Vacuole

Evidence Mounts for Alternate Origins of Alzheimer's Disease Plaques

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Thursday, June 2, 2022
NYU Langone Health, National Institutes of Health, Cell, Research, Dementia, Doctor of Philosophy, Patent, Nathan Kline Institute for Psychiatric Research, Lysosome, Neuron, Disease, New York University Grossman School of Medicine, Ageing, Psychiatry, Center, University, Brain, Method, Science Advances, Cell biology, Nerve, National Institute on Aging, Nature Neuroscience, Mouse, NYU, Recycling, Department, Phill Kline, Alzheimer's disease, PSEN1, Brain damage, Vacuole, Thermo Fisher Scientific, National Institute, Medical imaging, Pharmaceutical industry, MD

NEW YORK, June 2, 2022 /PRNewswire/ -- A breakdown in how brain cells rid themselves of waste precedes the buildup of debris-filled plaques known to occur in Alzheimer's disease, a new study in mice shows.

Key Points: 
  • The field argued for decades that such plaques, containing the protein amyloid beta, built up outside of cells as a crucial first step toward the brain damage observed in Alzheimer's disease.
  • The latest study findings argue instead that neuronal damage characteristic of Alzheimer's disease takes root inside cells and well before these thread-like amyloid plaques fully form and clump together in the brain.
  • These are small sacs inside every cell, filled with acidic enzymes involved in the routine breakdown, removal, and recycling of metabolic waste from everyday cell reactions, as well as from disease.
  • As part of the study, researchers tracked decreasing acid activity inside intact mouse cell lysosomes as the cells became injured in the disease.

The Relapsing Polychondritis Foundation Invests in the Next Phase of VEXAS Research

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Thursday, March 31, 2022
Disease, Giant cell arteritis, Race, Trachea, Febrile neutrophilic dermatosis, NYU Langone Health, Hematology, Letter, VEXAS syndrome, Classification, Catholic University of Leuven (1834–1968), Internal medicine, Degenerative disease, Genomics, Lists of diseases, Diagnosis, Fever of unknown origin, NEW, Polyarteritis nodosa, Mortality, Cartilage, Inflammation, Nose, Research, Aorta, Episcleritis, RP, Hypoesthesia, Joint, Autoimmune disease, Vacuole, Anemia, UBA1, NIH, Society, Sex linkage, Physician, Science, Genetics, Awareness, Fatigue, Rash, Division, Patient, American Society of Hematology, Pharmaceutical industry, Medical device, Medicine, Animal, VEXAS, Lupus, Rheumatology

NEW YORK, March 31, 2022 /PRNewswire-PRWeb/ --VEXAS is an acronym for: Vacuoles, E1 ubiquitin Activating Enzyme, X-linked, Autoinflammatory, Somatic, with each letter representing one of the hallmark features of this novel autoinflammatory syndrome¹,². The discovery of VEXAS syndrome is revolutionary because it demonstrated that autoimmune disorders previously thought to be unrelated to each other, like relapsing polychondritis (RP), polyarteritis nodosa, Sweet syndrome, and giant cell arteritis, share a common acquired, somatic mutation in the UBA1 gene². UBA1 gene mutations result in the decreased production of an enzyme that breaks-down misfolded proteins and are clinically associated with systemic inflammation, anemia, and bone marrow dysplasia.

Key Points: 
  • To learn more about VEXAS and the research that the RP Foundation's support is expanding upon, check out the following articles:
    1.
  • The Relapsing Polychondritis (RP) Foundation is a 501(c)3, non-profit organization whose mission is to increase awareness and educate the broader community and medical professionals regarding relapsing polychondritis and RP-related autoimmune diseases, and support research initiatives that advance the path to a cure.
  • The Race for RP drives awareness and accelerates research support for the Relapsing Polychondritis Foundation.
  • We're working with the Relapsing Polychondritis Foundation to facilitate research and studies to help diagnose, prevent, and cure RP and its related diseases.

Genomic Testing Cooperative and Their Cooperative Member Laboratories Expand Hematology Panels to Cover VEXAS Disease and a New Prognostic Biomarker in Myeloproliferative Neoplasms

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Wednesday, March 2, 2022
Oncology, Health, Genetics, Other Health, Research, Science, Biotechnology, Diagnosis, Pancreatic serous cystadenoma, Acute myeloid leukemia, Aplastic anemia, Lymphatic system, Chondritis, Patient, Multiple myeloma, Prevalence, VEXAS, Cooperative, DOI, Laboratory, DNA, LCA, Gene, Liquid biopsy, Myelodysplastic syndrome, NFE2, Fever of unknown origin, MPN, CA, Sarcoma, Disease, AML, UBA1, Bone marrow, GTC, Vacuole, Vasculitis, Fever, Technology, MD, The, Incidence, Hematology, Chronic myelomonocytic leukemia, Somatic, Sex linkage, Vaccine, Animal, Blood

Genomic Testing Cooperative, LCA (GTC) announced today that their hematology molecular profiling is expanded to cover analysis of the UBA1 and NFE2 genes.

