Biogen Inc. is an American multinational biotechnology company based in Cambridge, Massachusetts, United States specializing in the discovery, development, and delivery of therapies for the treatment of neurological diseases to patients worldwide. Biogen operates in Argentina, Brazil, Canada, China, France, Germany, Hungary, India, Italy, Japan, Mexico, Netherlands, Poland, Sweden, and Switzerland.
Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency, is a group of rare genetic diseases of varying severity. These are inherited metabolic disorders in which sphingomyelin accumulates in lysosomes in cells of many organs. NP types A, A/B, and B are caused by mutations in the SMPD1 gene, which causes a deficiency of an acid sphingomyelinase (ASM). NP type C is now considered a separate disease, as SMPD1 is not involved, and there is no deficiency in ASM.
The Medical University of South Carolina (MUSC) is a public medical school in Charleston, South Carolina. It opened in 1824 as a small private college aimed at training physicians and has since established hospitals and medical facilities across the state. It is one of the oldest continually operating schools of medicine in the United States and the oldest in the Deep South.
Pharming, a portmanteau of farming and pharmaceutical, refers to the use of genetic engineering to insert genes that code for useful pharmaceuticals into host animals or plants that would otherwise not express those genes, thus creating a genetically modified organism (GMO). Pharming is also known as molecular farming, molecular pharming, or biopharming.
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder. Currently, research is being conducted at Universities, such as the University of Minnesota, to elucidate many of the unknown characteristics of the disease.
Arimoclomol, sold under the brand name Miplyffa, is a medication for the treatment of Niemann–Pick disease type C. It is taken by mouth.
The GM2 gangliosidoses are a group of three related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are better known by their individual names: Tay–Sachs disease, AB variant, and Sandhoff disease.
Miglustat, sold under the brand name Zavesca among others, is a medication used to treat type I Gaucher disease and Pompe disease.
Acetylleucine (N-acetyl-leucine) is a modified leucine amino acid used in the treatment of vertigo and cerebellar ataxia.
Niemann-Pick C1-Like 1 (NPC1L1) is a protein found on the gastrointestinal tract's epithelial cells as well as in hepatocytes. Specifically, it appears to bind to a critical mediator of cholesterol absorption.
The "war on cancer" is the effort to find a cure for cancer by increased research to improve the understanding of cancer biology and the development of more effective cancer treatments, such as targeted drug therapies. The aim of such efforts is to eradicate cancer as a major cause of death. The signing of the National Cancer Act of 1971 by United States president Richard Nixon is generally viewed as the beginning of this effort, though it was not described as a "war" in the legislation itself.
Niemann–Pick type C (NPC) is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann–Pick type C affects an estimated 1:150,000 people. Approximately 50% of cases present before ten years of age, but manifestations may first be recognized as late as the sixth decade. Despite its name, Niemann-Pick disease, type C has very little to do with SMPD1-associated Niemann–Pick disease, although they were once thought to be the same disease.
Apatinib, also known as rivoceranib, is a tyrosine kinase inhibitor that selectively inhibits the vascular endothelial growth factor receptor-2. It is an orally bioavailable, small molecule agent which is thought to inhibit angiogenesis in cancer cells; specifically, apatinib inhibits VEGF-mediated endothelial cell migration and proliferation thus blocking new blood vessel formation in tumor tissue. This agent also mildly inhibits c-Kit and c-SRC tyrosine kinases.
Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of the enzyme replacement therapy (ERT) and the chaperone therapy for Fabry disease, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.
Flexion Therapeutics, Inc. is an American biopharmaceutical company based in Burlington, Massachusetts that is focused on the discovery, development and commercialization of novel, local therapies for the treatment of patients with musculoskeletal conditions, beginning with osteoarthritis (OA), the most common form of arthritis.
Radotinib (INN; trade name Supect), and sometimes referred to by its investigational name IY5511, is a drug for the treatment of different types of cancer, most notably Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML) with resistance or intolerance of other Bcr-Abl tyrosine-kinase inhibitors, such as patients resistant or intolerant to imatinib.
Karin M. Hehenberger is a Swedish physician, investor, business executive, and diabetes expert, known for her work in the field of biotechnology. She has written numerous articles on biotechnology that have been published in peer review journals and worked as an executive for different biotechnology companies and investment firms. She is a faculty member in the department of Molecular Medicine at the Karolinska Institute where she also obtained her M.D. and a Ph.D. in molecular medicine. She has lectured on the topics of autoimmune diseases, diabetes, molecular medicine and industry challenges as well as provided commentary for Fox News, Good Morning America Health, New York One, the USA Today and Forbes.
Ansuvimab, sold under the brand name Ebanga, is a monoclonal antibody medication for the treatment of Zaire ebolavirus (Ebolavirus) infection.
Frances Mary Platt is a biologist whose research has focused on biochemistry and pharmacology Her research investigates rare genetic disorders known as lysosomal storage diseases, which are progressive conditions that typically lead to neurodegeneration. She is a Professor at the University of Oxford and currently Head of the Department of Pharmacology. She was elected Fellow of the Academy of Medical Sciences in 2011, and Fellow of the Royal Society in 2021.
Levacetylleucine, sold under the brand name Aqneursa, is a medication used for the treatment of neurological manifestations of Niemann-Pick disease type C. Levacetylleucine is a modified version of the amino acid leucine (N-Acetyl-L-Leucine). It is taken by mouth.
