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Archive for the ‘Genetic medicine’ Category

Penn Medicine Researchers Receive $5.4 million Grant to Find Genetic Drivers of Testicular Cancer – Newswise

Saturday, October 31st, 2020

Newswise PHILADELPHIAThe international hunt to find more genetic risk markers for testicular cancer is expanding. A team of researchers led by Katherine L. Nathanson, MD, deputy director of the Abramson Cancer Center and the Pearl Basser Professor for BRCA-Related Research in the Perelman School of Medicine at the University of Pennsylvania, was recently awarded $5.4 million over five years from the National Institutes of Health to continue the long-standing genomics work of the TEsticular CAncer Consortium (TECAC).

A total of nearly $7 million has been awarded to TECAC, which includes researchers from 27 institutions around the world, whose collaborative goal is understand the genetic susceptibility to testicular germ cell tumors (TGCT).

TGCT are the most common cancer in the United States and Europe in men between the ages of 15 to 45, and the number of cases has continued to rise over the past 40 years. Approximately 50 percent of the risk of disease is due to genetic factors, higher than for other cancer types.

To date, TECAC has identified 22 novel susceptibility alleles, bringing the total number of risk markers to 66. Nathanson led a study in 2017 published in Nature Genetics that identified eight of those markers in previously unknown gene regions, as well as four in previously identified regions.

Members of TECAC also were the first to identify CHEK2, a moderate penetrance gene for TGCT. Penetrance refers to the proportion of people with a mutation in specific gene. Unlike other solid tumor types (e.g. breast, ovarian), the inherited risk of TGCT is likely due to multiple variants rather than any single gene.

Our work has revealed critical roles for genetic variants and mutations in testicular germ cell tumors and defined the biology of TGCTs as associated with defects in maturation of male germ cells, but theres still much more to discover with this highly heritable disease, Nathanson said. This grant will allow us to continue to pool our resources and expertise to better understand its biology and etiology, as well as provide data that can help identify men at higher risk of the disease and in need of surveillance.

The latest round of funding will focus on three projects: identify rare and common variants using whole exome genetic sequencing from biosamples of more than 2,000 men; conduct a transcriptome-wide association study, or TWAS, to identify novel candidate susceptibility genes in nearly 250,000 men (the largest to date); and further evaluate any variants or gene discovered from those two projects using tools, such as CRISPR, in cells.

Other Penn collaborators on this grant (R01 CA164947 A1) include David Vaughn, Linda Jacobs, Li-San Wang and Mingyao Li.

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Penn Medicineis one of the worlds leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of theRaymond and Ruth Perelman School of Medicine at the University of Pennsylvania(founded in 1765 as the nations first medical school) and theUniversity of Pennsylvania Health System, which together form a $8.6 billion enterprise.

The Perelman School of Medicine has been ranked among the top medical schools in the United States for more than 20 years, according toU.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $494 million awarded in the 2019 fiscal year.

The University of Pennsylvania Health Systems patient care facilities include: the Hospital of the University of Pennsylvania and Penn Presbyterian Medical Centerwhich are recognized as one of the nations top Honor Roll hospitals byU.S. News & World ReportChester County Hospital; Lancaster General Health; Penn Medicine Princeton Health; and Pennsylvania Hospital, the nations first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is powered by a talented and dedicated workforce of more than 43,900 people. The organization also has alliances with top community health systems across both Southeastern Pennsylvania and Southern New Jersey, creating more options for patients no matter where they live.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2019, Penn Medicine provided more than $583 million to benefit our community.

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enGene Receives Funding Through Cystic Fibrosis Foundation’s Path to a Cure for the Discovery of Novel Gene Therapies to Treat Cystic Fibrosis -…

Saturday, October 31st, 2020

BOSTON and MONTRAL, Oct. 29, 2020 /PRNewswire/ -enGeneInc.,abiotechnology company developing non-viral gene therapies for local administration into mucosal tissues enabled by its proprietary DDX platform, announced today an award from the Cystic Fibrosis Foundation for the discovery of genetic medicines to treat patients with cystic fibrosis (CF).

The award was made as a part of the CF Foundation's $500 million Path to a Cure initiative to accelerate the discovery and development of treatments that address the underlying cause of the disease.

Affecting over 75,000 patients worldwide, CF is a genetic disease caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR) that render a non-functional CFTR protein. Consequently, multiple organs are affected by disease, chief among them the lungs, where chronic infections and a worsening ability to breathe leads to progressive lung damage and premature death. Patients with nonsense and other rare mutations in both copies of the CFTR gene currently have no therapies that treat the underlying cause of the disease.

"Gene therapy holds promise for the treatment of CF by delivering a functional copy of the CFTR gene to the lungs to restore function and alleviate disease. enGene is developing a DDX-based inhalable formulation to carry DNA to the airways with the goal of functional complementation of CFTR mutations. We are thrilled to have the support of the Cystic Fibrosis Foundation to discover novel gene therapy candidates for patients with CF," commented Jose Lora, CSO of enGene.

In developing an inhalable gene therapy for CF, enGene is coupling a non-viral DNA payload to its biocompatible DDX carrier in an effort to create genetic medicines that allow repeatable and titratable dosing to achieve meaningful efficacy.

"Gene therapies have made a remarkable impact in many fields of medicine, but unlocking their full potential in mucosal tissues such as the lung has been elusive, leaving many patients with CF without available treatment options. We are honored to be working with the CF Foundation to accelerate our research and development efforts towards improving and extending the lives of all CF patients," said Jason Hanson, enGene's President and CEO.

About enGene Inc.enGene Inc. is a biotechnology company developing a proprietary non-viral gene therapy platform for localized delivery of nucleic acid payloads to mucosal tissues. The dually derived chitosan (DDX) platform has a high-degree of payload flexibility including DNA and various forms of RNA with broad tissue and disease applications. In addition to developing gene therapies for the lungs, enGene has developed a unique dual-immune activator for patients with non-muscle invasive bladder cancer which has completed IND-enabling studies. The company is evolving its technology to enable applications in multiple mucosal tissues with areas of high unmet medical need.www.engene.com/

Note regarding forward-looking statementsThis press release contains certain "forward-looking statements" that reflect the Company's beliefs and assumptions based on currently available data and information. These forward-looking statements fall within the meaning of the "safe harbor" provisions of the U.S. Private Securities Litigation Reform Act of 1995. Forward-looking statements can be identified by words such as: "target," "believe," "expect," "will," "may," "anticipate," "estimate," "would," "positioned," "future," and other similar expressions that predict or indicate future events or trends or that are not statements of historical matters. Forward-looking statements are neither historical facts nor assurances of future performance. Instead, they are based only on enGene's current beliefs, expectations, and assumptions that by definition involve risks, uncertainties, that are difficult to predict and are subject to factors outside of management's control and that could cause actual results to differ substantially from statements made including but not limited to: risks associated with the success of preclinical studies, clinical trials, research and development programs, as well as regulatory approval processes. Actual results and outcomes may differ materially from those indicated in the forward-looking statements. enGene has no approved drugs available for sale marketing at this time and may never have an approved drug. You are cautioned not to rely on enGene's forward looking statements, which are only made as of the date hereof. The Company is under no obligation to update these statements.

