Among his many accomplishments, as co-investigator on national cooperative trials. He is recognized for the introduction of Cisplatin/Gemcitabine doublets in the treatment of advanced ovarian and breast cancers.With more than 20 years of experience in human tumor primary culture analyses, Dr Nagourney has authored more than 100 manuscripts, book chapters and abstracts including publications in the Journal of Clinical Oncology, Gynecologic Oncology, the Journal of the National Cancer Institute and British Journal of Cancer.

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Repurposing and Combining Drugs An Effective Cancer Treatment Strategy - Technology Networks


Alnylam Presents Positive Results from ILLUMINATE-B Phase 3 Study in Pediatric Patients with Primary Hyperoxaluria Type 1 at the American Society of…

Friday, October 23rd, 2020

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, announced today positive results from the 6-month primary analysis of the ILLUMINATE-B Phase 3 pediatric study of lumasiran, an investigational, subcutaneously administered RNAi therapeutic targeting hydroxyacid oxidase 1 (HAO1) the gene encoding glycolate oxidase (GO) in development for the treatment of adults and children with primary hyperoxaluria type 1 (PH1). Results were presented from ILLUMINATE-B, as well as new 12-month results from the ILLUMINATE-A pivotal Phase 3 study and the ongoing Phase 2 open-label extension (OLE) study, at the American Society of Nephrology (ASN) Kidney Week 2020 held as a virtual event on October 22-25.

Lumasiran is under review by the Food and Drug Administration (FDA) and received a Positive Opinion from the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) on October 16, 2020. If approved, lumasiran will be marketed as OXLUMOTM.

We are delighted to present these positive data from ILLUMINATE-B that reinforce previously reported clinical study findings for lumasiran and underscore its potential to be an important treatment option for patients of all ages with PH1, a devastating and potentially fatal disease with no approved pharmaceutical treatment options, said Pritesh J. Gandhi, PharmD., Vice President and General Manager, Lumasiran Program at Alnylam. Based on longer term follow-up from the ILLUMINATE-A and Phase 2 open-label extension studies, investigators presented data showing enduring reductions of urinary oxalate the disease-causing metabolite in PH1. Moreover, we believe that newly presented results of exploratory endpoints provide preliminary evidence that reductions in urinary oxalate may lead to reduced rates of renal stone events and improve nephrocalcinosis in some patients.

Pathologic overproduction of oxalate by the liver is the root cause of morbidity and mortality associated with PH1. There is strong evidence in the literature to suggest that levels of urinary oxalate correlate with clinical outcomes in patients with this ultra-rare disease. With that in mind, I am pleased to see the reduction in urinary oxalate levels in response to lumasiran in all three studies presented at this years meeting. More broadly, I am encouraged by the promise that these findings hold for my patients living with this condition, said Jeffrey M. Saland, M.D., Professor and Chief, Pediatric Nephrology and Hypertension, Jack and Lucy Clark Department of Pediatrics, Mount Sinai Kravis Childrens Hospital, New York City, and Investigator on the ILLUMINATE-A trial. With the sustained reductions in urinary oxalate during long-term treatment and the exploratory renal stone and nephrocalcinosis data presented, I am hopeful about the potential of lumasiran to have a positive impact on the severe clinical manifestations that individuals with PH1 suffer.

ILLUMINATE-B 6-Month Results

Alnylam presented positive efficacy and safety results from the 6-month primary analysis (N=18) of the ILLUMINATE-B Phase 3 study of lumasiran in infants and children under the age of 6, with the youngest patient enrolled at 3 months of age. The efficacy results and safety profile of lumasiran were found to be similar to those observed in adults and children 6 years or older in the ILLUMINATE-A study. Treatment with lumasiran in ILLUMINATE-B led to a 72 percent mean reduction in spot urinary oxalate:creatinine ratio from baseline to Month 6, averaged across months 3 to 6 the primary endpoint of the study. Lumasiran also demonstrated positive results across secondary endpoints, including proportion of patients (9/18 or 50 percent) achieving urinary oxalate levels at or below 1.5 times ULNa.

Preliminary analysis of exploratory endpoints indicated improvements in nephrocalcinosis in 8 out of 18 patients (44 percent), while estimated glomerular filtration rates (eGFR) remained stable. At baseline, 14 of 18 patients had nephrocalcinosis. After 6 months of lumasiran treatment, no patients worsened, 10 remained stable, and eight showed bilateral (3 out of 8) or unilateral (5 out of 8) improvements in nephrocalcinosis. As expected, given the 6-month duration of the study, there was no change in the rate of renal stone events (RSEs)b .

Lumasiran had an acceptable safety profile in infants and young children under the age of six. There were no deaths, severe adverse events, discontinuations of treatment or withdrawals from the study. One patient had a serious adverse event (SAE) of viral infection that was considered not related to lumasiran by the study investigator. The most common drug-related adverse events (AEs) were mild and transient injection site reactions (ISRs) reported in 3 of 18 (17 percent) patients. No clinically relevant changes in laboratory measures (including liver function tests), vital signs, or electrocardiograms related to lumasiran were observed.

ILLUMINATE-A 12-Month Results

As of the data cut-off date of May 1, 2020, results from the extension period of the ILLUMINATE-A Phase 3 study showed that patients initially randomized to lumasiran in the 6-month double-blind (DB) period who continued treatment with lumasiran through Month 12 (lumasiran/lumasiran; N=24) maintained their reduction in 24-hour urinary oxalate excretion, with a 64 percent mean reduction relative to baseline. The majority (88 percent) of patients in this group reached normal or near-normal levels (at or below 1.5x ULN)a of urinary oxalate. In patients who were originally randomized to placebo in the DB period but crossed over to lumasiran (placebo/lumasiran; N=13), treatment with lumasiran led to a 57 percent mean reduction in 24-hour urinary oxalate excretion after six months of treatment; 77 percent of these patients reached urinary oxalate levels at or below 1.5 x ULN.

In an exploratory analysis, reductions in oxalate levels were associated with lower rates of RSEb in lumasiran treated patients in both lumasiran/lumasiran and placebo/lumasiran groups.

The safety profile of lumasiran remained consistent with ongoing dosing (233 doses) and 9.9 months of mean exposure (range 2.8-15.1 months). There were no deaths, SAEs, treatment interruptions or discontinuations related to lumasiran. One patient had an SAE of urosepsis that was not related to study drug. Mild ISRs were the most common drug-related AE reported in at least 10 percent of patients. Most common ISR symptoms included erythema, pain, pruritus, or swelling at the injection site. No clinically relevant changes in laboratory measures (including liver function tests), vital signs, and electrocardiograms related to lumasiran were observed.

