Gene therapies disease models animal. Medical search. Frequent questions

These therapies all used the adeno-associated virus (AAV) vector as the gene delivery agent. (medscape.com)
With the advent of adeno-associated virus vectors as valuable gene delivery tools for retinal photoreceptors, a number of promising gene supplementation therapy programs have been initiated. (nih.gov)
A primary aim of BGTC is to improve understanding of the basic biology of a common gene delivery vector known as the adeno-associated virus (AAV). (nih.gov)
To overcome the effects of RPGR mutations, the researchers packaged healthy RPGR genes into an adeno-associated virus that is not known to cause any human diseases. (nih.gov)
In this case, the site refers to a specific location on an Adeno-associated virus (AAV) (viral vector) used for gene therapy. (iitk.ac.in)
Vasileva A and Jessberger R. Precise hit: adeno-associated virus in gene targeting. (reportergene.com)
5q-linked SMA) have demonstrated that Adeno Associated Virus (AAV) vectors can efficiently enter a broad range of tissues within the central nervous system and the periphery, thereby effectively restoring expression of the disease gene. (neurodegenerationresearch.eu)

Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated channel. (nih.gov)
About 70 percent of people with the X-linked form carry mutations that cause loss of function of the retinitis pigmentosa GTPase Regulator (RPGR) gene, which encodes a protein important for maintaining the health of photoreceptors. (nih.gov)
Mutations in ~13 different genes (called CLNs ) underlie various types of NCLs. (nih.gov)
For the past several years, our research has been primarily focused on infantile NCL (or INCL), one of the most devastating childhood neurodegenerative LSDs caused by mutations in the CLN1 gene, which encodes palmitoyl-protein thioesterase-1 (PPT1), a lysosomal depalmitoylating enzyme. (nih.gov)
A blood test is available to look for mutations or deletions of the SMN1 gene. (nih.gov)
The disease is caused by mutations in the muscle protein dystrophin. (nih.gov)
Most of the mutations are partial gene deletions that shift the translational reading frame of the mRNA, leading to a truncated and unstable protein. (nih.gov)
Myostatin inhibition and drugs that promote read-through of mutations have shown benefit in animals but not yet in clinical trials. (nih.gov)
As a graduate student he was the first to identify mutations in SELENON gene (formerly SEPN1), which led to the characterization of a clinical entity now known as Selenon-related myopathy. (childrenshospital.org)
In phagocytes from CGD patients, ROS production is altered by mutations in various upstream genes including CYBB (Heyworth et al. (jax.org)
In addition, HR donors can include up to 6-8 kb of open reading frame for gene knock-ins or tagging, and, when small mutations are included in either 5' or 3' homology arms, can make specific, targeted gene edits. (reportergene.com)
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. (ucl.ac.uk)
There is a significant genetic contribution to the pathogenesis of most forms of glaucoma and while several loci associated with glaucoma have been mapped [ 3 ], known mutations only account for a small fraction of disease. (molvis.org)
An analysis of the fucosidase gene revealed 22 different gene alterations, including 4 missense mutations and 18 nonsense mutations, that consisted of 7 stop-codon mutations and 11 other complex changes.3 Stop-codon mutations lead to premature translation termination and to the synthesis of a non-functional enzyme. (pdf-archive.com)
The identification of these genes and their disease-causing mutations can aid in the diagnosis of patients who are genetically affected but have not yet developed the clinical phenotype. (soton.ac.uk)
Much work remains to elucidate the biologic mechanisms by which these genetic mutations result in disease phenotypes. (soton.ac.uk)
Program Director/Principal Investigator (Last, First, Middle): Lu Qi Long Project Summary Mutations in FKRP gene cause muscular dystrophy with wide variation in severity with characteristic biochemical feature of defect in glycosylation of ¿-DG. (hhs.gov)
We will then examine long-term efficacy (12 months) and safety of the selected dosing and delivery regime of ribitol in three strains of FKRP mutant mice, P448L, L276I homozygote, and P448L/L276I compound heterozygotes bearing clinically relevant mutations in more than 90% patients and representing diseases from mild to severe dystrophic phenotypes. (hhs.gov)