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http://engene.com/

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enGene Receives Funding Through Cystic Fibrosis Foundation's Path to a Cure for the Discovery of Novel Gene Therapies to Treat Cystic Fibrosis -...

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New screening tool could turn up genes tied to developmental disorders – STAT

Saturday, October 31st, 2020

Scientists in Vienna have developed a new human tissue screening technique that has identified previously unknown genes involved in causing microcephaly, a rare genetic disorder, and that could one day be used to identify unknown genes tied to other conditions.

In a study published Thursday in Science, researchers screened lab-grown human brain tissues for 172 genes thought to be associated with microcephaly, a condition in which babies are born with smaller-than-normal brains and have severe mental impairments. The search revealed 25 new genes linked to this rare neurological condition, adding to the 27 already known genes tied to microcephaly. The researchers also uncovered the involvement of certain pathways that were previously unknown to be connected to the disease.

This is a proof of concept, said Jrgen Knoblich, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-author of the study. With our ability to query many diseased genes at the same time and ask which ones are relevant in a human tissue, we can now study other diseases and other organs.

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For decades scientists have relied on small animals as models to make sense of how a human brain develops. But it turns out that our brains are not blown-up versions of a rodent brain. Mice and rat brain surfaces, for instance, are smooth, unlike the shrivelled walnut look of a human brain, with its countless folds. Also, these rodents are born with a somewhat complete brain, in which most neurons are in place, although they continue to form new connections after birth. In a human child, on the other hand, there are a massive number of neurons that form and populate the cortex after birth.

There are some processes that happen in our brain and not in mice brains that are responsible for human brains becoming so big and powerful, Knoblich said. This generates a very big medical problem, which is how do we study processes that are only happening in humans.

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To address this problem, several scientists including Knoblich developed human brain organoids that are no bigger than a lentil, created from stem cells, and function just like a working human brain. With an interest in studying neurodevelopmental disorders like microcephaly, Knoblichs team used these miniature substitute brains to look for clues about the genes that may hamper brain development.

Typically, scientists conduct genetic screening by inactivating select genes one by one to understand their contribution to bodily functions. But screens of human genes are restricted to cells grown in petri dishes in two dimensions, in which cells dont interact very much.

Microcephaly is a tissue disease and we couldnt really study it in 2D, said Christopher Esk, a molecular biologist at the Austrian Academy of Sciences Institute of Molecular Biotechnology and co-lead author of the study.

So, the researchers developed a technique called CRISPR-Lineage Tracing at Cellular resolution in Heterogeneous Tissue, which uses the gene-editing technology to make cuts in DNA and knockout genes in combination with a barcoding technology that tracks parent stems and their progeny cells as the 3D brain organoid develops.

Using an organoid developed from cells of a microcephalus patient, they kept an eye out for mutations that gave rise to fewer cells and thus a small brain in comparison with a healthy one.

The researchers used CRISPR-LICHT to simultaneously screen 172 potential microcephaly causing gene candidates and found 25 to be involved.

Among them was a gene called Immediate Early Response 3 Interacting Protein 1 in the endoplasmic reticulum, which is the protein processing station within a cell. This protein processing is required to properly process other proteins, among them extracellular matrix proteins, which are in turn important for tissue integrity, and thus brain size, Esk said.

Kristen Brennand, a stem cell biologist at the Icahn School of Medicine at Mount Sinai in New York, who wasnt involved in the study, said she appreciated how the research captured this causal link. Clinical genetics can identify mutations in patients, but fall short of identifying causal mutations that definitively underlie disease risk, she said.

Going forward, Knoblich and his colleagues hope to use CRISPR-LICHT to screen many more genes that may be associated with other brain development disorders. Weve done it for microcephaly, and were already doing it for autism, he said. But the method can be applied to any type of organoid or any type of disease and any cell type.

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Prowess of Bionano Genomics’ Saphyr System in Uncovering Novel Genetic Variations That Cause Cancer and Genetic Disease in Full Display at ASHG 2020 -…

Saturday, October 31st, 2020

SAN DIEGO, Oct. 27, 2020 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (Nasdaq: BNGO) announced that human genetics researchers using the Saphyr system will present their results at the American Society of Human Genetics (ASHG) Annual Meeting, being held virtually at http://www.ashg.org between October 27-30. The impact of structural variation analysis using the Saphyr system will be demonstrated at ASHG with 18 oral and poster presentations which cover an expanding array of diseases like cancer predisposition, microdeletion syndromes, repeat expansion disorders, neurodegenerative diseases, disorders of sex development and a variety of other genetic diseases. Additionally, these presentations show Saphyrs abilities to elucidate the exact structure of complex genomic rearrangements such as large inversions, chromothripsis and low copy repeats.

The scientific importance and quality of the studies utilizing Saphyr and presented at ASHG have increased year over year, said Erik Holmlin, Ph.D., CEO of Bionano. As more scientists present and publish their important discoveries made with Saphyr, an increasing number of potential future Saphyr users become aware of its prowess in uncovering novel genetic variants that contribute to cancer and genetic disease, which could drive more adoption and utilization for basic genetic research and clinical studies alike.

Below is a summary of key presentations to be given at ASHG 2020 featuring the use of Bionanos optical genome mapping technology:

Live Presentation October 29, 2020, 11:45AM-12:00PMDeciphering Genomic InversionsChristopher M. Grochowski, Baylor College of MedicineGenomic inversions are a class of structural variation (SV) relevant in evolution, speciation, and human disease but challenging to detect and resolve using current genomic assays. While short-read WGS can detect a fraction of copy number neutral inversions, those mediated by repeats or accompanied by CNVs remain challenging. The utilization of multiple technologies and visualization of unbroken DNA through long molecule approaches facilitate detection ofin cisevents and resolution of SVs containing two or more breakpoint junctions.

The following Co-Labs, Poster Sessions and Abstracts are available for on-demand viewing during and after ASHG 2020:

Bionano Laboratory Co-Lab Session: Resolving Complex Haplotypes Implicated in Alzheimers and Other Neurodegenerative Diseases.Mark T. W. Ebbert, Neuroscience Department, Mayo ClinicAlzheimers disease is genetically complex with no meaningful therapies or pre-symptomatic disease diagnostics. Most of the genes implicated in Alzheimers disease do not have a known functional mutation, meaning there are no known molecular mechanisms to help understand disease etiology.

In this co-lab session, Mark T. W. Ebbert of the Mayo Clinic will discuss his teams work toward identifying functional structural mutations that drive disease in order to facilitate a meaningful therapy and pre-symptomatic disease diagnostic. Some of the genes and regions implicated in Alzheimers disease are genomically complex and cannot be resolved with short-read sequencing technologies. These regions include MAPT, CR1, and the histocompatibility complex (including the HLA genes).

3342 Bionano Poster Session: High Throughput Analysis of Disease Repeat Expansions and Contractions by Optical MappingErnest Lam, Sr Manager Bioinformatics, Bionano GenomicsRepeat expansions and contractions are associated with degenerative disorders such as facioscapulohumeral muscular dystrophy (FSHD). Southern Blotting is the gold standard for long repeat analysis but has many limitations. Optical genome mapping allows for efficient analysis of diseases associated with repeat expansion and contraction.

