Category Archives: Genetic medicine

Published on August 11, 2020

Researchers from MedUniVienna have successfully identified a blockade of compounds that activate a rare mutation found in malignant mesothelioma cells, thus halting their unrestricted growth. This highly specific approach makes clear that the best way to treat this rare and fatal form of cancer is through a highly tailored approach.

The mesothelioma investigators focused on the impact that telomerase has on the growth and spread of cancer cells. Telomerase is an enzyme that is active in rapidly dividing cells in our bodies. Though it plays a positive role in most instances, it also facilitates many types of cancer growth and is found in excessive amounts in mesothelioma patients.

The researchers determined that a particularly aggressive subgroup of malignant pleural mesothelioma cells have a distinct genetic mutation that serves to promote the production of the TERT gene, which plays an outsized role in the activation of telomerase. Through this discovery, they were able to identify a new treatment strategy for those suffering from the rare form of cancer and who test positive for the mutation.

Writing in the journalClinical Cancer Research, the researchers explained that the mutation they identified is found in the regulatory region of the cancer cell, which determines how much of a protein is produced. Previous cancer studies have shown that mutations activating the TERT gene are found in families with high genetic tendencies towards cancer, and are associated with other highly aggressive tumors like melanoma and glioblastoma.

Though the TERT gene mutation is only present in a small subgroup of patients diagnosed with malignant pleural mesothelioma, those that have it generally have an extremely poor prognosis. The researchers found that by inhibiting a specific protein linked to the activation of the mutated TERT gene, they were able to block its aggressiveness. According to Walter Berger, Member, Comprehensive Cancer Center, Institute of Cancer Research, Medical University of Vienna, We are currently investigating whether a pharmacological blockade of the ETS factors has potential as a new treatment option for patients with TERT promoter-mutated MPM. If this proves to be the case, the mutation would be both a biomarker for the selection of suitable patients and a therapeutic target an ideal combination for precision medicine.

Every person diagnosed with malignant pleural mesothelioma has a different story of exposure and a different experience with the disease. The Patient Advocates at Mesothelioma.net are here to help you make sense of your situation. Contact us today at 1-800-692-8608.

Learn more about and contact Terri

Visit link:
Vienna Researchers' Mesothelioma Discovery Highlights Use of Precision Medicine - Mesothelioma.net Blog

What happened

Shares of Editas Medicine (NASDAQ:EDIT) and Beam Therapeutics (NASDAQ:BEAM) rose as much as 23% and 29%, respectively, today after the pair were rumored to be considering a merger. Although investors shouldn't invest based on speculation, a merger would make sense on multiple fronts.

The duo already have an agreement in place to collaborate on genetic medicines, but the struggling pipeline of Editas Medicine could receive a significant boost from Beam Therapeutics. It would also allow Editas shareholders to avoid many of the technical pitfalls of first-generation CRISPR gene-editing tools, which have yet to be adequately reflected in stock prices. Of course, the flip side is that the merger doesn't make as much sense for Beam Therapeutics.

As of 12:50 p.m. EDT, both small-cap stocks had settled to gains of about 14%.

Image source: Getty Images.

There are multiple reasons a merger makes sense. Consider that:

There's not much to the report that Editas Medicine and Beam Therapeutics are considering a merger. Only one digital publication mentions "chatter" without providing any follow-up details. The rumors are at least plausible given the ties to the Broad Institute and overlap of the scientific founders, but investors simply don't have much to go on. That said, a merger would make more sense for Editas Medicine than Beam Therapeutics, as the latter has a much stronger technical foundation to lean on for the long haul.

Original post:
Here's Why Shares of Editas Medicine and Beam Therapeutics Are Soaring Today - Motley Fool

News Release

Thursday, August 6, 2020

National Institutes of Health Director Francis S. Collins, M.D., Ph.D., has selected Lindsey A. Criswell, M.D., M.P.H., D.Sc., as director of NIHs National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). A rheumatologist, Dr. Criswell is currently the vice chancellor of research at the University of California, San Francisco (UCSF). She is a professor of rheumatology in UCSFs Department of Medicine, as well as a professor of orofacial sciences in its School of Dentistry. She is expected to begin her new role as the NIAMS director in early 2021. She will succeed long-time directorStephen I. Katz, M.D., Ph.D., who passed away suddenly in December 2018.