a public-private partnership aimed at advancing the understanding of neurodegenerative diseases and fostering the development of treatments for amyotrophic lateral sclerosis (ALS) and other rare neurodegenerative diseases. (nih.gov)
This disease is a particularly attractive gene therapy target because surgical infusion is currently required for viral vector delivery into the brain, and PD is the only neurodegenerative disorder routinely treated with neurosurgery. (medscape.com)
Our research interests are primarily focused on a group of the most common (1 in 12,500 births) neurodegenerative lysosomal storage disorders (LSDs) called N euronal C eroid L ipofuscinoses (NCLs), also known as Batten disease. (nih.gov)
Similar difficulties have been encountered with gene therapy in animal models of neurodegenerative LSDs. (nih.gov)
This is an important discovery because dysregulation of lysosomal acidification is a fundamental defect that contributes to pathogenesis in virtually all LSDs and in common neurodegenerative diseases like Alzheimer's and Parkinson's. (nih.gov)
Neurodegenerative diseases including Alzheimer's disease and Parkinson's disease are aging-associated diseases with irreversible damage of brain tissue. (hindawi.com)
Oxidative stress is commonly detected in neurodegenerative diseases and related to neuronal injury and pathological progress. (hindawi.com)
Recent research has found that exosomal miRNAs regulate the activity of multiple physiological pathways, including the oxidative stress response, in neurodegenerative diseases. (hindawi.com)
Firstly, we explore the relationship between oxidative stress and neurodegenerative diseases. (hindawi.com)
Thirdly, we summarized the crosstalk between exosomal miRNAs and oxidative stress in neurodegenerative diseases. (hindawi.com)
Fourthly, we discuss the potential of exosomes to be a biomarker in neurodegenerative diseases. (hindawi.com)
Our work is aimed at probing and reinforcing the recognition of the pathomechanism of neurodegenerative diseases and providing the basis for novel strategies of clinical diagnosis and treatment. (hindawi.com)
The incidence of neurodegenerative diseases, which include Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and amyotrophic lateral sclerosis (ALS), has been shooting up due to the extended lifespan and environment pollution. (hindawi.com)
Neurodegenerative diseases are a group of refractory diseases and have loaded a huge medical, social, and economic burden to the world. (hindawi.com)
Despite the massive efforts into the pathological mechanisms and therapeutic strategies of neurodegenerative diseases, few sufficiently effective treatments have been generated thus far [ 1 ]. (hindawi.com)
Accumulating evidence has shown that the pathology of neurodegenerative diseases has a strong contact with the production of oxidative stress, which in turn, contributes to the further progress of neurodegenerative diseases [ 2 - 4 ]. (hindawi.com)
In this context, exosomes can take part in many biological processes and set up intracellular communication among cells, which makes them important in diverse diseases, e.g., immunological diseases, tumorigenesis, and neurodegenerative diseases [ 10 ]. (hindawi.com)
Exosomes involved in neurodegenerative diseases are generated from manifold sources, such as human mesenchymal stem cells (MSCs), immunity cells, and microglia [ 9 , 11 - 14 ], and exosomes derived from different sources with different cargos seem to have a different impact on neurodegenerative diseases [ 15 ]. (hindawi.com)
More importantly, exogenous exosomes can cross the blood-brain barrier (BBB) and target the brain tissue [ 17 ], while endogenous exosomes can be secreted by brain cells and reflect brain injury [ 9 ], indicating their promise as drug carriers and biomarkers for neurodegenerative diseases, respectively. (hindawi.com)
Accordingly, this review attempts to briefly summarize the potential advantage of exosomal miRNA-based management in the treatment and diagnosis of neurodegenerative diseases. (hindawi.com)
The EU Joint Programme - Neurodegenerative Disease Research (JPND) is the largest global research initiative aimed at tackling the challenge of neurodegenerative diseases, in particular, Alzheimer's. (neurodegenerationresearch.eu)
Recent studies propose SIRT2 pharmacological inhibition as a therapeutic strategy for several neurodegenerative diseases including Alzheimer's disease (AD). (unav.edu)
These results suggest that, although SIRT2 pharmacological inhibition may have beneficial consequences in neurodegenerative diseases, its pharmacological inhibition at the periphery would not be recommended and the systemic adverse side effects should be considered. (unav.edu)
This information is essential to maximize the therapeutic potential of SIRT2 inhibition not only for AD but also for other neurodegenerative diseases. (unav.edu)
Both are considered autoimmune, neurodegenerative diseases characterized by chronic demyelination of neurons and eventual loss of axons. (plos.org)
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease and survival in ALS is typically 3-5 years. (umassmed.edu)