2190 Bionano Poster Session: Rapid Automated large Structural Variation Detection in Mouse Genome by Whole Genome SequencingJill Lai, Sr Applications Scientist, Bionano GenomicsIdentifying SVs for key model organisms such as mouse and rat is essential for genome interpretation and disease studies but has been historically difficult due to limitations inherent to available genome technologies. We updated the Saphyr analysis pipeline such that copy number variant (CNV) and SV analyses could now be applied to mouse and other non-human species, and constructed a control SV database for annotating variants, and identified strain-specific SVs/CNVs as well as variation shared among strains.

Additional presentations/abstracts featuring optical genome mapping:

3208 - Long-read sequencing and optical mapping decipher structural composition ofATXN10repeat in kindred with spinocerebellar ataxia and Parkinsons diseasePresented by Birgitt Schuele, Associate Professor, Department of Pathology, Stanford University School of Medicine

3270 - Uniparental isodisomy, structural and noncoding variants involved in inherited retinal degeneration (IRD) in three pedigreesPresented by Pooja Biswas, Ophthalmology Department, University of California, San Diego

Data CoLab: Whole Genome Map Assembly and Structural Variation Analysis with Hitachi Human Chromosome ExplorerPresented by Hitachi-High-Tech America, Inc.

2123 - High-throughput sequencing and mapping technologies applied to 10 human genomes with chromothripsis-like rearrangementsPresented by Uir Souto Melo, Mundlos Lab, Max Planck Institute for Molecular Genetics, Berlin, Germany

2165 -nanotatoR: A tool for enhanced annotation of genomic structural variantsPresented by Emmanuele Delot, Center for Genetic Medicine Research, Childrens National Hospital, Washington, DC

2998 - Highly variable structure and organization of the human 3q29 subtelomeric segmental duplicationsPresented by Umamaheswaran Gurusamy, Cardiovascular Research Institute, University of California San Francisco

2304 - Enlightening the dark matter of the genome: Whole genome imaging identifies a germline retrotransposon insertion inSMARCB1in two siblings with atypical teratoid rhabdoid tumorPresented by Mariangela Sabatella, Princess Mxima Center for Pediatric Oncology, Utrecht, Netherlands

2318 - FaNDOM: Fast Nested Distance-based seeding of Optical MapsPresented by Siavash Raeisi Dehkordi, Computer Science & Engineering, University of California San Diego, La Jolla

3023 - Structural hypervariability of low copy repeats on chromosome 22 is human specificPresented by Lisanne Vervoort, Department of Human Genetics, KU Leuven, Leuven, Belgium

3024 - Telomere-to-telomere assembly and complete comparative sequence analysis of the human chromosome 8 centromereReviewer's Choice Award RecipientPresented by Glennis Logsdon, Genome Sciences, University of Washington, Seattle, WA

3311 - Comprehensive structural variant identification with optical genome mapping and short-read sequencing for diagnosis of disorders/differences of sex development (DSD)Reviewer's Choice Award RecipientPresented by Hayk Barseghyan, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC

3318 - De novo mutation and skewed X-inactivation in girl with BCAP31-related syndromePresented by H.J. Kao, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan

3560 - Resolving genomic structures inMECP2Duplication Syndrome provides insight into genotype-phenotype correlationsReviewer's Choice Award RecipientPresented by Davut Pehlivan, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

2157 -methometR: quantification of long-range haplotype specific methylation levels from Optical Genome MapsPresented by Surajit Bhattacharya, Center for Genetic Medicine Research, Childrens Research Institute, Childrens National Hospital, Washington, DC

About Bionano GenomicsBionano is a genome analysis company providing tools and services based on its Saphyr system to scientists and clinicians conducting genetic research and patient testing, and providing diagnostic testing for those with autism spectrum disorder (ASD) and other neurodevelopmental disabilities through its Lineagen business. Bionanos Saphyr system is a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets and to streamline the study of changes in chromosomes, which is known as cytogenetics. The Saphyr system is comprised of an instrument, chip consumables, reagents and a suite of data analysis tools, and genome analysis services to provide access to data generated by the Saphyr system for researchers who prefer not to adopt the Saphyr system in their labs. Lineagen has been providing genetic testing services to families and their healthcare providers for over nine years and has performed over 65,000 tests for those with neurodevelopmental concerns. For more information, visitwww.bionanogenomics.com or http://www.lineagen.com.

Forward-Looking StatementsThis press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, among other things: the timing and content of the presentations identified in this press release; the effectiveness and utility of Bionanos technology in basic genetic research and clinical settings; the contribution of Saphyr to uncovering novel genetic variants that contribute to cancer and genetic disease; the benefits of Bionanos optical mapping technology and its ability to facilitate genomic analysis in future studies; and Bionanos strategic plans. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks and uncertainties associated with: the impact of the COVID-19 pandemic on our business and the global economy; general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of medical and research institutions to obtain funding to support adoption or continued use of our technologies; the loss of key members of management and our commercial team; and the risks and uncertainties associated withour business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2019 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

CONTACTSCompany Contact:Erik Holmlin, CEOBionano Genomics, Inc.+1 (858) 888-7610eholmlin@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617) 430-7577arr@lifesciadvisors.com

Media Contact:Darren Opland, PhDLifeSci Communications+1 (617) 733-7668darren@lifescicomms.com

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Beat AML Master Clinical Trial Shows Promise for Precision Medicine in the Treatment of AML – Cancer Network

Saturday, October 31st, 2020

Patients who participated in the Beat AML Master clinical trial were found to have superior outcomes with precision medicine, compared to patients with acute myeloid leukemia (AML) who opted for standard chemotherapy treatment, according to a study published in Nature Medicine.1

Overall, the study demonstrated that a precision medicine therapy strategy in AML is feasible within 7days of sample receipt and before treatment selection, allowing patients and physicians to rapidly incorporate genomic data into treatment decisions without increasing early death or adversely impacting overall survival (OS).

The study shows that delaying treatment up to seven days is feasible and safe, and that patients who opted for the precision medicine approach experienced a lower early death rate and superior overall survival compared to patients who opted for standard of care, corresponding author John C. Byrd, MD, D. Warren Brown Chair of Leukemia Research of The Ohio State University, said in a press release.2 This patient-centric study shows that we can move away from chemotherapy treatment for patients who wont respond or cant withstand the harsh effects of the same chemotherapies weve been using for 40 years and match them with a treatment better suited for their individual case.

In the ongoing Beat AML trial, researchers prospectively enrolled untreated patients with AML who were60 years or older with the aims of providing cytogenetic and mutational data within 7days of the sample receipt and before treatment selection, followed by treatment assignment to a sub-study based on the dominant clone. In total, 487 patients with suspected AML were enrolled in the study and 395 were deemed eligible for analysis.

The median age of the participants was 72 years (range 60-92 years). Overall, 374 patients (94.7%) had genetic and cytogenetic analysis completed within 7days and were centrally assigned to a Beat AML sub-study, while 224 (56.7%) were enrolled on a Beat AML sub-study. The remaining 171 patients elected to receive either standard of care (n = 103), investigational therapy (n = 28), or palliative care (n = 40). Moreover, 9 patients died before treatment assignment.

