Virus That Evolved in the Lab Delivers Gene Therapy into the Retina. A new delivery mechanism shuttles gene therapy deep into the eye’s retina to repair damaged light-sensing cells without requiring a surgeon to put a needle through this delicate tissue. The approach could make it substantially easier to treat inherited forms of eye disease with this approach. Although still largely experimental, gene therapy is gradually moving to the hospital. The technology is involved in some 2,000 completed and ongoing clinical trials, and last December the European Union approved a gene therapy treatment for a metabolic disorder (see “Gene Therapy on the Mend as Treatment Gets Western Approval”). But until recently, most gene therapy has involved using naturally occurring viruses to deliver a genetic payload, says David Schaffer, a biomedical engineer at the University of California, Berkeley, and a 2002 MIT Technology Review Innovator Under 35, who was involved in the work.
The next big hurdle, Kay adds, will be to test these DNA-delivering viruses in patients. E-WorkBook Suite | Secure storage, comprehensive analysis and flexible reporting in one framework. Move quickly. As well as helping secure the intellectual property of your research and development (R&D), the E‑WorkBook Suite increases efficiency and enables you to get innovative products to market faster. Much, much more than the sum of its parts, the E‑WorkBook Suite transcends the typical electronic laboratory notebook (ELN) paradigm. As well as delivering a robust suite of applications for data and sample management, it also offers industry leading analysis, reporting and IP retention. Flexible, scalable, fast to value The E‑WorkBook Suite is also highly flexible.
Suitable for small or the largest of organizations, and with a proven track record of robust performance, it can be quickly deployed and is easy to use. And it scales quickly to the needs of your business. Biomarin. Pipeline. PEG-PAL for PKU. PEGylation. PEGylation (also often styled pegylation) is the process of covalent attachment of polyethylene glycol (PEG) polymer chains to another molecule, normally a drug or therapeutic protein, which is then described as PEGylated (pegylated). PEGylation is routinely achieved by incubation of a reactive derivative of PEG with the target molecule.
The covalent attachment of PEG to a drug or therapeutic protein can "mask" the agent from the host's immune system (reduced immunogenicity and antigenicity), and increase the hydrodynamic size (size in solution) of the agent which prolongs its circulatory time by reducing renal clearance. PEGylation can also provide water solubility to hydrophobic drugs and proteins. History[edit] Around 1970, Frank F. Davis, a professor of biochemistry at Rutgers University, became interested in developing a process to render usable bioactive proteins of potential medical value.
Overview[edit] PEGylated drugs also have the following commercial advantages: See also[edit] BMN-673: PARP Inhibitor. PARP1. Poly [ADP-ribose] polymerase 1 (PARP-1) also known as NAD + ADP-ribosyltransferase 1 or poly[ADP-ribose] synthase 1 is an enzyme that in humans is encoded by the PARP1 gene . [ 1 ] Function [ edit ] PARP1 works: By modifying nuclear proteins by poly ADP-ribosylation . In conjunction with BRCA, which acts on double strands; members of the PARP family act on single strands; or, when BRCA fails, PARP takes over those jobs as well.
PARP1 is involved in: Differentiation, proliferation, and tumor transformation Normal or abnormal recovery from DNA damage May be the site of mutation in Fanconi anemia [ citation needed ] May participate in the pathophysiology of type I diabetes . [ 2 ] PARP1 is activated by: Helicobacter pylori in the development and proliferation of gastric cancer . [ 3 ] Role in DNA damage repair [ edit ] PARP1 has a role in repair of single-stranded DNA (ssDNA) breaks. Interaction with BRCA1 and BRCA2 [ edit ] Application to cancer therapy [ edit ] Aging [ edit ] Interactions [ edit ] PARP inhibitor. PARP inhibitors are a group of pharmacological inhibitors of the enzyme poly ADP ribose polymerase (PARP). They are developed for multiple indications; the most important is the treatment of cancer. [ 1 ] Several forms of cancer are more dependent on PARP than regular cells, making PARP an attractive target for cancer therapy. [ 2 ] [ 3 ] [ 4 ] In addition to their use in cancer therapy, PARP inhibitors are considered a potential treatment for acute life-threatening diseases, such as stroke and myocardial infarction , as well as for long-term neurodegenerative diseases . [ 5 ] Mechanism of action [ edit ] DNA is damaged thousands of times during each cell cycle, and that damage must be repaired.
BRCA1 , BRCA2 and PALB2 [ 6 ] are proteins that are important for the repair of double-strand DNA breaks by the error-free homologous recombinational repair, or HRR, pathway. PARP1 is a protein that is important for repairing single-strand breaks ('nicks' in the DNA). Started Phase III: BRCA1. Location of the BRCA1 gene on chromosome 17.
BRCA1 ( pron.: / ˈ b r æ k ə / ; [ 1 ] breast cancer 1, early onset) is a human caretaker gene that produces a protein called breast cancer type 1 susceptibility protein , responsible for repairing DNA. [ 2 ] The first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990. [ 3 ] Four years later, after an international race to find it, [ 4 ] the gene was cloned in 1994 by scientists at University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics . [ 5 ] [ 6 ] BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA , or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers (see BRCA mutation ). [ 7 ] [ 8 ] Gene location [ edit ] Protein structure [ edit ] The BRCA1 protein contains the following domains: [ 16 ] Serine cluster domain [ edit ]
Clinical Trials. GALNS. Morquio A syndrome is an inherited, autosomal recessive disease caused by a deficiency of a particular lysosomal enzyme, N-acetylgalactosamine-6 sulfatase (GALNS). Deficiency of the enzyme results in excessive lysosomal storage of keratan sulfate in many tissues and organs. This accumulation causes systemic skeletal dysplasia, short stature, and joint abnormalities, which limit mobility and endurance. Malformation of the thorax impairs respiratory function, and malformation of neck vertebrae and ligament weakness causes cervical spinal instability and, potentially, cord compression.
Other symptoms may include hearing loss, corneal clouding, and heart valve disease. BioMarin? For more information on Morquio syndrome and BioMarin? Mucopolysaccharidosis. People with a mucopolysaccharidosis disease either do not produce enough of one of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when a specific organelle in our bodies' cells – the lysosome – malfunctions.
The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Features[edit] The mucopolysaccharidoses share many clinical features but have varying degrees of severity. Types[edit] Overview table[edit] MPS I[edit] MPS II[edit]