Neuroinflammation is a key contributor to the pathology of Alzheimer's disease (AD). (nih.gov)
Nominated targets are obtained from several sources, including the National Institute on Aging's Accelerating Medicines Partnership in Alzheimer's Disease (AMP-AD) consortium. (nih.gov)
Researchers have shown that defective myelin actively promotes disease-related changes in Alzheimer's disease. (mpg.de)

The virus spreads throughout the eye to deliver therapeutic genes to cells in the retina. (nih.gov)
Another desirable characteristic is that the nanoparticles can carry therapeutic genes that are too large to be carried by viral vectors. (nih.gov)
While viral vector gene therapies predominate, both viral and non-viral vectors have been developed as a means to deliver therapeutic genes. (wikipedia.org)
BGTC researchers will examine the biological and mechanistic steps involved in AAV vector production, vector delivery of genes into human cells and how therapeutic genes are activated in target cells. (nih.gov)
In order to deliver the therapeutic genes to the target, so-called viral vectors are used as gene taxis. (bionity.com)

Researchers found that CD117-ADC allowed robust engraftment of gene-modified cells to increase fetal hemoglobin, a type of oxygen-carrying blood protein present at birth. (nih.gov)
However, expression of the therapeutic protein eventually fades, requiring repeated injections of the gene-carrying virus to maintain adequate levels of the therapeutic protein. (nih.gov)
The team performed a number of experiments in rats and mice showing that the nanoparticles very efficiently carried genes into the cells of the eye and made large quantities of protein. (nih.gov)
Protein expressed in the photoreceptors and retina of a rat one month after gene therapy using a nanoparticle carrying a reporter gene (yellow). (nih.gov)
Gene Augmentation approaches aim to replicate the success of anabolic protein therapies by delivering the genetic instructions for these factors in the form of single injection treatments. (wikipedia.org)
The aim is for the virus to deliver the genes into retinal cells and for the genes to produce the RPGR protein. (nih.gov)
The genetic defect leads to missing or abnormal dystrophin, an important structural protein unknown until the gene was discovered. (nih.gov)
The most common form of SMA is caused by a mutated or missing gene known as the survival motor neuron gene 1 (SMN1), which is typically responsible for the production of a protein essential to motor neurons. (nih.gov)
Gene therapy is one of the most potent applications of recombinant DNA technology wherein pieces of DNA from multiple sources are combined to efficiently deliver the healthy copy of the faulty gene in a manner that production of protein from the introduced gene is sustained for life. (iitk.ac.in)
These operations are made possible by recent advances in DNA synthesis and DNA sequencing, providing standardized DNA "parts," modular protein assemblies, and engineering models. (cdc.gov)
The study, conducted by the I.R.C.C.S. Neuromed, the I.R.C.C.S. Multimedica and the Department of Medicine, Surgery, and Dentistry, Salerno Medical School University of Salerno, with the support of the Cariplo Foundation and the Italian Ministry of Health, focuses on the gene that encodes the BPIFB4 protein . (lifeboat.com)
Patrick Cramer is carrying out research on the enzyme that transcribes the DNA code to enable a protein to be synthesized from a gene. (mpg.de)
After his graduate studies, he pursued his postdoctoral research at the University of Copenhagen in Ulla Wever's laboratory, where he showed that overexpression of ADAM12 protein could alleviate the phenotype of the mouse model of Duchenne muscular dystrophy. (childrenshospital.org)
The gene responsible for SMARD1 is immunoglobulin µ-binding protein 2 (IGHMBP2). (neurodegenerationresearch.eu)
IGHMBP2 encodes a 993 amino acid protein that exhibits DNA/RNA helicase and ATPase activity, however, its normal and disease related functions are not well understood. (neurodegenerationresearch.eu)
It is caused by the presence of an extra copy of a gene that carries the information for making a protein called "peripheral myelin protein 22" (PMP22). (mydr.com.au)
In a transgenic ALS mouse model expressing mutant SOD1G93A protein, silencing the SOD1 gene prolongs survival. (umassmed.edu)
ne of the biggest surprises in biology in the past decades was the discovery that humans have about the same number of protein coding genes as a worm. (the-scientist.com)
Furthermore, the disease gene could be replaced with a normal copy, allowing expression of the normal protein and potentially avoiding the disease phenotype altogether. (soton.ac.uk)
Decreasing protein by half typically results in disease in humans yet a similar change in mice allows for protection against the disease. (worldhealth.net)