Phase 2 OLE Results

Additional positive data were also presented from the ongoing Phase 2 OLE study of lumasiran demonstrating the long-term efficacy and safety of lumasiran with up to 22 months of exposure (range: 11-22 months; median: 15 months). As of January 30, 2020, data cut-off date, patients continued to experience sustained reductions in urinary oxalate excretion, with similar responses across dosage regimens. Specifically, ongoing treatment with lumasiran resulted in 74 percent (range: 35.788.3 percent) mean maximal reduction in urinary oxalate relative to Phase 1/2 baseline (N=17), and 17/18 (94 percent) of patients achieved normal or near-normal levels of urinary oxalate. Mean eGFR levels remained stable over time.

Lumasiran had an acceptable safety profile. There were no deaths, severe AEs, or AEs leading to discontinuation of treatment. There were no drug-related SAEs. The most common drug-related AEs were mild ISRs. No clinically significant laboratory changes related to lumasiran were reported.

Post-hoc analysis of renal stones showed that long-term treatment with lumasiran resulted in a decline in the number of patients experiencing renal stones. In the 12 months prior to study entry, 6/20 patients (30 percent) reported renal stones. In the Phase 1/2 Part B study where renal stones were captured as AEs, 4/20 patients (20 percent) reported AEs of renal stones during the initial 5-month period, and no patients (0/20) reported AEs of renal stones during the Phase 2 OLE with up to 22 months of treatment.

Additional findings on real-world disease manifestations and healthcare resource use among patients with PH1 were also presented based on a retrospective multinational study of physician chart reviews.

To view all data presented by Alnylam at ASN Kidney Week, please visit

Lumasiran has received U.S. and EU Orphan Drug Designations, Breakthrough Therapy and Rare Pediatric Disease Designations from the FDA, and a Priority Medicines (PRIME) designation from the EMA. Alnylam has filed a New Drug Application (NDA) for lumasiran with the FDA, which has granted a Priority Review for the NDA and has set an action date of December 3, 2020 under the Prescription Drug User Fee Act (PDUFA). Following the recent Positive Opinion from the CHMP, the Company plans to initiate commercialization of lumasiran in the EU under the tradename OXLUMO, upon marketing authorization from the European Commission.

The Company is also conducting ILLUMINATE-C a global open-label Phase 3 study of lumasiran in PH1 patients of all ages with advanced renal disease, including patients on dialysis, with topline results expected in 2021.

a Upper limit of normal or ULN = 0.514 mmol/24 hr/1.73m2; 1.5 x ULN = 0.771 mmol/24 hr/1.73 m2b A renal stone event (RSE) is defined as an event that includes at least one of the following: visit to healthcare provider because of a renal stone, medication for renal colic, stone passage, or macroscopic hematuria due to a renal stone

About ILLUMINATE-A Phase 3 Study

ILLUMINATE-A (NCT03681184) is a six-month randomized, double-blind, placebo-controlled, global, multicenter Phase 3 study (with a 54-month extension period) to evaluate the efficacy and safety of lumasiran in 39 patients, age six and older, with a documented diagnosis of PH1. Patients were randomized 2:1 to receive three monthly doses of lumasiran or placebo followed by quarterly doses at 3 mg/kg. The primary endpoint was the percent change in 24-hour urinary oxalate excretion from baseline to the average of months 3 to 6 in the patients treated with lumasiran as compared to placebo. Treatment arms were stratified at randomization based upon mean 24-hour urinary oxalate during screening (1.7 or >1.7 mmol/24hr/1.73m2). Key secondary and exploratory endpoints were designed to evaluate additional measures of urinary oxalate, plasma oxalate, estimated glomerular filtration rate (eGFR), nephrocalcinosis, renal stone events, safety and tolerability.

About ILLUMINATE-B Phase 3 Study

ILLUMINATE-B (NCT03905694) is a single arm, open-label, multicenter Phase 3 trial to evaluate the efficacy and safety of lumasiran in 18 patients with PH1 under the age of six (range: 3-72 months), with an estimated glomerular filtration rate (eGFR) of greater than 45 mL/min/1.73 m2 or normal serum creatinine if less than 12 months old, at nine study sites, in five countries around the world. Lumasiran was administered according to a weight-based dosing regimen. The primary efficacy endpoint of the study was the percent change from baseline to Month 6 in spot urinary oxalate:creatinine ratio averaged across Months 3 to 6. At six months, relative to baseline, lumasiran demonstrated a clinically meaningful reduction in spot urinary oxalate:creatinine ratio. Reduction of urinary oxalate relative to baseline was consistent across all three body weight categories (less than 10 kg; 10 kg to less than 20 kg, and 20 kg or higher).

About Lumasiran

Lumasiran is an investigational, subcutaneously administered RNAi therapeutic targeting hydroxyacid oxidase 1 (HAO1) in development for the treatment of primary hyperoxaluria type 1 (PH1). HAO1 encodes glycolate oxidase (GO). Thus, by silencing HAO1 and depleting the GO enzyme, lumasiran inhibits production of oxalate the metabolite that directly contributes to the pathophysiology of PH1. Lumasiran utilizes Alnylam's Enhanced Stabilization Chemistry (ESC)-GalNAc-conjugate technology, which enables subcutaneous dosing with increased potency and durability and a wide therapeutic index. Lumasiran has received both U.S. and EU Orphan Drug Designations, Breakthrough Therapy Designation from the U.S. Food and Drug Administration (FDA), and Priority Medicines (PRIME) designation from the European Medicines Agency (EMA). Lumasiran is under review by the U.S. FDA and received a Positive Opinion from the Committee for Medicinal Products for Human Use (CHMP) of the EMA.

About Primary Hyperoxaluria Type 1 (PH1)

PH1 is an ultra-rare disease in which excessive oxalate production results in the deposition of calcium oxalate crystals in the kidneys and urinary tract and can lead to the formation of painful and recurrent kidney stones and nephrocalcinosis. Renal damage is caused by a combination of tubular toxicity from oxalate, calcium oxalate deposition in the kidneys, and urinary obstruction by calcium oxalate stones. Compromised kidney function exacerbates the disease as the excess oxalate can no longer be effectively excreted, resulting in subsequent accumulation and crystallization in bones, eyes, skin, and heart, leading to severe illness and death. Current treatment options are very limited and include frequent renal dialysis or combined organ transplantation of liver and kidney, a procedure with high morbidity that is limited due to organ availability. Although a small minority of patients respond to vitamin B6 therapy, there are no approved pharmaceutical therapies for PH1.