Demographic, laboratory, and molecular characteristics were not found to be significantly different between patients on the Beat AML sub-studies and those receiving standard of care (induction with cytarabine+daunorubicin [7+3 or equivalent] or hypomethylation agent).

However, 30-day mortality was less frequent, and OS was significantly longer for patients enrolled on the Beat AML sub-studies versus those who elected to receive standard of care. The median OS for patients included in the Beat AML trial was 12.8 months versus 3.9 months for patients opting for standard of care.

To date, the trial has now screened more than 1000 patients at 16 cancer centers. The data presented herein represents patient enrollment during a slice of time between November 17, 2016 and January 30, 2018.

The study is changing significantly the way we look at treating patients with AML, showing that precision medicine, giving the right treatment to the right patient at the right time, can improve short and long-term outcomes for patients with this deadly blood cancer, Louis J. DeGennaro, PhD, president and CEO of the Leukemia & Lymphoma Society (LLS), the conductor of the trial, said in the release. Further, Beat AML has proven to be a viable model for other cancer clinical trials to emulate.

Recently, LLS launched itsBeat COVIDtrial, which leveraged the Beat AML infrastructure to quickly pivot to treat patients with blood cancer who are infected with the coronavirus disease 2019 (COVID-19) virus. The trial is testing the drug acalabrutinib (Calquence), which is currently approved to treat several types of blood cancers. The trial is open to patients diagnosed with all types of blood cancers.

Additionally, LLS is also planning other precision medicine trials modeled after Beat AML, including LLS PedAL, a global precision medicine trial for children with relapsed acute leukemia, currently on track to launch in summer 2021, and Stop MDS, a master trial for patients withmyelodysplastic syndromes.

References:

1. STUDY IN NATURE MEDICINE SHOWS SUPERIOR OUTCOMES FOR PATIENTS IN LLS'S PARADIGM-SHIFTING BEAT AML CLINICAL TRIAL [news release]. Rye Brook, NY. Published October 26, 2020. Accessed October 28, 2020. https://www.lls.org/news/study-in-nature-medicine-shows-superior-outcomes-for-patients-in-llss-paradigm-shifting-beat-aml-clinical-trial?src1=182886&src2=

2. Burd A, Levine RL, Ruppert AS, et al. Precision medicine treatment in acute myeloid leukemia using prospective genomic profiling: feasibility and preliminary efficacy of the Beat AML Master Trial. Nature Medicine. doi: 10.1038/s41591-020-1089-8

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Sarepta Therapeutics to Announce Third Quarter 2020 Financial Results and Recent Corporate Developments on November 5, 2020 – Stockhouse

Saturday, October 31st, 2020

CAMBRIDGE, Mass., Oct. 29, 2020 (GLOBE NEWSWIRE) -- Sarepta Therapeutics, Inc. (NASDAQ:SRPT), the leader in precision genetic medicine for rare diseases, will report third quarter 2020 financial results after the Nasdaq Global Market closes on Thursday, November 5, 2020. Subsequently, at 4:30 p.m. E.T., the Company will host a conference call to discuss its third quarter 2020 financial results and to provide a corporate update.

The conference call may be accessed by dialing (844) 534-7313 for domestic callers and (574) 990-1451 for international callers. The passcode for the call is 9452027. Please specify to the operator that you would like to join the "Sarepta Third Quarter 2020 Earnings Call." The conference call will be webcast live under the investor relations section of Sarepta's website at http://www.sarepta.com and will be archived there following the call for 90 days. Please connect to Sarepta's website several minutes prior to the start of the broadcast to ensure adequate time for any software download that may be necessary.

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

Internet Posting of Information

We routinely post information that may be important to investors in the 'Investors' section of our website at http://www.sarepta.com . We encourage investors and potential investors to consult our website regularly for important information about us.

Source: Sarepta Therapeutics, Inc.

Sarepta Therapeutics, Inc.

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

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

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Alnylam Wins Prestigious Prix Galien Award for Best Biotechnology Product with First-Ever Approved RNAi Therapeutic, ONPATTRO (patisiran) – BioSpace

Saturday, October 31st, 2020

Oct. 30, 2020 11:00 UTC

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Alnylam Pharmaceuticals, Inc. (Nasdaq: ALNY), the leading RNAi therapeutics company, today announced it has won the 2020 Prix Galien USA Award for Best Biotechnology Product for ONPATTRO (patisiran). The award, which recognizes excellence in scientific innovation that improves the state of human health, was presented by the Galien Foundation during the 50th Annual Prix Galien USA Awards ceremony yesterday.

We are thrilled to receive this prestigious recognition for ONPATTRO and want to share this award with the incredible patients, caregivers, scientists, healthcare professionals, and colleagues that helped us succeed in making RNAi therapeutics, an entirely new class of medicines, a reality for patients, said John Maraganore, Ph.D., Chief Executive Officer of Alnylam. The breakthrough approval of ONPATTRO was a result of nearly two decades of determination to deliver the first-ever FDA-approved treatment to adult patients living with the polyneuropathy of hereditary ATTR (hATTR) amyloidosis. We also want to recognize the continued industry efforts in helping those living with this progressive, debilitating condition.

In 2019, ONPATTRO won the Prix Galien Award for Best Biotechnology Product in Italy and the Netherlands.

About ONPATTRO (patisiran)

ONPATTRO is an RNAi therapeutic that was approved in the United States and Canada for the treatment of the polyneuropathy of hATTR amyloidosis in adults. ONPATTRO is also approved in the European Union, Switzerland and Brazil for the treatment of hATTR amyloidosis in adults with Stage 1 or Stage 2 polyneuropathy, and in Japan for the treatment of hATTR amyloidosis with polyneuropathy. ONPATTRO is an intravenously administered RNAi therapeutic targeting transthyretin (TTR). It is designed to target and silence TTR messenger RNA, thereby blocking the production of TTR protein before it is made. ONPATTRO blocks the production of TTR in the liver, reducing its accumulation in the bodys tissues in order to halt or slow down the progression of the polyneuropathy associated with the disease. For more information about ONPATTRO, visit ONPATTRO.com.

ONPATTRO (patisiran) lipid complex injection Important Safety Information

Infusion-Related Reactions

Infusion-related reactions (IRRs) have been observed in patients treated with ONPATTRO. In a controlled clinical study, 19 percent of ONPATTRO-treated patients experienced IRRs, compared to 9 percent of placebo-treated patients. The most common symptoms of IRRs with ONPATTRO were flushing, back pain, nausea, abdominal pain, dyspnea, and headache.

To reduce the risk of IRRs, patients should receive premedication with a corticosteroid, acetaminophen, and antihistamines (H1 and H2 blockers) at least 60 minutes prior to ONPATTRO infusion. Monitor patients during the infusion for signs and symptoms of IRRs. If an IRR occurs, consider slowing or interrupting the infusion and instituting medical management as clinically indicated. If the infusion is interrupted, consider resuming at a slower infusion rate only if symptoms have resolved. In the case of a serious or life-threatening IRR, the infusion should be discontinued and not resumed.