Key Points: 
  • Genomic Testing Cooperative, LCA (GTC) announced today that their hematology molecular profiling is expanded to cover analysis of the UBA1 and NFE2 genes.
  • Detecting the presence of mutations in the UAB1 gene is the only way for confirming the diagnosis of this disease.
  • Testing for these two genes will be included when all hematology profiling tests are ordered from GTC laboratories as well as from the Co-Op member laboratories.
  • These genes are now included in the three hematology tests: Hematology Profile (DNA only), Hematology Profile Plus (DNA+RNA) and Liquid Biopsy Hematology Profile.

Renowned Clinician-Scientist Joins Division of Rheumatology at NYU Langone Health

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Monday, October 18, 2021
View, Division, Center, American Society of Hematology, Genetics, Medical genetics, American Society of Human Genetics, Chondritis, Department of Medicine – University of Pamplona, Internal medicine, Anurag Agrawal (medical scientist), NIH, Biochemistry, Research, Autoimmunity, Patient, Inflammation, VEXAS, Myelocyte, Vacuole, Doctor of Philosophy, American College of Rheumatology, National, UBA1, Society, Quality of life, Database, MD, Man, Sex linkage, NYU Langone Health, Diagnosis, American College, Lists of diseases, Columbia University, New York University Grossman School of Medicine, Physician, Department, Thrombus, Woman, Disorder, Mutation, Multimedia, Degenerative disease, NYU, Brown University, Faculty, Gene, Genomics, X chromosome, Catholic University of Leuven (1834–1968), Pharmaceutical industry, Medical device

NEW YORK, Oct. 18, 2021 /PRNewswire/ -- Nationally recognized for his work studying a novel inflammatory disorder known as VEXAS, David B. Beck, MD, PhD , has joined the Division of Rheumatology at NYU Langone.

Key Points: 
  • NEW YORK, Oct. 18, 2021 /PRNewswire/ -- Nationally recognized for his work studying a novel inflammatory disorder known as VEXAS, David B. Beck, MD, PhD , has joined the Division of Rheumatology at NYU Langone.
  • Dr. Beck previously worked as a postdoctoral fellow and clinical scholar at the National Institutes of Health (NIH).
  • At NYU Langone, he has dual appointments as an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology , and is a member of the Center for Human Genetics and Genomics and the Division of Rheumatology.
  • An alumnus of Brown University, Dr. Beck earned his medical degree and PhD in biochemistry from NYU School of Medicine.

Rocket Pharmaceuticals Presents Clinical Data from RP-A501 Trial in Danon Disease at the Heart Failure Society of America (HFSA) Annual Scientific Meeting 2021

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Tuesday, September 14, 2021
Science, Cardiology, Biotechnology, Research, Pharmaceutical, Health, Genetics, Clinical Trials, Autophagosome, Medication, IMO, Tissue, Genetic disorder, Cardiac muscle, Patient, Immunohistochemistry, Vacuole, Marketing, LVV, Private Securities Litigation Reform Act, Autophagy, Lists of diseases, Glycogen, Danon disease, Fanconi anemia, Safety, BNP, NASDAQ, Osteopetrosis, COVID-19, Heart Failure Society of America, Bone marrow failure, Heart failure, Lifting, Male, FA, PKD, Risk, AAV, SEC, Pyruvate kinase deficiency, Prevalence, Pharmaceutical industry, Vaccine, RP-A501, Danon Disease, Rocket Pharmaceuticals, Inc., RP-A501, DANON DISEASE, ROCKET PHARMACEUTICALS, INC.

Steroid-induced myopathy was observed in two of the three patients >2 weeks after dosing, which also resolved.

Key Points: 
  • Steroid-induced myopathy was observed in two of the three patients >2 weeks after dosing, which also resolved.
  • In these two patients, a substantial improvement of a key marker of heart failure, B-type natriuretic peptide (BNP), was also observed.
  • RP-A501 is an investigational gene therapy product being developed for Danon Disease and the first potential gene therapy for monogenic heart failure.
  • Rockets first clinical program using adeno-associated virus (AAV)-based gene therapy is for Danon disease, a devastating, pediatric heart failure condition.