About RNAi

RNAi (RNA interference) is a natural cellular process of gene silencing that represents one of the most promising and rapidly advancing frontiers in biology and drug development today. Its discovery has been heralded as a major scientific breakthrough that happens once every decade or so, and was recognized with the award of the 2006 Nobel Prize for Physiology or Medicine. By harnessing the natural biological process of RNAi occurring in our cells, a new class of medicines, known as RNAi therapeutics, is now a reality. Small interfering RNA (siRNA), the molecules that mediate RNAi and comprise Alnylam's RNAi therapeutic platform, function upstream of todays medicines by potently silencing messenger RNA (mRNA) the genetic precursors that encode for disease-causing or disease pathway proteins, thus preventing them from being made. This is a revolutionary approach with the potential to transform the care of patients with genetic and other diseases.

About Alnylam

Alnylam (Nasdaq: ALNY) is leading the translation of RNA interference (RNAi) into a whole new class of innovative medicines with the potential to transform the lives of people afflicted with rare genetic, cardio-metabolic, hepatic infectious, and central nervous system (CNS)/ocular diseases. Based on Nobel Prize-winning science, RNAi therapeutics represent a powerful, clinically validated approach for the treatment of a wide range of severe and debilitating diseases. Founded in 2002, Alnylam is delivering on a bold vision to turn scientific possibility into reality, with a robust RNAi therapeutics platform. Alnylams commercial RNAi therapeutic products are ONPATTRO (patisiran), approved in the U.S., EU, Canada, Japan, Brazil, and Switzerland, and GIVLAARI (givosiran), approved in the U.S, EU, and Brazil. Alnylam has a deep pipeline of investigational medicines, including six product candidates that are in late-stage development. Alnylam is executing on its Alnylam 2020 strategy of building a multi-product, commercial-stage biopharmaceutical company with a sustainable pipeline of RNAi-based medicines to address the needs of patients who have limited or inadequate treatment options. Alnylam is headquartered in Cambridge, MA. For more information about our people, science and pipeline, please visit and engage with us on Twitter at @Alnylam or on LinkedIn.

Alnylam Forward Looking Statements

Various statements in this release concerning Alnylam's future expectations, plans and prospects, including, without limitation, Alnylams views with respect to the safety and efficacy of lumasiran as demonstrated in the ILLUMINATE-B Phase 3 study in children under the age of six, including infants, as well as in the 12-Month extension period of the ILLUMINATE-A pivotal study and in results from the ongoing Phase 2 OLE study, the potential for lumasiran to have a favorable impact on PH1 disease manifestations and overall disease progression and management across all ages, Alnylam's expectations with respect to the review timelines for the lumasiran NDA by the FDA and expectations regarding EMA approval following the Positive Opinion from the CHMP, Alnylams plans, assuming favorable regulatory reviews, to bring lumasiran to patients with PH1 around the world under the tradename OXLUMO, expectations regarding the timing of topline results from ILLUMINATE-C, and expectations regarding the continued execution on its Alnylam 2020 guidance for the advancement and commercialization of RNAi therapeutics, constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results and future plans may differ materially from those indicated by these forward-looking statements as a result of various important risks, uncertainties and other factors, including, without limitation: the direct or indirect impact of the COVID-19 global pandemic or any future pandemic, such as the scope and duration of the outbreak, government actions and restrictive measures implemented in response, material delays in diagnoses of rare diseases, initiation or continuation of treatment for diseases addressed by Alnylam products, or in patient enrollment in clinical trials, potential supply chain disruptions, and other potential impacts to Alnylams business, the effectiveness or timeliness of steps taken by Alnylam to mitigate the impact of the pandemic, and Alnylams ability to execute business continuity plans to address disruptions caused by the COVID-19 or any future pandemic; Alnylam's ability to discover and develop novel drug candidates and delivery approaches and successfully demonstrate the efficacy and safety of its product candidates; the pre-clinical and clinical results for its product candidates, including lumasiran, which may not be replicated or continue to occur in other subjects or in additional studies or otherwise support further development of product candidates for a specified indication or at all; actions or advice of regulatory agencies, which may affect the design, initiation, timing, continuation and/or progress of clinical trials or result in the need for additional pre-clinical and/or clinical testing; delays, interruptions or failures in the manufacture and supply of its product candidates, including lumasiran, or its marketed products; obtaining, maintaining and protecting intellectual property; intellectual property matters including potential patent litigation relating to its platform, products or product candidates; obtaining regulatory approval for its product candidates, including lumasiran, and maintaining regulatory approval and obtaining pricing and reimbursement for its products, including ONPATTRO and GIVLAARI; progress in continuing to establish a commercial and ex-United States infrastructure; successfully launching, marketing and selling its approved products globally, including ONPATTRO and GIVLAARI, and achieving net product revenues for ONPATTRO within its revised expected range during 2020; Alnylams ability to successfully expand the indication for ONPATTRO in the future; competition from others using technology similar to Alnylam's and others developing products for similar uses; Alnylam's ability to manage its growth and operating expenses within the ranges of guidance provided by Alnylam through the implementation of further discipline in operations to moderate spend and its ability to achieve a self-sustainable financial profile in the future without the need for future equity financing; Alnylams ability to establish and maintain strategic business alliances and new business initiatives; Alnylam's dependence on third parties, including Regeneron, for development, manufacture and distribution of certain products, including eye and CNS products, Ironwood, for assistance with the education about and promotion of GIVLAARI, and Vir for the development of ALN-COV and other potential RNAi therapeutics targeting SARS-CoV-2 and host factors for SARS-CoV-2; the outcome of litigation; the risk of government investigations; and unexpected expenditures; as well as those risks more fully discussed in the "Risk Factors" filed with Alnylam's most recent Quarterly Report on Form 10-Q filed with the Securities and Exchange Commission (SEC) and in other filings that Alnylam makes with the SEC. In addition, any forward-looking statements represent Alnylam's views only as of today and should not be relied upon as representing its views as of any subsequent date. Alnylam explicitly disclaims any obligation, except to the extent required by law, to update any forward-looking statements.

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Alnylam Presents Positive Results from ILLUMINATE-B Phase 3 Study in Pediatric Patients with Primary Hyperoxaluria Type 1 at the American Society of...


4 UCSF Faculty Elected to the National Academy of Medicine for 2020 – UCSF News Services

Thursday, October 22nd, 2020

Four UC San Francisco faculty members are among the 100 new national and international members elected this year to the National Academy of Medicine (NAM), one of the highest honors in the fields of health of medicine.

Membership in the NAM recognizes individuals who have demonstrated outstanding professional achievements and commitment to service in the medical sciences, health care and public health.