Reduced Serum Vitamin A Levels and Recommended Supplementation

ONPATTRO treatment leads to a decrease in serum vitamin A levels. Supplementation at the recommended daily allowance (RDA) of vitamin A is advised for patients taking ONPATTRO. Higher doses than the RDA should not be given to try to achieve normal serum vitamin A levels during treatment with ONPATTRO, as serum levels do not reflect the total vitamin A in the body.

Patients should be referred to an ophthalmologist if they develop ocular symptoms suggestive of vitamin A deficiency (e.g. night blindness).

Adverse Reactions

The most common adverse reactions that occurred in patients treated with ONPATTRO were upper respiratory-tract infections (29 percent) and infusion-related reactions (19 percent).

For additional information about ONPATTRO, please see the full Prescribing Information.

About hATTR Amyloidosis

Hereditary transthyretin (TTR)-mediated amyloidosis (hATTR) is an inherited, progressively debilitating, and often fatal disease caused by mutations in the TTR gene. TTR protein is primarily produced in the liver and is normally a carrier of vitamin A. Mutations in the TTR gene cause abnormal amyloid proteins to accumulate and damage body organs and tissue, such as the peripheral nerves and heart, resulting in intractable peripheral sensory-motor neuropathy, autonomic neuropathy, and/or cardiomyopathy, as well as other disease manifestations. hATTR amyloidosis, represents a major unmet medical need with significant morbidity and mortality affecting approximately 50,000 people worldwide. The median survival is 4.7 years following diagnosis, with a reduced survival (3.4 years) for patients presenting with cardiomyopathy.

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 Pharmaceuticals

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, Brazil and Canada. 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 http://www.alnylam.com and engage with us on Twitter at @Alnylam or on LinkedIn.

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QurAlis Announces Appointment of New Chief Medical Officer and Formation of Clinical Advisory Board – BioSpace

Saturday, October 31st, 2020

Oct. 29, 2020 12:00 UTC

Rare disease and neurology expert Dr. Angela Genge to lead QurAlis clinical R&D for ALS and FTD

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- QurAlis Corporation, a biotech company focused on developing precision medicines for amyotrophic lateral sclerosis (ALS) and other neurologic diseases, today announced the appointment of Angela Genge, MD, FRCP(C), eMBA to the position of Chief Medical Officer (CMO). Dr. Genge is the Executive Director of the Montreal Neurological Institutes Clinical Research Unit and the Director of Montreal Neurological Hospitals ALS Global Center of Excellence.

The company also announced the formation of its Clinical Advisory Board, which will work closely with Dr. Genge on QurAlis clinical research and development programs in ALS and frontotemporal dementia (FTD) as the company prepares to move its pipeline to the clinical stage.

As QurAlis grows and advances quickly toward the clinic, we are proud to welcome to the team Dr. Genge, a world-renowned expert in ALS clinical drug development, and announce the highly esteemed group of ALS experts who will be forming our Clinical Advisory Board, said Kasper Roet, PhD, Chief Executive Officer of QurAlis. Dr. Genge has been treating patients and studying and developing therapeutics and clinical trials for ALS and other rare neurologic diseases for more than 25 years, diligently serving these vulnerable patient populations. Along with our newly formed Clinical Advisory Board, having a CMO with this extensive expertise, understanding and experience is invaluable to our success. Dr. Genge and our Board members are tremendous assets for our team who will undoubtedly help us advance on the best path toward the clinic, and we look forward to working with them to conquer ALS.

Previously, Dr. Genge directed other clinics at the Montreal Neurological Hospital including the Neuromuscular Disease Clinic and the Neuropathic Pain Clinic. In 2014, she was a Distinguished Clinical Investigator in Novartis Global Neuroscience Clinical Development Unit, and she has served as an independent consultant for dozens of companies developing and launching neurological therapeutics. Dr. Genge has served in professorial positions at McGill University since 1994.

At this pivotal period in its journey, QurAlis is equipped with a strong, committed leadership team and promising precision medicine preclinical assets, and I look forward to joining the company as CMO, said Dr. Genge. This is an exciting opportunity to further strengthen my work in ALS and other neurological diseases, and I intend to continue innovating and expanding possibilities for the treatment of rare neurological diseases alongside the dedicated QurAlis team.

QurAlis new Clinical Advisory Board Members are:

Dr. Al-Chalabi is a Professor of Neurology and Complex Disease Genetics at the Maurice Wohl Clinical Neuroscience Institute, Head of the Department of Basic and Clinical Neuroscience, and Director of the Kings Motor Neuron Disease Care and Research Centre. Dr. Al-Chalabi trained in medicine in Leicester and London, and subsequently became a consultant neurologist at Kings College Hospital.

Dr. Andrews is an Associate Professor of Neurology in the Division of Neuromuscular Medicine at Columbia University, and serves as the Universitys Director of Neuromuscular Clinical Trials. She currently oversees neuromuscular clinical trials and cares for patients with neuromuscular disease, primarily with ALS. Dr. Andrews is the elected co-chair of the Northeastern ALS (NEALS) Consortium and is also elected to the National Board of Trustees of the ALS Association.

Dr. Cudkowicz is the Julianne Dorn Professor of Neurology at Harvard Medical School and Chief of Neurology and Director of the Sean M. Healey & AMG Center for ALS at Mass General Hospital. As co-founder and former co-chair of the Northeast ALS Consortium, she accelerated the development of ALS treatments for people with ALS, leading pioneering trials using antisense oligonucleotides, new therapeutic treatments and adaptive trial designs. Through the Healey Center at Mass General, she is leading the first platform trial for people with ALS.

Dr. Shaw serves as Director of the Sheffield Institute for Translational Neuroscience, the NIHR Biomedical Research Centre Translational Neuroscience for Chronic Neurological Disorders, and the Sheffield Care and Research Centre for Motor Neuron Disorders. She also serves as Consultant Neurologist at the Sheffield Teaching Hospitals NHS Foundation Trust. Since 1991, she has led a major multidisciplinary program of research investigating genetic, molecular and neurochemical factors underlying neurodegenerative disorders of the human motor system.

Dr. Van Damme is a Professor of Neurology and director of the Neuromuscular Reference Center at the University Hospital Leuven in Belgium. He directs a multidisciplinary team for ALS care and clinical research that is actively involved in ALS clinical trials, but is also working on the genetics of ALS, biomarkers of ALS, and disease mechanisms using different disease models, including patient-derived induced pluripotent stem cells.

Dr. van den Berg is a professor of neurology who holds a chair in experimental neurology of motor neuron diseases at the University Medical Center Utrecht in the Netherlands. He also is director of the centers Laboratory for Neuromuscular Disease, director of the Netherlands ALS Center, chairman of the Neuromuscular Centre the Netherlands, and chairman of the European Network to Cure ALS (ENCALS), a network of the European ALS Centres.

About ALS

Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrigs disease, is a progressive neurodegenerative disease impacting nerve cells in the brain and spinal cord. ALS breaks down nerve cells, reducing muscle function and causing loss of muscle control. ALS can be traced to mutations in over 25 different genes and is often caused by a combination of multiple sub-forms of the condition. Its average life expectancy is three years, and there is currently no cure for the disease.