Dr. Criswell has rich experience as a clinician, researcher and administrator. Her ability to oversee the research program of one of the countrys top research-intensive medical schools, and her expertise in autoimmune diseases, including rheumatoid arthritis and lupus, make her well-positioned to direct NIAMS, said Dr. Collins. I look forward to having her join the NIH leadership team early next year. I also want to thank Robert H. Carter, M.D., for his exemplary work as the acting director of NIAMS since December 2018.

As NIAMS director, Dr. Criswell will oversee the institutes annual budget of nearly $625 million, which supports research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases. The institute advances health through biomedical and behavioral research, research training and dissemination of information on research progress in these diseases.

The NIAMS Division of Extramural Research supports scientific studies and research training and career development throughout the country through grants and contracts to research organizations in fields that include rheumatology, muscle biology, orthopaedics, bone and mineral metabolism and dermatology. NIAMS-supported research addresses some of the most common and disabling chronic diseases that affect almost every household in America.

Dr. Criswell has been a principal investigator on multiple NIH grants since 1994 and has published more than 200 peer-reviewed journal papers. Her research focuses on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and systemic lupus erythematosus. Using genome-wide association and other genetic studies, her research team contributed to the identification of more than 30 genes linked to these disorders.

Dr. Criswells many honors include the Kenneth H. Fye, M.D., endowed chair in rheumatology and the Jean S. Engleman Distinguished Professorship in Rheumatology at UCSF, and the Henry Kunkel Young Investigator Award from the American College of Rheumatology. She also received UCSFs 2014 Resident Clinical and Translational Research Mentor of the Year. During her career, she has mentored some four dozen students (high school through medical/graduate school), medical residents, postdoctoral fellowsand junior faculty.

Dr. Criswell earned a bachelors degree in genetics and a masters degree in public health from the University of California, Berkeley; a D.Sc. in genetic epidemiology from the Netherlands Institute of Environmental Health Sciences, Rotterdam; and an M.D. from UCSF. In addition to completing a residency in internal medicine and a fellowship in rheumatology, she is certified as a first responder in wilderness medicine.

The mission of the NIAMS, a part of the U.S. Department of Health and Human Services' National Institutes of Health (NIH), is to support research into the causes, treatment and prevention of arthritis and musculoskeletal and skin diseases; the training of basic and clinical scientists to carry out this research; and the dissemination of information on research progress in these diseases. For more information about the NIAMS, call the information clearinghouse at (301) 495-4484 or (877) 22-NIAMS (free call) or visit the NIAMS website at https://niams.nih.gov.

About the National Institutes of Health (NIH):NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.

NIHTurning Discovery Into Health

###

See more here:
NIH taps Dr. Lindsey Criswell as director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases - National Institutes of Health

Weill Cornell Medicines Clinical and Translational Science Center (CTSC) has been awarded a grant from the National Institutes of Health to investigate the role of social and biological factors in determining COVID-19 severity and outcomes in New York City patients.

The two-year, $1.5 million grant will fund projects led by Dr. Julianne Imperato-McGinley, director of the CTSC and The Abby Rockefeller Mauz Distinguished Professor of Endocrinology in Medicine at Weill Cornell Medicine.

The projects co-leaders are Dr. Olivier Elemento, director of the Englander Institute for Precision Medicine and professor of computational genomics in pathology and laboratory medicine at Weill Cornell; and Dr. Said Ibrahim, professor of health care policy and research and senior associate dean for diversity and inclusion at Weill Cornell.

Black and Latino populations have suffered a significantly higher proportion of infection and death from COVID-19 in New York City and across the country. Social determinants of health including lack of access to adequate medical care, crowded housing and exposure from ones occupation can influence the likelihood of acquiring COVID-19.

Co-morbidities such as obesity, diabetes and lung and heart disease that put people at risk for severe illness are also more common in Black and Latino populations.

To assess how socioeconomic factors have contributed to the racial and ethnic disparities, the investigators will compare rates of hospitalization, intensive care unit admissions and deaths from COVID-19 in affluent versus lower income communities within New York City. They will also use data from patients across the NewYork-Presbyterian Hospital system to study patterns in demographics, laboratory results and biospecimens to determine if theres a link between genetic variability, race and ethnicity and severity of COVID-19.

The project builds on Weill Cornell Medicines vision of a clinical research program that combines clinical care, investigation into social determinants of health and basic science research. Leveraging CTSC infrastructure, this approach brings together sources like census and other government data, electronic health records and the institutions newly created biobank of COVID-19 patient specimens.