This distinguished and diverse class of new members is a truly exceptional group of scholars and leaders whose expertise in science, medicine, health, and policy will be integral to helping the NAM address todays most pressing health challenges and inform the future of health and health care for the benefit of everyone around the globe,National Academy of Medicine President Victor J. Dzau said in a press release. It is my privilege to welcome these esteemed individuals to the National Academy of Medicine.

This year, this distinguished group welcomes four UCSF faculty:

Mark Anderson, MD, PhD

Anderson is a physician-scientist who cares for patients with autoimmune endocrine diseases such as type 1 diabetes. This focus extends into the lab, where his research examines the genetic control of autoimmune diseases to better understand the mechanisms by which immune tolerance is broken.

In particular, his lab is interested in how the thymus trains the immune system to distinguish proteins made by the body itself from proteins made by invasive pathogens. For example, they have shown that some thymus cells produce self proteins and others even differentiate into skin or gut cells to test newborn T cells for autoimmune tendencies. Understanding these mechanisms could one day lead to medical interventions that suppress or enhance immune activity.

Anderson is a member of the UCSF Diabetes Center and the UCSF Bakar ImmunoX Initiative, director of the UCSF Medical Scientist Training Program, and current president of the Federation of Clinical Immunology.

Edward Chang, MD

Chang is a neurosurgeon-scientist and chair of the Department of Neurological Surgery. He specializes in advanced brain mapping methods to preserve crucial areas for language and cognitive functions in the brain. Chang is a member of the UCSF Weill Institute for Neurosciences and co-director of the Center for Neural Engineering and Prostheses, a collaboration between UCSF and UC Berkeley.

Changs research focuses on the brain mechanisms for human behaviors such as speech and mood. For example, by studying the brain activity associated with the physical movements of speaking, his team was able to teach a computer to decode and transform these brain signals into synthetic speech. This technology has the potential to eventually lead to speech prosthetics for paralyzed people who have lost the ability to speak.

Chang completed his medical degree and residency in neurosurgery at UCSF and joined the faculty in 2010. He is the inaugural Bowes Biomedical Investigator at UCSF, an HHMI Faculty Scholar, and a recipient of the NIH Directors New Innovator Award and the Blavatnik National Award for Life Sciences.

Aleksandar Rajkovicpic, MD, PhD

Rajkovic is a medical geneticist who specializes in basic and translational research in reproductive genomics. His lab investigates the genetic underpinnings of the formation and differentiation of gametes and reproductive tracts and the role of these genes in human disease. For example, they have discovered numerous genes that regulate ovarian follicle formation and the growth of healthy eggs, and may be involved in infertility. Another focus is the genetics of fibroid tumors, which are found in nearly a quarter of women by age 45, and therapies to eliminate such tumors. He has been at the forefront of innovative technologies to diagnose and reveal the mechanisms of reproductive pathologies.

Rajkovic joined UCSF in 2018 as the first-ever Chief Genomics Officer of UCSF Health. In this role, he directs the activities of clinical genomics laboratories across UCSF and leads efforts to apply genetics and genomics clinical care throughout the health system.

Robert Wachter, MD

Wachter is a hospitalist and health care thought leader who has chaired the Department of Medicine since 2016. The department leads the nation in National Institutes of Health grants and consistently ranks among the nations best. He has authored more than 300 articles and six books and is a frequent contributor to the New York Times and Wall Street Journal. Recently, he has become known for organizing the widely viewed Department of Medicine COVID Grand Rounds and his informative tweets about the COVID-19 pandemic.

In 1996, Wachter coined the term hospitalist a physician who specializes in inpatient care and is often considered the founder of the hospitalist field, the fastest growing specialty in modern medical history. He is also a leading expert on patient safety, health care quality and digital health. He has served as president of the Society of Hospital Medicine and chair of the American Board of Internal Medicine.

New members to the NAM are elected by current active members. This years elections bring the number ofpeople from UCSF named as members in the NAM to 108.

The National Academy of Medicine, established in 1970 as the Institute of Medicine, is an independent organization of eminent professionals from diverse fields including health and medicine; the natural, social, and behavioral sciences; and beyond. It serves alongside the National Academy of Sciences and the National Academy of Engineering as an adviser to the national and the international community.

4 UCSF Faculty Elected to the National Academy of Medicine for 2020 - UCSF News Services


‘CRISPR and Coronavirus’: Hear From Nobel Winner Jennifer Doudna – UC Davis

Thursday, October 22nd, 2020

The Office of Research and the School of Medicine had planned to introduce their Oct. 30 speaking guest as a professor and the founder and director of the Innovative Genomics Institute at UC Berkeley, and a CRISPR pioneer.

Since being booked for the Distinguished Speaker Series in Research and Innovation, however, Jennifer Doudna has added a new title: Nobel laureate.

She and Emmanuelle Charpentier, director of the Max Planck Institute for Infection Biology, won the Nobel Prize in chemistry Oct. 7 for their co-development of CRISPR-Cas9, a genome editing tool that has revolutionized biomedicine and agriculture.

Whats CRISPR? Jennifer Doudna explains in a Radiolab podcast.

Doudna became the first woman on the UC Berkeley faculty to win a Nobel, and she and Charpentier are the first women to share a Nobel in the sciences.

Doudnas topic for her UC Davis talk is CRISPR and Coronavirus.

UC Davis Healths Ralph Green, distinguished professor in the Department of Pathology and Laboratory Medicine, and medical director of UC Davis Diagnostics, recently collaborated with Doudna and others on a project to set up COVID-19 testing for UC Berkeley and the surrounding community and Green is helping with a similar project at UC Davis.

I had the good fortune to get to know Jennifer Doudna through my interaction with her group when they turned their skills and knowledge to setting up, at remarkable speed, a pop-up, PCR-based test for SARS-CoV-2 during the early days of the COVID-19 pandemic when the country was scrambling to meet the need for more testing, Green said.

I have to say that it has been a singular pleasure and privilege for me to interact with Jennifer Doudna and her colleagues.

CRISPR-Cas9 genetic engineering technology enables scientists to change or remove genes quickly and with great precision. Labs worldwide have redirected their research programs to incorporate this new tool, creating a CRISPR revolution with huge implications across biology and medicine.

Doudna is a leader in public discussion of the ethical implications of genome editing for human biology and societies. She advocates for thoughtful approaches to the development of policies around the use of CRISPR-Cas9.

Follow Dateline UC Davis on Twitter.