Gene therapies have entered clinical trials for several neurological disorders, most notably Parkinson disease. (medscape.com)
The first clinical trials are ongoing or will be launched soon and are expected to contribute important data on the safety and efficacy of ACHM gene supplementation therapy. (nih.gov)
A clinical component of BGTC-funded research will support between four and six clinical trials, each focused on a different rare disease. (nih.gov)
The findings contribute to the groundwork needed to move gene therapy forward into clinical trials for people with the blinding eye disorder, for which there is currently no cure. (nih.gov)
New approaches to animal modeling, such as co-clinical trials, can improve the usefulness of animal models and their translation to human health. (nih.gov)
This cross-species application possibility is very important for the development of new therapeutic strategies, because it enables the necessary preclinical trials in the mouse model and their transfer to the later clinical trials in humans," explains the molecular biotechnologist. (bionity.com)
Oligonucleotide and gene replacement therapy have recently shown great promise in animal studies, and clinical trials are planned. (nih.gov)
The National Heart, Lung, and Blood Institute (NHLBI) conducts and supports research that expands our understanding of lung biology and how lung diseases start and progress, as well as studies and clinical trials that lead to new and improved ways to diagnose, treat, and prevent lung diseases. (nih.gov)

Topics included: determing which retinal diseases are likely candidates for gene therapy, specific retinal degenerations and nonspecific neuronal survival mechanisms, design and use of viral and retroviral vectors in achieving regulated gene expression, animal models of retinal degeneration and associated therapies, human trials, and alternatives to gene therapy. (nih.gov)
The knowledge MDA-funded researchers are obtaining about the mechanisms by which metabolic gene defects cause disease may lead to other strategies for prevention and treatment. (mda.org)
The challenge now is to convert what we know about the causes and mechanisms of hereditary diseases into safe and effective treatment. (nih.gov)
Understanding how environmental cues affect cell physiology to give rise to specific phenotypic outcomes is a fundamental step toward understanding disease mechanisms. (nih.gov)
BMC Endocrine Disorders is calling for submissions to our Collection on Cellular and Molecular Therapies and Mechanisms of Endocrine Disorders. (biomedcentral.com)
During the submission process you will be asked whether you are submitting to a Collection, please select "Cellular and Molecular Therapies and Mechanisms of Endocrine Disorders" from the dropdown menu. (biomedcentral.com)
Applying a genetic model of impaired glutamate release, this study aims to further identify the molecular mechanisms that could modulate antide-pressant action and resistance to treatment.To that end, mice knocked-down for the vesicular glutamate transporter 1 (VGLUT1+/-) were used. (unav.edu)
A growing body of evidence suggests additional mechanisms contribute to disease progression. (plos.org)
Experimental autoimmune encephalomyelitis (EAE) is the primary animal model of the human disease, multiple sclerosis (MS), sharing clinical characteristics and pathogenic mechanisms with MS [1] . (plos.org)
The model offers the opportunity to analyze the mechanisms through which telomeres impact age-dependent disease. (worldhealth.net)

Infertility is a high-risk and long-term side effect associated with current bone marrow transplantation and gene therapy approaches to treat sickle cell disease. (nih.gov)
To date, three different gene therapy approaches for PD have been tested in humans. (medscape.com)
Gene Augmentation approaches, such as the delivery of FGF18 and PRG4 aim to augment the natural anabolic processes within the joint, to delay the progression of cartilage degeneration. (wikipedia.org)
Other approaches include repairing an abnormal gene and altering the degree to which a gene is turned on or off. (wikipedia.org)
Subsequent presentations focused on new approaches to disease modeling, including developing "non-model" model systems and new modeling platforms. (nih.gov)
Baum's work is among many parallel efforts in the field of gene therapy, where safety and logistical concerns have delayed the clinical debut of several promising approaches. (nih.gov)
NINDS, NIAMS and the NIH Office of Rare Diseases sponsored a workshop on Therapeutic Approaches for Duchenne Muscular Dystrophy (DMD), May 15-16, 2000, in Bethesda, MD. The goals of this workshop were to address key questions in improving treatments for DMD and identify areas of needed scientific knowledge, impediments, and critical next steps to promote effective therapy. (nih.gov)
Approaches to treatment include enhancing muscle regeneration and replacing or correcting the gene at the DNA or mRNA level. (nih.gov)
At the macro-level, the group uses data science and data-driven approaches―merging computational biology, functional genomics, and molecular biology―to reconstruct and characterize environmentally- and developmentally-responsive gene networks that underlie cell identity and response. (nih.gov)
Faculty within the Hub apply multidisciplinary approaches, including single gene and single cell technologies, gene therapies, transcriptional pathway and whole genome analyses, and animal models of disease. (ohsu.edu)