The team plans to use its findings to build a model to predict who is most susceptible to the disease, which can help shape prevention and treatment strategies and bring precision medicine to COVID-19 patients. The team also aims to expand its work to regional and national analyses, tapping into a database of clinical data from COVID-19 patients that is being assembled by the Clinical and Translational Science Award program national network.

Bridget Kuehn is a freelance writer for Weill Cornell Medicine.

Link:
Grant will fund study into COVID outcome disparities in NYC - Cornell Chronicle

MedicalResearch.com Interview with:

Caspar van der Made, MDResident in Internal Medicine, PhD-studentAlexander Hoischen, PhDGeneticist, Assistant professor,Departments of Human Genetics and Internal Medicine

Radboud University Medical enterNijmegen, The Netherlands

First author Caspar van der Made is a resident in Internal Medicine and PhD-student on the topic of immunogenomics.Alexander Hoischen is geneticist with a special focus on the application of genomic technologies in primary immunodeficiencies and last author of this study.

MedicalResearch.com: What is the background for this study?

Response: This study was initiated to investigate the presence of monogenic factors that predispose young individuals to develop a severe form of COVID-19. It has become clear that several general risk factors such as obesity, hypertension and diabetes mellitus increase the risk of developing severe coronavirus disease. However, even though differences in interindividual genetic make-up are thought to influence the immune response to SARS-CoV-2, such specific genetic risk factors had not yet been identified.

We therefore chose to study young brother pairs (sharing half of their genomes) without any general risk factors that nevertheless contracted severe COVID-19.

We hypothesized these highly selected case series may offer the most optimal chance of identifying a (possible X-linked) primary immunodeficiency specific to COVID-19.

MedicalResearch.com: What are the main findings?

Response: In this case series, two young brother pairs of which all four individuals with a mean age of 26 years required mechanical ventilation at the ICU were enrolled and studied. We performed rapid clinical whole-exome sequencing of the patients and segregation in available family members to identify loss-of-function variants of the X-chromosomal TLR7. This gene encodes the toll-like receptor 7 protein that plays a critical role in the innate immune response against coronaviruses, predominantly by mediating the production of type I interferons. Especially in SARS-CoV-2 infections this response is crucial, as the virus has evasive mechanisms to disrupt a proper type I interferon response. In primary peripheral blood mononuclear cells extracted from the patients, we have shown that the transcription of type I-interferon genes was lower in patients upon stimulation with the TLR7 agonist imiquimod, as compared to controls. Furthermore, the production of the type II interferon IFNg was also decreased in patients.

MedicalResearch.com: What should readers take away from your report?

Response: To our knowledge this is the first report that proposes a specific monogenic factor to develop severe COVID-19. We aim to highlight the important contribution of genetics in the susceptibility to develop COVID-19 and hope to create awareness among physicians to consider genetic evaluation of young patients with unexplained severe COVID-19.

The finding of TLR7 deficiency in these patients furthermore underlines the importance of an intact type I and II interferon response to fight off SARS-CoV-2 and provides insight in the timing of possible treatment options.

MedicalResearch.com: What recommendations do you have for future research as a result of this work?

Response: While the TLR7 deficiency is most likely a rare phenomenon, with an estimate of 1:10,000 TLR7 mutation carriers in the general population; our findings shall be replicated and expanded by others. Similar to other rare disease genetic studies, this shall allow additional insides into disease pathogenesis in general. Further research should focus on the elucidation of the exact role of TLR7-signaling in the pathogenesis of SARS-CoV-2 and ultimately the exploration of rational treatment options.

Also, these findings may provide part of the explanation for the male sex bias observed in COVID-19, which should be addressed more in-depth. More generally, we encourage further studies towards the identification of other genetic risk factors and applaud the efforts already undertaken by other large consortia.

MedicalResearch.com: Is there anything else you would like to add?

Response: We are very grateful to the families that participated in this study, and would like to acknowledge our interdisciplinary team of collaborators.

Any disclosures?

No relevant conflict of interest for any of the authors.

Citation:

van der Made CI, Simons A, Schuurs-Hoeijmakers J, et al. Presence of Genetic Variants Among Young Men With Severe COVID-19.JAMA.Published online July 24, 2020. doi:10.1001/jama.2020.13719

https://jamanetwork.com/journals/jama/fullarticle/2768926

[wysija_form id=3]

The information on MedicalResearch.com is provided for educational purposes only, and is in no way intended to diagnose, cure, or treat any medical or other condition. Always seek the advice of your physician or other qualified health and ask your doctor any questions you may have regarding a medical condition. In addition to all other limitations and disclaimers in this agreement, service provider and its third party providers disclaim any liability or loss in connection with the content provided on this website.