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'CRISPR and Coronavirus': Hear From Nobel Winner Jennifer Doudna - UC Davis


‘A major pest:’ NCSU researcher helps unravel genetic blueprint of a bug ‘that’s on everything’ – WRAL Tech Wire

Thursday, October 22nd, 2020

RALEIGH The western flower thrips an invasive insect thats not much bigger than a pinhead takes a huge bite out of agriculture around the world, racking up billions of dollars worth of damage on a wide range of food, fiber and ornamental crops each year. Scientists now have a complete genetic blueprint to help them better understand the pest and to find ways to control it.

The research fills a significant gap in agricultural science and insect science: It highlights the first genome sequence and analysis for a member of Thysanoptera, an order that contains over 7,000 species of small insects with fringed wings.A journal article on the researchwas published open-access inBMC BiologyOct. 19.

Dorith Rotenberg, associate professor in NCStates Department of Entomology and Plant Pathology, is lead author of the paper. Fifty-six other researchers from universities and research institutions on five continents contributed.

Rotenberg said that the size of the team reflects the importance of the western flower thrips, orFrankliniella occidentalis,which is known to feed on hundreds of types of field and greenhouse-grown crops.

Theyre on everything flowers, fruit trees, solanaceous crops you name it, Rotenberg said. Theyre a major pest of the Southeast U.S. and California as well as anywhere around the world you have a lot of fruits and vegetables growing.

The project to sequence the thrips genome is affiliated withi5k, an ambitious international effort to sequence and analyze the genomes for 5,000 arthropod species insects, crustaceans, spiders and other creatures with exoskeletons, segmented bodies and pairs of jointed legs.

The i5k initiative focuses on species important to agriculture, food safety, medicine and energy production and contributes to our understanding of evolutionary biology, ecology and more.

Rotenberg and her colleagues got started on the western flower thrips genome project by developing an inbred line of thrips. The Human Genome Sequencing Center of the Baylor College of Medicine then sequenced the genome and assembled it, and Rotenberg recruited scientists from around the world to manually check the automated DNA annotation, verifying the location of genes and determining what those genes do.

Western flower thrips are native to the western North America, but since the 1970s, they have spread quickly throughout the world. The insect damages plants not only by feeding and laying their eggs on them but also by infecting plants with viruses, including the devastatingly difficult-to-control tomato spotted wilt virus.

Tomato spotted wilt virus, or TSWV, has been known to infect more than 1,000 plant species, ranging from tobacco and peanuts to pansies and chrysanthemums. In fact, TSWVs host range is among the largest for plant viruses, and so is its geographical range.

While theres been lots of research in recent decades aimed at curbing the toll that the virus and western flower thrips take on agriculture, Rotenberg said the genome could speed the development of solutions by helping researchers pinpoint molecular-level targets among the insects nearly 17,000 genes.

During the genome assembly project, scientists identified sets of genes related to the insects ability to thrive. Specifically, they found genes associated with the insects ability to develop and reproduce, to find plant hosts through taste and smell, to protect itself from pathogens and to detoxify chemicals that plants produce to repel insects and that humans use to kill them.

As Rotenberg noted, controlling the western flower thrips is difficult because the insect reproduces rapidly and becomes resistant to insecticides. In cotton, for example, theres evidence that thrips have evolved resistance to 19 insecticides within six groups with different modes of action.

Entomologists and growers know this very well: Thrips are notorious for building up resistance very quickly, Rotenberg said. And so you have to consider developing and using different types of chemicals and integrating alternative control strategies to manage this pest.

Already, the availability of the western flower thrips genome is having an impact, Rotenberg says. In her NCState lab, shes using the genome to advance her efforts to better understand the molecular-level interactions that take place between the western flower thrips and TSWV research that could be vitally important to disease prevention.

We want to find the molecules in the insect that interact directly with the virus that it transmits because if we know those molecules, then we can perhaps disrupt them in some way by interfering with the binding of the virus to the molecule of interest, she said.

And this is just the tip of the iceberg. Hopefully, (the genome) will be a resource that people can use for a long time, even as others start to develop new technologies or new resources that are even better.


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'A major pest:' NCSU researcher helps unravel genetic blueprint of a bug 'that's on everything' - WRAL Tech Wire


IU has started operating its own labs for COVID-19 mitigation testing – IU Newsroom

Thursday, October 22nd, 2020

BLOOMINGTON, Ind. -- As part of its ongoing efforts to manage and control COVID-19 on its campuses, Indiana University has started operating its own labs for COVID-19 testing. Since the university first started mitigation testing -- sometimes referred to as surveillance testing -- with its students, faculty and staff in August, tests were completed on campus and then sent to a third-party lab for analysis and results.

The new labs, in Bloomington and at the IU School of Medicine on the IUPUI campus, will be able to run the tests and provide this analysis. IU has been doing about 15,000 tests per week since the fall semester started. With the new labs online, the university will be able to complete 35,000 tests per week with the ultimate goal of doing 15,000 tests per day.

"We know the mitigation testing we've been doing on all IU campuses is a key piece of keeping cases low in our campus communities and maintaining the health and safety of our students, faculty and staff," said Dr. Aaron Carroll, director of mitigation testing, and professor of pediatrics and health outcomes research leader at the IU School of Medicine. "With these new labs, I'm excited to be able to further enhance our mitigation testing with more frequency and including a larger number of people in each week's sample group."

The labs are overseen by IU School of Medicine faculty members Aaron Ermel and Gail Vance and IU Bloomington faculty member Craig Pikaard. Trained lab staff will work with a variety of technology in the labs to analyze the thousands of mitigation tests completed each week at IU campuses. Liquid handling robots handle and process the saliva samples collected as part of the tests used during mitigation testing. From these samples, the lab determines if genetic material from the virus is in the sample. If genetic material is detected, the test is positive. If not, the test is negative for COVID-19.

"As we begin processing these tests at the university, our students, faculty and staff will notice much faster turnaround times for test results -- likely 24 hours or less," Carroll said.

Otherwise, he said, the mitigation testing process will remain the same. Emails will still be sent to people selected in each week's testing group, appointments will be need to be scheduled (although now through IU instead of Vault, the previous lab being used), and results will still be sent via email.

As the IU labs expand the number of tests they do each day, IU campuses will shift from Vault to using the IU labs exclusively. Tests from IU Bloomington are starting to be analyzed in the labs now, with tests from IUPUI and the regional campuses starting to use the labs in the near future.

"In addition to the cost efficiencies with operating our own labs, having the ability to run these tests here allows us to spot any trends or potential outbreaks and take appropriate public health actions in a much more timely manner," Carroll said. "Especially with COVID-19 cases increasing across the state and country, this continued testing is one of the best ways we have to manage the virus and hopefully avoid any outbreaks."