It is less toxic than the conventional agent now used for gene therapy in humans, called busulfan, which may cause ovarian failure in women and may stop sperm production in men, resulting in infertility. (nih.gov)
Animals are not a perfect analogy for humans. (nih.gov)
Comparative oncology is a promising approach for translating from animals to humans. (nih.gov)
Finally, animal models can act as surrogates for treatment studies, particularly studies that may be difficult or time consuming to test in humans. (nih.gov)
Their experimental therapy was the first-ever salivary gland gene therapy tried in humans. (nih.gov)
We intended to do a proof-of-concept trial in patients with radiation-induced dry mouth just to see if the gene transfer even worked in humans. (nih.gov)
Laboratory models are rough approximations of what might happen in humans," said first author Mark Zanin, a post-doctoral fellow in Webby's lab at St. Jude. (sciencedaily.com)
They then continued administering the drug every two weeks for the next six months - at which point the animals had received thirteen rounds of senescent cell-clearing therapy, and were roughly similar to humans in their mid-fifties. (sens.org)
Although animals aren't humans, they share a lot of the same processes and types of cells that us humans have. (ucl.ac.uk)
Animals are not humans - not all diseases that humans suffer from have an animal equivalent. (ucl.ac.uk)
Animals don't always react in the same was as humans - something that improves the animal's disease won't always improve the human version of the disease. (ucl.ac.uk)
By more closely mimicking the disease's onset in humans and allowing testing on more mature animal models, this model provides a better platform to administer the calculated therapeutic doses and even adjust them if needed. (uhhospitals.org)
This discovery also helps explain the breadth of disease severity that typically occurs in humans. (worldhealth.net)

This phase I trial aimed to improve PD symptoms by promoting sprouting from the remaining dopaminergic neurons and to slow disease progression by reducing cell death. (medscape.com)
The system they have created promises to reduce the debilitating effects of eye disease and preserve eyesight by inhibiting disease progression. (nih.gov)
[ 73 ] It is important to address the biomechanical needs of a CMT patient, since there may be bilateral strength differences due to progression of the disease. (medscape.com)
meanwhile, environmental insults are also fundamental to the disease progression. (hindawi.com)
Research is also underway to develop medicines that can prevent disease progression. (nih.gov)
Scientific advances have created opportunities to detect lung diseases in their earliest stages, before they cause symptoms, and to prevent disease progression. (nih.gov)
Immunomodulatory and immunosuppressive therapies currently approved for the treatment of MS slow disease progression, but do not prevent it. (plos.org)
Myelin specific CD4 + T helper cells are important in disease initiation and progression through the secretion of proinflammatory cytokines, including interferon-gamma (IFNγ), interleukin (IL)-17 and tumor necrosis factor alpha (TNFα) [1] . (plos.org)
The benefit of this procedure, however, is limited by the fact that the disease progression is very fast and cellular and tissue damage cannot be rescued by the transplantated cells. (pdf-archive.com)
This necessitated an even more recent and significant progression, which is the development of a newer mouse model in which the onset of hearing loss is delayed. (uhhospitals.org)

Achromatopsia: Genetics and Gene Therapy. (nih.gov)
NIEHS research uses state-of-the-art science and technology to investigate the interplay between environmental exposures, human biology, genetics, and common diseases to help prevent disease and improve human health. (nih.gov)
The Genome Sciences Hub integrates basic science and clinical faculty across OHSU who work in disciplines of genetics and genomics, epigenetics, rare disease genetics, genome technologies and computational biology, stem cell and developmental biology, cancer genetics, and gene therapy. (ohsu.edu)
Infections associated with chronic granulomatous disease: linking genetics to phenotypic expression. (jax.org)
They are specially bred for this purpose and their genetics can be manipulated to emulate different diseases if there is not an animal equivalent available. (ucl.ac.uk)
Chung, M. and Lotery, A. J. (2002) Genetics update of macular diseases. (soton.ac.uk)