3

Read more from the original source:
Genetic Change Detected in Brothers Helps Explain Why COVID-19 More Severe in Men - MedicalResearch.com

$26.5 million total near-term payments to BridgeBio, plus participation in long-term value creation of up to $505 million in milestone payments, tiered double-digit royalty payments and an equity interest in LianBio.

BridgeBio CEO and founder Neil Kumar, Ph.D., has been appointed to LianBios board of directors.

PALO ALTO, Calif., Aug. 11, 2020 (GLOBE NEWSWIRE) -- BridgeBio Pharma, Inc. (NASDAQ: BBIO), a clinical-stage biopharmaceutical company focused on genetic diseases and cancers with clear genetic drivers, today announced that it is partnering with Shanghai-based LianBio, a new company founded by Perceptive Advisors, to expand its global reach into China, the second-largest pharmaceutical market in the world. The partnership marks the first major expansion of BridgeBios pipeline into Asian markets.

This strategic relationship will initially focus on two of BridgeBios targeted oncology drug candidates, FGFR inhibitor infigratinib, currently in Phase 3 development for FGFR-driven tumors and Phase 1-ready SHP2 inhibitor BBP-398, for tumors driven by RAS and receptor tyrosine kinase mutations. The agreement also provides LianBio with preferential future access in the territory to more than 20 drug development candidates currently owned or controlled by BridgeBio. This collaboration is designed to advance and accelerate BridgeBios programs in China and other major Asian markets, allowing BridgeBio to quickly bring innovation to large numbers of patients with high unmet need.

Tremendous patient need and a fast-developing healthcare infrastructure make China a strategic priority. We are eager to not only expand late-stage therapies to the broader patient population there, but also to accelerate our clinical development efforts in Asia and better understand and address the needs of patients there early. We are grateful to be deepening our relationship with Perceptive Advisors through this agreement with LianBio and look forward to a lasting partnership focused on expanding our reach to patients, said BridgeBio CEO and founder Neil Kumar, Ph.D.

We value our relationship with BridgeBio and are happy to be enabling the entry of important programs to LianBios territories, said Adam Stone, CIO of Perceptive Advisors. BridgeBio and its affiliate companies exemplify the commitment to science-driven, precision medicine that we believe is a key driver to innovation in healthcare. We are excited about this opportunity to leverage their promising pipeline and LianBios local expertise to accelerate both global development and local access to leading edge therapeutics.

Under the terms of the agreements, LianBio will receive commercial rights in China and selected Asian markets and participate in clinical development activities for infigratinib (housed in BridgeBio affiliate QED) and BBP-398 (housed in BridgeBio affiliate Navire). BridgeBios near-term economics includes a total of $26.5 million in upfront and milestone payments. BridgeBio will receive up to $505 million in future milestone payments, tiered royalty payments from single- to double-digits on net sales of both products in licensed territories. Additionally, BridgeBio will increase its equity interest via investment in LianBio and BridgeBio CEO Neil Kumar has been appointed to the LianBio board of directors.

LianBio is participating in the ongoing Phase 3 study of infigratinib in first line cholangiocarcinoma (PROOF) in mainland China and further plans to initiate a Phase 2a study of infigratinib in gastric cancer and other FGFR-driven tumors. Additionally, LianBio will contribute to clinical development of BBP-398 in combination with various agents in solid tumors such as non-small cell lung cancer (NSCLC), colorectal and pancreatic cancer, in mainland China and other major Asian markets.

About BridgeBio PharmaBridgeBio is a team of experienced drug discoverers, developers and innovators working to create life-altering medicines that target well-characterized genetic diseases at their source. BridgeBio was founded in 2015 to identify and advance transformative medicines to treat patients who suffer from Mendelian diseases, which are diseases that arise from defects in a single gene, and cancers with clear genetic drivers. BridgeBios pipeline of over 20 development programs includes product candidates ranging from early discovery to late-stage development. For more information, please visitwww.bridgebio.com.

About LianBio

LianBios mission is to catalyze the development and accelerate availability of paradigm-shifting medicines to patients in China and major Asian markets through partnerships that provide access to the best science-driven therapeutic discoveries. LianBio collaborates with world-class partners across a diverse array of therapeutic and geographic areas to build out a pipeline based on disease relevance and the ability to impact patients with transformative mechanisms and precision-based therapeutics. For more information, please visit http://www.lianbio.com.