The labs will focus on mitigation testing for now but may also move into close contact testing, confirmatory testing for antigen ("rapid") tests and possibly even symptomatic testing in the months to come.

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IU has started operating its own labs for COVID-19 mitigation testing - IU Newsroom


A new push to remove race-based assessments in medicine – BetaBoston

Thursday, October 22nd, 2020

And in September, Senator Elizabeth Warren of Massachusetts and three other members of Congress called on the Department of Health and Human Services to investigate their use, warning that they risk embedding racism into medical practice.

Some medical institutions have stopped using race corrections in some tests. MGH and Brigham and Womens Hospital, for example, no longer adjust the results of a popular test for kidney functions, called eGFR. Critics worried the adjustment had tended to make kidney functions of Black patients look better, possibly concealing genuine problems and causing dangerous delays in needed medical care. Last week, a new study from Brigham and Womens Hospital concluded that eliminating race correction in kidney disease tests would qualify up to one in every three Black patients for more advanced care and that might result in more effective treatment of the disease.

There have been several reports of computer algorithms that produce racially biased results, such as facial recognition programs that can accurately identify white people, but not Black people. Earlier this year, a Black man in Michigan was arrested after facial recognition software falsely identified him as a criminal suspect. Such problems are usually a byproduct of the software development in this case, using too few photos of Black people to train the software to recognize dark-skinned faces.

Racial corrections for medical diagnostic tests were created on purpose. Consider the spirometer, used to measure lung capacity. The devices often require doctors to enter the race of the patient prior to the test, based on research dating back as far as the 19th century that indicates Black people have lower lung capacity than white people.

Other examples include an algorithm used to estimate the risk to the health of a pregnant woman planning to give birth vaginally, if she has previously undergone a caesarean birth. The race-adjusted algorithm predicts that vaginal birth is more dangerous for Black and Hispanic women than for white women. But for most women, vaginal deliveries result in fewer complications and faster recovery times. Vyas speculates that the algorithm may discourage doctors from offering vaginal deliveries to women of color, who already face a higher rate of maternal mortality.

The problem, according to Vyas, is that doctors and scientists are treating race as a clear-cut biological reality when it isnt. Research in population genetics has shown that apart from features such as skin color and hair texture, theres not that much difference genetically among people of different races. And the differences are bound to diminish even further, as interracial marriage becomes routine in the United States.

We know that race is not a biologic category, said Vyas. Its not genetic. Its a social construct.

Still, a variety of tests appear to show real differences between Black and white patients. The race correction for eGFR kidney tests was developed after large-scale research studies found that the test tended to underestimate kidney function in Black people.

Another example of the biology vs. environment tension involves the coronavirus. In a new paper in the Journal of the American Medical Association, researchers from the Mount Sinai School of Medicine reported that a gene associated with higher risk of contracting COVID-19 is more commonly found in the nasal tissues of Black people than white people. This genetic difference could help explain why such a high percentage of Black people in the US get infected.

But that doesnt prove that race is the reason. Vyas argues scientists should look for other explanations, such as the effects of systemic racism. For example, Black people are more likely to live in poverty, which exposes them to greater health risks. Vyas also said the psychological stress of coping with constant racism could affect the health outcomes of Black patients.

"Its not okay to just mention race without talking about racism, Vyas said.

The lead authors of the Mount Sinai study take note of this too, arguing that environmental and social factors play a role in the activation of genes. This could explain why Black people are more vulnerable to COVID-19.

Even a physician who helped develop the race-corrected algorithm for kidney tests agreed the practice has its limitations. But Lesley Inker, director of the Kidney and Blood Pressure Center at Tufts Medical Center, cautioned that failing to take race into account could also lead to faulty diagnoses in some cases.

For example, diabetes is the number-one cause of kidney failure among Black people. But because of potential side affects, current medical practice advises not administering two of the most effective drugs for diabetes to patients with low eGFR scores. Removing race correction from the kidney test would lower the scores of Black patients and make some of them ineligible for diabetes drugs that could help save their kidneys.

This is complex, and theres lots of pros and cons and balancing acts which should be considered prior to acting, Inker said.

Inker warns that giving up on these corrections too quickly might be dangerous. For instance, cardiologists have recently adopted a new way of assessing heart disease risk that takes race into account. For years, doctors have relied on data from a massive study of heart disease in Framingham, which began in 1948 and continues to this day. But the population of that study is overwhelmingly white. Now doctors supplement that data with an algorithm based on data from thousands of Black patients, and have found that the new approach is better at providing early warning of heart disease in Black people.

Melissa Simon, who heads the Center for Health Equity Transformation at Northwestern University Medical School in Chicago, said doctors need more data to understand the different health outcomes between Black and white people. In 2015, the National Institutes of Health launched a Precision Medicine Initiative that hopes to use genetic data and detailed information about a patients lifestyle and habits to determine the ideal course of treatment for each individual. Simon hopes that kind of highly personalized medicine could eliminate the need for race-based diagnostics altogether.

Updated with a new study on race correction in kidney disease tests.

Hiawatha Bray can be reached at Follow him on Twitter @GlobeTechLab.

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A new push to remove race-based assessments in medicine - BetaBoston


Co-Occurrence of the mcr-1.1 and mcr-3.7 Genes in a Multidrug-Resistan | IDR – Dove Medical Press

Thursday, October 22nd, 2020

Chongtao Du,1,* Yuyang Feng,1,* Guizhen Wang,2 Zhiyuan Zhang,1 Huimin Hu,1 Yu Yu,1 Jiayang Liu,1 Lihao Qiu,1 Hongtao Liu,1 Zhimin Guo,3 Jing Huang,3 Jiazhang Qiu1

1Key Laboratory of Zoonosis, Ministry of Education, College of Veterinary Medicine, Jilin University, Changchun 130062, Peoples Republic of China; 2College of Food Engineering, Jilin Engineering Normal University, Changchun 130052, Peoples Republic of China; 3Department of Clinical Laboratory, The First Hospital of Jilin University, Changchun 130021, Peoples Republic of China

*These authors contributed equally to this work

Correspondence: Jiazhang QiuCollege of Veterinary Medicine, Jilin University, No. 5333 Xian Road, Changchun 130062, Peoples Republic of ChinaEmail HuangDepartment of Clinical Laboratory, The First Hospital of Jilin University, Changchun 130021, Peoples Republic of ChinaEmail