About QurAlis Corporation

QurAlis is bringing hope to the ALS community by developing breakthrough precision medicines for this devastating disease. Our stem cell technologies generate proprietary human neuronal models that enable us to more effectively discover and develop innovative therapies for genetically validated targets. We are advancing three antisense and small molecule programs addressing sub-forms of the disease that account for the majority of patients. Together with a world-class network of thought leaders, drug developers and patient advocates, our team is rising to the challenge of conquering ALS. http://www.quralis.com

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ETFs in Focus on Bayer’s Bet on Gene Therapy – Zacks.com

Saturday, October 31st, 2020

Merger and acquisition activities have heated up in recent months and the niche spaces are in the limelight. After the telemedicine industry, gene therapy stocks jumped on the bandwagon. Gene therapy is a technique that uses genes to treat or prevent disease.

German drugmaker Bayer has made a big bet on gene therapy by announcing the acquisition of U.S. biotech firm Asklepios BioPharmaceutical for as much as $4 billion. The proposed acquisition will provide Bayer access to the adeno-associated virus (AAV) gene therapy platform and a pipeline led by clinical-phase treatments for Parkinsons, Pompe disease and congestive heart failure. Notably, AAV therapies offer improved efficacy, immune response, and tissue and organ specificity.

Additionally, the transaction will complements Bayers 2019 acquisition of BlueRock Therapeutics and advances its efforts to create platforms with the potential to have an impact on multiple therapeutic areas (read: Genomics ETFs Surge on Nobel Prize for Gene-Editing Pioneers).

Under the terms of the deal, Bayer will pay an upfront consideration of $2 billion and potential success-based milestone payments of up to $ billion. About 75 % of the potential milestone-based contingent payments are expected to be due during the course of the next five years and the remaining amount thereafter.

The deal, pending regulatory approvals, is expected to close during the fourth quarter of 2020. Once the deal closes, Bayer will allow Asklepios, known as AskBio, to operate autonomously as part of a new cell and gene therapy unit in a bid to preserve its entrepreneurial culture. The cell and gene therapy unit will bundle Bayer's activities in this area moving forward in order to establish an innovation ecosystem for the participating partners, the German company said (see: all the Healthcare ETFs here).

The proposed deal will provide a boost to the gene therapy industry. Below, we have highlighted four ETFs that are expected to benefit from Bayers entrance into the gene therapy space:

ARK Genomic Revolution Multi-Sector ETF (ARKG - Free Report)

This actively managed ETF is focused on companies that are likely to benefit from extending and enhancing the quality of human and other life by incorporating technological and scientific developments, and advancements in genomics into their business. With AUM of $2.9 billion, the fund holds 47 stocks in its basket and has 0.75% in expense ratio. It trades in an average daily volume of 978,000 shares (read: 4 Sector ETFs That Have Doubled This Year).

Invesco Dynamic Biotechnology & Genome ETF (PBE - Free Report)

This fund follows the Dynamic Biotech & Genome Intellidex Index and provides exposure to companies engaged in the research, development, manufacture and marketing and distribution of various biotechnological products, services and processes and companies that benefit significantly from scientific and technological advances in biotechnology and genetic engineering and research. It holds 31 stocks in its basket and charges 57 bps in annual fees. The ETF has managed $229.9 million in its asset base while trades in a light volume of 6,000 shares per day. Expense ratio comes in at 0.57%. The product has a Zacks ETF Rank #3 (Hold) with a High risk outlook.

Global X Genomics & Biotechnology ETF (GNOM - Free Report)

This product seeks to invest in companies that potentially stand to benefit from further advances in the field of genomic science, such as companies involved in gene editing, genomic sequencing, genetic medicine/therapy, computational genomics and biotechnology. It follows the Solactive Genomics Index, holding 40 stocks in its basket. This ETF has accumulated $68 million in its asset base and charges 50 bps in annual fees. It trades in average daily volume of 31,000 shares (read: Why You Should Invest in Genomics ETFs).

iShares Genomics Immunology and Healthcare ETF (IDNA - Free Report)

This ETF provides access to companies at the forefront of genomics and immunology innovation by tracking the NYSE FactSet Global Genomics and Immuno Biopharma Index. Holding 46 stocks in its basket, the fund has gathered $166.2 million in AUM and trades in moderate average daily volume of 58,000 shares. It charges 47 bps in annual fees.

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Angelika Amon, cell biologist who pioneered research on chromosome imbalance, dies at 53 – MIT News

Saturday, October 31st, 2020

Angelika Amon, professor of biology and a member of the Koch Institute for Integrative Cancer Research, died on Oct. 29 at age 53, following a two-and-a-half-year battle with ovarian cancer.

"Known for her piercing scientific insight and infectious enthusiasm for the deepest questions of science, Professor Amon built an extraordinary career and in the process, a devoted community of colleagues, students and friends," MIT President L. Rafael Reif wrote in a letter to the MIT community.

Angelika was a force of nature and a highly valued member of our community, reflects Tyler Jacks, the David H. Koch Professor of Biology at MIT and director of the Koch Institute. Her intellect and wit were equally sharp, and she brought unmatched passion to everything she did. Through her groundbreaking research, her mentorship of so many, her teaching, and a host of other contributions, Angelika has made an incredible impact on the world one that will last long into the future.

A pioneer in cell biology

From the earliest stages of her career, Amon made profound contributions to our understanding of the fundamental biology of the cell, deciphering the regulatory networks that govern cell division and proliferation in yeast, mice, and mammalian organoids, and shedding light on the causes of chromosome mis-segregation and its consequences for human diseases.

Human cells have 23 pairs of chromosomes, but as they divide they can make errors that lead to too many or too few chromosomes, resulting in aneuploidy. Amons meticulous and rigorous experiments, first in yeast and then in mammalian cells, helped to uncover the biological consequences of having too many chromosomes. Her studies determined that extra chromosomes significantly impact the composition of the cell, causing stress in important processes such as protein folding and metabolism, and leading to additional mistakes that could drive cancer. Although stress resulting from aneuploidy affects cells ability to survive and proliferate, cancer cells which are nearly universally aneuploid can grow uncontrollably. Amon showed that aneuploidy disrupts cells usual error-repair systems, allowing genetic mutations to quickly accumulate.

Aneuploidy is usually fatal, but in some instances extra copies of specific chromosomes can lead to conditions such as Down syndrome and developmental disorders including those known as Patau and Edwards syndromes. This led Amon to work to understand how these negative effects result in some of the health problems associated specifically with Down syndrome, such as acute lymphoblastic leukemia. Her expertise in this area led her to be named co-director of the recently established Alana Down Syndrome Center at MIT.

Angelikas intellect and research were as astonishing as her bravery and her spirit. Her labs fundamental work on aneuploidy was integral to our establishment of the center, say Li-Huei Tsai, the Picower Professor of Neuroscience and co-director of the Alana Down Syndrome Center. Her exploration of the myriad consequences of aneuploidy for human health was vitally important and will continue to guide scientific and medical research.