About Perceptive Advisors

Founded in 1999, Perceptive Advisors is a leading life sciences focused investment firm with over $7billion of regulatory assets under management as of June 30, 2020. Since inception, Perceptive Advisors has focused on supporting progress in the life sciences industry by identifying opportunities and directing financial resources toward the most promising technologies in modern healthcare. For more information, please visitwww.perceptivelife.com.

About QED Therapeutics

QED Therapeutics, an affiliate of BridgeBio Pharma, is a biotechnology company focused on precision medicine for FGFR-driven diseases. Its lead investigational candidate is infigratinib (BGJ398), an orally administered, FGFR1-3 selective tyrosine kinase inhibitor that has shown activity that it believes to be meaningful in clinical measures, such as overall response rate, in patients with chemotherapy-refractory cholangiocarcinoma with FGFR2 fusions and advanced urothelial carcinoma with FGFR3 genomic alterations. QED intends to submit a New Drug Application (NDA) with the United States Food and Drug Administration for second and later-line cholangiocarcinoma in 2020. QED Therapeutics is also evaluating infigratinib in clinical studies for the treatment of achondroplasia. QED plans to conduct further clinical trials to evaluate the potential for infigratinib to treat patients with other FGFR-driven tumor types and rare disorders. For more information, please visit http://www.qedtx.com.

About Navire Pharma

Navire Pharma, an affiliate of BridgeBio Pharma, and in collaboration with the Institute for Applied Cancer Science at MD Anderson, is developing inhibitors of SHP2 as targeted therapeutics for the treatment of multiple cancers. Together with patients and physicians, the company aims to bring safe, effective treatments to market as quickly as possible. For more information, please visit http://www.navirepharma.com.

BridgeBio Pharma Forward-Looking Statements

This press release contains forward-looking statements. Statements we make in this press release may include statements that are not historical facts and are considered forward-looking within the meaning of Section 27A of the Securities Act of 1933, as amended (the Securities Act), and Section 21E of the Securities Exchange Act of 1934, as amended (the Exchange Act), which are usually identified by the use of words such as anticipates, believes, estimates, expects, intends, may, plans, projects, seeks, should, will, and variations of such words or similar expressions. We intend these forward-looking statements to be covered by the safe harbor provisions for forward-looking statements contained in Section 27A of the Securities Act and Section 21E of the Exchange Act and are making this statement for purposes of complying with those safe harbor provisions. These forward-looking statements, including statements relating to BridgeBios anticipated receipt of future milestone and/or royalty payments from LianBio, reflect our current views about our plans, intentions, expectations, strategies and prospects, which are based on the information currently available to us and on assumptions we have made. Although we believe that our plans, intentions, expectations, strategies and prospects as reflected in or suggested by those forward-looking statements are reasonable, we can give no assurance that the plans, intentions, expectations or strategies will be attained or achieved. Furthermore, actual results may differ materially from those described in the forward-looking statements and will be affected by a number of risks, uncertainties and assumptions, including, but not limited to, the success of clinical trials, regulatory filings, approvals and/or sales of infigratinib and BBP-398 in China and other major Asian markets, as well as those risks set forth in the Risk Factors section of BridgeBio Pharmas most recent Annual Report on Form 10-K, Quarterly Report on Form 10-Q and BridgeBio Pharmas other SEC filings. Moreover, BridgeBio Pharma operates in a very competitive and rapidly changing environment in which new risks emerge from time to time. Except as required by applicable law, we assume no obligation to update publicly any forward-looking statements, whether as a result of new information, future events or otherwise.

Contact:Grace RauhBridgeBio Pharma, Inc.Grace.rauh@bridgebio.com(917) 232-5478

Source: BridgeBio Pharma, Inc.

Visit link:
BridgeBio Pharma Expands Reach Into China and Other Major Asian Markets Through Strategic Collaboration With Perceptive Advisors-Founded Company,...

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

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

*These authors contributed equally to this work

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

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

Keywords: pharmacogenetics, childhood ALL, implementation

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Read the rest here:
Noel Rose, Who Demonstrated Autoimmunity Exists, Dies at 92 - The Scientist

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

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

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

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

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

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

SOURCE CCRM Fertility

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

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

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

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

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

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

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

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

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

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

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

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

References

About OpGen, Inc.

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

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

Forward-Looking Statements by OpGen

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

OpGen Contact:Oliver SchachtCEOInvestorRelations@opgen.com

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

Investor Contact:Megan PaulEdison Groupmpaul@edisongroup.com

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