Objective: A colistin-resistant Escherichia coli strain isolated from dog feces was characterized in this study.Methods and Results: A multiplex PCR assay was used to detect the presence of colistin-resistant mcr genes; it was found that E. coli QDFD216 co-harbored the mcr-1 and mcr-3 genes. Whole-genome sequencing and further bioinformatics analysis revealed that E. coli QDFD216 belonged to serotype O176:H11, fimH1311 type and ST132. The resistance genes blaCTX-M-14, mdfA, dfrA3, acrA, acrB, tolc, and sul3 were present in the chromosome. The mcr-1.1 and mcr-3.7 genes were located in two plasmids of different incompatibility groups. mcr-1.1 was carried by a IncX4-type plasmid within an typical IS 26-parA-mcr-1.1-pap2 cassette, while mcr-3.7 was encoded by an IncP1-type plasmid with a genetic structure of TnAs2-mcr-3.7-dgkA-IS 26. No additional antibiotic resistance genes were carried by either plasmid.Conclusion: This is the first report of an E. coli isolate co-harboring a mcr-1.1-carrying IncX4 plasmid and a mcr-3.7-carrying IncP1 plasmid. The evolution and mechanism of mcr gene co-existence need further study to assess its impact on public health.

Keywords: colistin resistance, whole-genome sequencing, mcr genes, mcr-1, mcr-3

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at 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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Cell Therapy Instruments Market Forecast to 2027 – COVID-19 Impact and Global Analysis by Product ; Cell Type ; Process ; End User, and Geography -…

Thursday, October 22nd, 2020

New York, Oct. 21, 2020 (GLOBE NEWSWIRE) -- announces the release of the report "Cell Therapy Instruments Market Forecast to 2027 - COVID-19 Impact and Global Analysis by Product ; Cell Type ; Process ; End User, and Geography" - On the other hand, high cost of cell therapy production and cell therapy are expected to hinder market growth.The growing advancements in biotechnology have led to the introduction of personalized treatments for people suffering from various health conditions.For instance, stem cell and immune cell therapies are preferred to treat chronic diseases such as cancer, diabetes, neurological disorders, and genetic disorders.

Further, the cell therapy advantages, such as targeted treatment, faster and efficient recovery, and reduced side effectspromote the launch of various products in the market, thereby increasing the production volume.

In North America and Europe, cell therapies are widely adopted owing to the availability of the US Food and Drug Administration (FDA) approved products in the market.For instance, in April 2020, FDA awarded regenerative medicine advanced therapy (RMAT) designation to Novartis Kymriah (tisagenlecleucel) to treat refractory (r/r) follicular lymphoma (FL) in adults.

The company claims that the therapy has the potential to treat acute lymphoblastic leukemia (ALL) and r/r adult diffuses large B-cell lymphoma (DLBCL) in children and young adults.Similarly, in October 2017, Kite, a Gilead, received an approval from FDA for its Yescarta, the first chimeric antigen receptor T cell (CAR T) therapy that treats refractory large B-cell lymphoma after two or more steps of systemic therapy in adults. In June 2020, the company announced the opening of a manufacturing hub in Amsterdam after it received an approval from the European Medicines Agency (EMA).There are several ongoing clinical trials for cell therapies; thus, to commercialize cell therapy products to the masses, manufacturers need to increase their production capacity.Various market players such as ThermoFisher Scientific Inc, Cytiva, Danaher Corporation, and Lonza are offering laboratory instruments.

Also, the rising demand for cell therapies have attracted biotechnology startups to enter the cell therapy domain. Thus, various biopharmaceutical companies and startups have increased their production, which has eventually increased the demand for cell therapy instruments.

Based on product, the cell therapy instrumentmarket is segmented into the consumables, equipment, systems, and software.In 2019, the consumables segment accounted for the highest share of the market.

The growth of the segment is attributed to the rising research activities that demand reagents, kits, and lab wares in higher quantity.Also, the increased production for commercialization has influenced the market for the consumables segments.

Additionally, the rising adoption of cell therapy has increased the demand for storage consumables to supply and distribute it to the desired places.

Based on cell type, the cell therapy instrumentsmarket is segmented into human cells and animal cells.The human cells segment held a larger share of the market in 2019, and is estimated to register a higher CAGR in the market during the forecast period.

The growth of segment is determined to growing research based on human cells to derived personalized medicines as the genetic makeup of a patient, and growing product developments for the human cells.

Based on process, the cell therapy instrumentsmarket is segmented into cell processing, process monitoring and quality control, and cell preservation, distribution, and handling. The cell processing segment held the largest share of the market in 2019, and is estimated to register the highest CAGR in the market during the forecast period.

Based on end user, the cell therapy instruments market is segmented into research institutes, life science research companies, and other end users. The life science research companies segment held the largest share of the market in 2019, and same segment is estimated to register the highest CAGR of 14.0% in the market during the forecast period.

The Food and Drug Administration, European Medicines Agency, Italian Medicines Agency, The Global Burden of Disease Study, American Society of Gene & Cell Therapy, and Ministry of Health and Preventionare among the major secondary sources referred for preparing this report.Read the full report:

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Cell Therapy Instruments Market Forecast to 2027 - COVID-19 Impact and Global Analysis by Product ; Cell Type ; Process ; End User, and Geography -...


The Prime Editing market to get on to the elliptical growth mode in the next decade –

Thursday, October 22nd, 2020

Prime editing is the gene-editing method that can insert, delete and do base swapping accurately. Prime editing also termed as genetic word processor precisely select the target DNA and replace genetic code. Targeting 75,000 different mutations and correcting 89% of genetic defects will drive the demand for prime editing. In 2017, the first gene editing in the human body was attempted. Gene editing in a patient with Hunters syndrome was tested for safety and concluded reliable shreds of evidence. Superior target flexibility and editing precision with minimal errors make Prime editing first preference over the other conventional technique such as CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats). Application of prime editing in reversing Genetic disease will be a milestone in gene editing.

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Increasing prevalence of genetic disease creates a huge opportunity for prime editing market. Successful preliminary results with a genetic disease like Tay Sachs and Sickle cell anaemia will drive the prime editing market. Technological advancements providing minimal error with this technique will fuel the growth of prime editing. Decreased cost of DNA sequencing will propel prime editing market for research and commercialization. Arising ethical and safety concerns will make prime editing highly regulated sector. This may limit the scope and can restraint the growing market. Detrimental effect on Genetic diversity due to genetic engineering in one way may limit the market scope.