Another major focus of research in the Amon lab has been on the relationship between how cells grow, divide, and age. Among other insights, this work has revealed that once cells reach a certain large size, they lose the ability to proliferate and are unable to reenter the cell cycle. Further, this growth contributes to senescence, an irreversible cell cycle arrest, and tissue aging. In related work, Amon has investigated the relationships between stem cell size, stem cell function, and tissue age. Her labs studies have found that in hematopoetic stem cells, small size is important to cells ability to function and proliferate in fact, she posted recent findings on bioRxiv earlier this week and have been examining the same questions in epithelial cells as well.

Amon lab experiments delved deep into the mechanics of the biology, trying to understand the mechanisms behind their observations. To support this work, she established research collaborations to leverage approaches and technologies developed by her colleagues at the Koch Institute, including sophisticated intestinal organoid and mouse models developed by the Yilmaz Laboratory, and a microfluidic device developed by the Manalis Laboratory for measuring physical characteristics of single cells.

The thrill of discovery

Born in 1967, Amon grew up in Vienna, Austria, in a family of six. Playing outside all day with her three younger siblings, she developed an early love of biology and animals. She could not remember a time when she was not interested in biology, initially wanting to become a zoologist. But in high school, she saw an old black-and-white film from the 1950s about chromosome segregation, and found the moment that the sister chromatids split apart breathtaking. She knew then that she wanted to study the inner workings of the cell and decided to focus on genetics at the University of Vienna in Austria.

After receiving her BS, Amon continued her doctoral work there under Professor Kim Nasmyth at the Research Institute of Molecular Pathology, earning her PhD in 1993. From the outset, she made important contributions to the field of cell cycle dynamics. Her work on yeast genetics in the Nasmyth laboratory led to major discoveries about how one stage of the cell cycle sets up for the next, revealing that cyclins, proteins that accumulate within cells as they enter mitosis, must be broken down before cells pass from mitosis to G1, a period of cell growth.

Towards the end of her doctorate, Amon became interested in fruitfly genetics and read the work of Ruth Lehmann, then a faculty member at MIT and a member of the Whitehead Institute. Impressed by the elegance of Lehmanns genetic approach, she applied and was accepted to her lab. In 1994, Amon arrived in the United States, not knowing that it would become her permanent home or that she would eventually become a professor.

While Amons love affair with fruitfly genetics would prove short, her promise was immediately apparent to Lehmann, now director of the Whitehead Institute. I will never forget picking Angelika up from the airport when she was flying in from Vienna to join my lab. Despite the long trip, she was just so full of energy, ready to talk science, says Lehmann. She had read all the papers in the new field and cut through the results to hit equally on the main points.

But as Amon frequently was fond of saying, yeast will spoil you. Lehmann explains that because they grow so fast and there are so many tools, your brain is the only limitation. I tried to convince her of the beauty and advantages of my slower-growing favorite organism. But in the end, yeast won and Angelika went on to establish a remarkable body of work, starting with her many contributions to how cells divide and more recently to discover a cellular aneuploidy program.

In 1996, after Lehmann had left for New York Universitys Skirball Institute, Amon was invited to become a Whitehead Fellow, a prestigious program that offers recent PhDs resources and mentorship to undertake their own investigations. Her work on the question of how yeast cells progress through the cell cycle and partition their chromosomes would be instrumental in establishing her as one of the worlds leading geneticists. While at Whitehead, her lab made key findings centered around the role of an enzyme called Cdc14 in prompting cells to exit mitosis, including that the enzyme is sequestered in a cellular compartment called the nucleolus and must be released before the cell can exit.

I was one of those blessed to share with her a eureka moment, as she would call it, says Rosella Visintin, a postdoc in Amons lab at the time of the discovery and now an assistant professor at the European School of Molecular Medicine in Milan. She had so many. Most of us are lucky to get just one, and I was one of the lucky ones. Ill never forget her smile and scream neither will the entire Whitehead Institute when she saw for the first time Cdc14 localization: You did it, you did it, you figured it out! Passion, excitement, joy everything was in that scream.

In 1999, Amons work as a Whitehead Fellow earned her a faculty position in the MIT Department of Biology and the MIT Center for Cancer Research, the predecessor to the Koch Institute. A full professor since 2007, she also became the Kathleen and Curtis Marble Professor in Cancer Research, associate director of the Paul F. Glenn Center for Biology of Aging Research at MIT, a member of the Ludwig Center for Molecular Oncology at MIT, and an investigator of the Howard Hughes Medical Institute.

Her pathbreaking research was recognized by several awards and honors, including the 2003 National Science Foundation Alan T. Waterman Award, the 2007 Paul Marks Prize for Cancer Research, the 2008 National Academy of Sciences (NAS) Award in Molecular Biology, and the 2013 Ernst Jung Prize for Medicine. In 2019, she won the Breakthrough Prize in Life Sciences and the Vilcek Prize in Biomedical Science, and was named to the Carnegie Corporation of New Yorks annual list of Great Immigrants, Great Americans. This year, she was given the Human Frontier Science Program Nakasone Award. She was also a member of the NAS and the American Academy of Arts and Sciences.

Lighting the way forward

Amons perseverance, deep curiosity, and enthusiasm for discovery served her well in her roles as teacher, mentor, and colleague. She has worked with many labs across the world and developed a deep network of scientific collaboration and friendships. She was a sought-after speaker for seminars and the many conferences she attended. In over 20 years as a professor at MIT, she has mentored more than 80 postdocs, graduate students, and undergraduates, and received the School of Sciences undergraduate teaching prize.

Angelika was an amazing, energetic, passionate, and creative scientist, an outstanding mentor to many, and an excellent teacher, says Alan Grossman, the Praecis Professor of Biology and head of MITs Department of Biology. Her impact and legacy will live on and be perpetuated by all those she touched.

Angelika existed in a league of her own, explains Kristin Knouse, one of Amons former graduate students and a current Whitehead Fellow. She had the energy and excitement of someone who picked up a pipette for the first time, but the brilliance and wisdom of someone who had been doing it for decades. Her infectious energy and brilliant mind were matched by a boundless heart and tenacious grit. She could glance at any data and immediately deliver a sharp insight that would never have crossed any other mind. Her positive attributes were infectious, and any interaction with her, no matter how transient, assuredly left you feeling better about yourself and your science.

Taking great delight in helping young scientists find their own eureka moments, Amon was a fearless advocate for science and the rights of women and minorities and inspired others to fight as well. She was not afraid to speak out in support of the research and causes she believed strongly in. She was a role model for young female scientists and spent countless hours mentoring and guiding them in a male-dominated field. While she graciously accepted awards for women in science, including the Vanderbilt Prize and the Women in Cell Biology Senior Award, she questioned the value of prizes focused on women as women, rather than on their scientific contributions.

Angelika Amon was an inspiring leader, notes Lehmann, not only by her trailblazing science but also by her fearlessness to call out sexism and other -isms in our community. Her captivating laugh and unwavering mentorship and guidance will be missed by students and faculty alike. MIT and the science community have lost an exemplary leader, mentor, friend, and mensch.