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The global Prime Editing market is classified on the basis of application and end user:

Based on application, Prime Editing Market is segmented into following:

Based on end user, Prime Editing Market is segmented into following:

To receive extensive list of important regions, Request TOC here @

Prime Editing is the most recent invention has created a buzz in the market. Firms accessing conventional genome engineering technologies have rolled plans of transitioning to this new technology. The restructuring by the firms is either by building upon the technological capabilities or by merging or acquiring the firms which hold expertise in prime editing. Inscripta, one of the most innovative company has launched the worlds first benchtop platform for digital genome engineering. Inscriptas Onyx device that was launched in October 2019, will enable genome editing at an unprecedented scale and cheaper rate. In 2019, Beam Therapeutics collaborated with a premium start-up in prime editing segment Prime Medicine for Prime Editing Technology. Beam therapeutics holds expertise in precision genetic medicine using base editing technology. The market consolidation activities my giants depict that genome editing will be the largest revenue-generating segment for prime editing market.

North America will drive the market for Prime Editing due to high prevalence of genetic disease and technological advancement in the U.S. and Canada. One in every 27 Jews, is carrying Tay Sachs disease gene. After North America, Europe is leading in patient pool for genetic diseases such Hemophilia and Cystic fibrosis. The genetic disease pool will drive the adoption for Prime editing treatments in this region. Asia-Pacific will remain at steady growth for Prime Editing market due less disease prevalence and focus on other therapies. Latin America and Middle East and Africa region will boost the market owing to the disease prevalence.

Examples of some of the market participants in Prime Editing market identified across the value chain Beam Therapeutics Inc., Precision BioSciences, Inscripta, Inc, Horizon Discovery Ltd., Sangamo Therapeutics, Inc., CRISPR Therapeutics., Intellia Therapeutics, Inc.

Explore Extensive Coverage of PMR`sLife Sciences & Transformational HealthLandscape

Persistence Market Research (PMR) is a third-platform research firm. Our research model is a unique collaboration of data analytics andmarket research methodologyto help businesses achieve optimal performance.

To support companies in overcoming complex business challenges, we follow a multi-disciplinary approach. At PMR, we unite various data streams from multi-dimensional sources. By deploying real-time data collection, big data, and customer experience analytics, we deliver business intelligence for organizations of all sizes.

Our client success stories feature a range of clients from Fortune 500 companies to fast-growing startups. PMRs collaborative environment is committed to building industry-specific solutions by transforming data from multiple streams into a strategic asset.

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The Prime Editing market to get on to the elliptical growth mode in the next decade -


Study reports chemical mechanism that boosts enzyme observed in cancer – IU Newsroom

Thursday, October 22nd, 2020

A new study led by scientists at IUPUI and Indiana University Bloomington is the first to describe a biochemical mechanism that increases the activity of a molecule whose presence is observed in many types of cancer.

The molecule, an enzyme called Pif1 helicase, plays a role in many important cellular processes in the body. Tightly regulating this protein is vital to genome stability because too little -- or too much -- activity can influence aging and age-related diseases, primarily cancer. A common cancer therapy, HDAC inhibitors, can also impact the mechanism that regulates this enzyme.

"We're currently giving people drugs that change the acetylation status of the cell without knowing how it affects many proteins that play a role in genome stability," said Lata Balakrishnan, an associate professor of biology in the School of Science at IUPUI, who is co-lead author on the study. "HDAC inhibitors upregulate certain tumor-suppression genes, and thus are used in combination therapies to treat specific cancers, but when it comes to their impact on other parts of the cell, we're basically operating in the dark."

The study's other lead author is Matthew Bochman, an associate professor in the IU Bloomington College of Arts and Sciences' Department of Molecular and Cellular Biochemistry. Other co-authors are Christopher Sausen and Onyekachi E. Ononye, Ph.D. students in Bochman's and Balakrishnan's labs, respectively, at the time of the study.

The effect of lysine acetylation on Pif1 is the mechanism described in the study. Lysine acetylation occurs when a small molecule called an acetyl group binds to lysine, an amino acid used to build common proteins in the body. This action transforms lysine from a positively charged molecule to a neutrally charged molecule. This neutralization can impact protein function, protein stability and protein-protein interaction in cells, among other things.

Helicases are known as the genetic "zippers" of cells because they pull apart DNA for the purpose of genetic replication and repair. They also help maintain telomeres, the structure at the end of chromosomes that shortens as people age.

In the new study, the researchers identified lysine acetylation on Pif1 helicase and showed the addition of the acetyl group increases the protein's activity -- as well as its "unzipping" function. They also found that lysine acetylation changes the shape -- or "conformation" -- of the Pif1 protein. They believe that this shape change increases the amount of Pif1 helicase.

"The dynamic interplay of the addition and removal of the acetyl group on lysine regulates a wide variety of proteins within the cell," Balakrishnan said. "Perturbations to this process can play a role in cancer, aging, inflammatory responses and even addiction-related behaviors."

"As a class, helicases are involved in a lot of processes necessary for genome integrity," Bochman added. "Any significant failure in these processes is generally carcinogenic."

The precise details of lysine acetylation in Pif1, its effect of the enzyme's shape and the resulting impact on helicase activity took nearly five years to observe and report. The study, carried out in parallel on two IU campuses, was made possible by the lead scientists' complementary expertise. As a biochemist who has previously studied lysine acetylation in other proteins, Balakrishnan was able to isolate Pif1 in vitro to observe its response to chemical reactions in a test tube. In contrast, as a geneticist working in yeast as a model organism to study Pif1, Bochman was able to modify cells in vivo to watch reactions play out in a living organism.

"The ability to observe these reactions in a living cell is often more relevant, but it's also a lot messier," Balakrishnan said. "Our experiments were constantly informing each other as to where to go next."

Looking to the future, Bochman said intricate knowledge of cellular processes -- such as lysine acetylation -- will increasingly play a role in personalized therapy.

"If you sequence a patient's tumor, you can fine-tune drugs to target very specific enzymes," he said. "Instead of a drug that broadly affects the whole cell, it will be possible to take a targeted approach that reduces potential side effects. This level of personalization is really the future of cancer biology and cancer medicine."

"Lysine Acetylation Regulates the Activity of Nuclear Pif1" is available online in advance of print in the Journal of Biological Chemistry. A perspective article on the work is also forthcoming in the journal Current Genetics.

This work was supported in part by the National Science Foundation, the National Institutes of Health and the American Cancer Society.

Indiana University's world-class researchers have driven innovation and creative initiatives that matter for 200 years. From curing testicular cancer to collaborating with NASA to search for life on Mars, IU has earned its reputation as a world-class research institution. Supported by $854 million last year from our partners, IU researchers are building collaborations and uncovering new solutions that improve lives in Indiana and around the globe.

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Study reports chemical mechanism that boosts enzyme observed in cancer - IU Newsroom


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