Amons wide-ranging curiosity led her to consider new ideas beyond her own field. In recent years, she has developed a love for dinosaurs and fossils, and often mentioned that she would like to study terraforming, which she considered essential for a human success to life on other planets.

It was always amazing to talk with Angelika about science, because her interests were so deep and so broad, her intellect so sharp, and her enthusiasm so infectious, remembers Vivian Siegel, a lecturer in the Department of Biology and friend since Amons postdoctoral days. Beyond her own work in the lab, she was fascinated by so many things, including dinosaurs dreaming of taking her daughters on a dig lichen, and even life on Mars.

Angelika was brilliant; she illuminated science and scientists, says Frank Solomon, professor of biology and member of the Koch Institute. And she was intense; she warmed the people around her, and expanded what it means to be a friend.

Amon is survived by her husband Johannes Weis, and her daughters Theresa and Clara Weis, and her three siblings and their families.

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Better Repair of Nerve Insulation May Lead to New MS Treatments – Multiple Sclerosis News Today

Saturday, October 31st, 2020

There may be a better way of repairing the insulation surrounding damaged neurons that could lead to new treatments for multiple sclerosis (MS), a study suggests.

The data showed that blocking the protein sphingomyelin hydrolase neutral sphingomyelinase 2, or nSMase2, could improve the quality of the myelin surrounding nerve cell fibers, and stabilize its structure. nSMase2 is responsible for breaking down sphingomyelin, which is a type of lipid (fat) molecule present in that protective myelin sheath.

The study, Inhibition of neutral sphingomyelinase 2 promotes remyelination, was published in the journal Science Advances.

MS is caused by the attack by immune cells to the bodys own myelin, a fatty insulation provided by oligodendrocyte cells that cover the long branches that extend from nerve cells, which are called axons. When myelin is destroyed called demyelination the connections between neurons become defective and MS symptoms arise.

Most individuals with relapsing-remitting MS (RRMS), an intermittent form of multiple sclerosis, have acute episodes of demyelination. RRMS may evolve to secondary progressive MS (SPMS), in which progressive neurological deterioration occurs and myelin can no longer repair itself.

Suppressing the immune system has worked to treat relapsing-remitting MS, but it doesnt protect from the eventual advancement to progressive MS, for which there arent any good treatments on the market, Norman Haughey, PhD, professor of neurology at the Johns Hopkins University School of Medicine and the studys senior author, said in a press release.

Now, a team led by researchers at Johns Hopkins suggested that the use of certain compounds may be able to prevent RRMS from evolving to SPMS.

In previous studies, the team analyzed the composition of the myelin surrounding nerves near injury sites in the brain tissue of cadavers with MS. Compared with other nerves, these looked misshapen and had higher levels of ceramide and lower levels of sulfatide both lipid (fat) molecules.

Ceramide plays a role in MS by regulating the curvature and compaction of myelin. However, when in excess, it can form bumps on the surface of myelin preventing it from wrapping tightly around nerves.

In the new study, the team analyzed modifications in the lipid composition of myelin following remyelination in cuprizone-treated mice a mouse model of MS in which myelin loss and oligodendrocyte destruction are caused by the toxic agent cuprizone. Cuprizone was given to the mice through their diet for 26 days.

The results showed that the myelin was able to repair itself, although the increase of ceramide produced a disorganized and decompacted myelin structure. The researchers believe the overproduction of ceramide during remyelination is the result of the action of the enzyme nSMase2 that converts sphingomyelin to ceramide. nSMase2 is activated by brain inflammation.

Oligodendrocyte progenitor cells (OPCs) are activated and recruited to damaged sites following demyelination. These cells then differentiate into myelinating oligodendrocytes to repair denuded axons. For oligodendrocyte regeneration, inflammation is functionally important.

The scientists showed that inflammatory cytokines, namely tumor necrosis factor-alpha (TNF-alpha) and interleukin-1beta (IL-1beta), promote a protective and regenerative response in OPCs. However, that turns into a harmful response, promoting apoptosis (cell death) as the OPCs differentiate into oligodendrocytes.

Moreover, in experiments using antibodies (immunostaining), the researchers found that the response of OPCs and oligodendrocytes to inflammatory cytokines may be regulated by the nSMase2 enzyme. Through further investigation, the team found that the expression of nSMase2 modifies the cellular response to inflammatory cytokines such as TNF-alpha.

Our findings suggest that expression of nSMase2 modifies the cellular response to inflammation, from being protective in OPCs (when nSMase2 is not expressed) to damaging in myelinating oligodendrocytes, the researchers wrote.

The team then assessed whether pharmacological inhibition of nSMase2 protected myelinated axons. This was done by testing cambinol, a compound that blocks nSMase, in the cuprizone mouse model. The results showed that blocking nSMase2 prevented the increased production of ceramide and its incorporation in regenerated myelin.

Next, the researchers determined whether inhibition of nSMase2 during the remyelination process modified the lipid content of myelin. The mice were fed a cuprizone-containing diet for 28 days, to induce myelin damage. This was followed by cambinol for 28 days, after which the mice were returned to a normal diet.

Cambinol treatment caused the myelin to grow back tightly around the nerve cells; the myelin produced appeared as it did before the cuprizone-induced damage. The treatment did not completely restore the lipid composition of myelin, but appeared to increase its stability protecting neurons, the team noted.

Finally, genetic deletion of nSMase2 in myelinating oligodendrocytes also was found to normalize the amount of ceramide and increase the thickness and compaction of myelin, thus stabilizing the structure of remyelinated axons.

Pharmacological inhibition or genetic deletion of nSMase2 in myelinating oligodendrocytes normalized the ceramide content of remyelinated fibers and increased thickness and compaction. These results suggest that inhibition of nSMase2 could improve the quality of myelin and stabilize structure, the researchers wrote, adding that amore stable myelin structure is likely to be less susceptible to secondary demyelination.

We think these findings are a big step toward improving the quality and composition of myelin following a flare-up, Haughey said.

The team now plans to determine the impacts of other abnormal lipid levels, apart from ceramide, and determine if myelin maintains its function when returned to its correct structure. After this, the researchers hope it will be possible to consider inhibitors of nSMase2 for use in human trials.

Diana holds a PhD in Biomedical Sciences, with specialization in genetics, from Universidade Nova de Lisboa, Portugal. Her work has been focused on enzyme function, human genetics and drug metabolism.

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Patrcia holds her PhD in Medical Microbiology and Infectious Diseases from the Leiden University Medical Center in Leiden, The Netherlands. She has studied Applied Biology at Universidade do Minho and was a postdoctoral research fellow at Instituto de Medicina Molecular in Lisbon, Portugal. Her work has been focused on molecular genetic traits of infectious agents such as viruses and parasites.

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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

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

http://www.precisionnanosystems.com

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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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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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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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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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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 ResearchAndMarkets.com'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

11.2.1.1 Diagnostics

11.2.1.1.1 Cancer Diagnostics

11.2.1.1.2 Infectious Disease Diagnostics

11.2.1.1.3 Rare Disease Diagnostics

11.2.1.1.4 Other Diagnostics

11.2.1.2 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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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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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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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:https://www.hindawi.com/journals/jp/2020/4592450/

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