Researchers have identified uric acid as a potential therapy to enhance recovery from acute ischemic stroke using a new method for conducting preclinical animal research. (nih.gov)
Using a mouse model, researchers have discovered a new daily rhythm in a type of synapse that dampens brain activity. (nih.gov)
Using an experimental drug, researchers were able to suppress a mutated amyotrophic lateral sclerosis (ALS) gene. (nih.gov)
NIBIB-funded researchers have created nanoparticles for successful gene therapy of a mouse model of macular degeneration. (nih.gov)
The researchers injected the eyes of 30 rats with the nanoparticles carrying the VEGF gene. (nih.gov)
To improve and accelerate gene and vector manufacturing and production processes, the BGTC program will develop a standard set of analytic tests to apply to the manufacture of viral vectors made by consortium researchers. (nih.gov)
The researchers then tested the gene therapy in a naturally occurring canine form of RPGR X-linked retinitis pigmentosa that appears among some mixed breeds. (nih.gov)
The NIDA Translational Avant-Garde Award is designed to support dedicated and talented basic and/or clinical researchers with the vision, drive and expertise necessary to translate research discoveries into medications for the treatment of diseases of addiction. (nih.gov)
Valle stressed that each of these organisms has unique features and that researchers should choose the model that is most appropriate to answer the research question at hand. (nih.gov)
Using family relationships, allele frequency data, functional predictions, model organism results, and functional studies, researchers are able to identify the genes and variants responsible for the phenotypes. (nih.gov)
Medical researchers have developed an antibody which has proven 100 percent protective against the H5N1 virus in two species of animal models. (sciencedaily.com)
and provide training and advice about muscle diseases for researchers and physicians who provide initial diagnosis and treatment, including rehabilitation, care for cognitive and behavioral concerns, and therapy for other system complications. (nih.gov)
In addition, isolation of genes has allowed researchers to begin experiments with gene therapy, a potential cure for some metabolic diseases. (mda.org)
Now, through a viral vector , researchers have inserted the LAV-BPIFB4 gene into the DNA of animal models particularly susceptible to atherosclerosis and, consequently, to cardiovascular diseases. (lifeboat.com)
The company's technology will enable researchers to harness the endogenous epigenetic gene regulation pathway and provide medication to target cells and tissues to deliver potent and durable therapeutic effect. (pharmaceutical-business-review.com)
The researchers then waited until the animals were 12 months old (in human terms, this is similar to a person in his or her early 40s) before administering the drug for the first time. (sens.org)
This model allowed researchers to understand the pathophysiology in fine detail, as there is no noninvasive way to evaluate soft tissue pathology in the human inner ear. (uhhospitals.org)
This model empowers researchers to determine viable new medications for the disease. (worldhealth.net)
These researchers tied telomere length to risk and resistance to diseases. (worldhealth.net)
The researchers will now use mouse models of CAVD to determine if potential medication therapies can be identified. (worldhealth.net)

Gene therapy is a molecular method aiming to replace defective or absent genes, or to counteract the ones undergoing overexpression. (wikipedia.org)
AbbVie: Scientist II or Sr. Scientist I We are seeking an experienced scientist with a strong expertise in cell/molecular biology and CRISPR gene editing t. (genetherapynet.com)
Elucidation of gene networks (Figure 1) associated with specific biological phenotypes thus becomes key to understanding the molecular basis of development and pathogenesis. (nih.gov)
Gene therapy using viral vectors has recently emerged as a potent tool in the field of molecular medicine. (iitk.ac.in)

Valle said that there are three main ways that animal models-mice in particular-can be used to advance the purposes of individualized medicine. (nih.gov)
2003). Previously, Cybb function was disrupted in C57BL/6 (B6.129S- Cybb tm1Din /J, stock# 002365 ) mice resulting in a mouse model of CGD (Pollock et al. (jax.org)
That these mice are capable of immune cell humanization enhances the translational relevance of the model. (jax.org)
While NSG mice are highly deficient in lymphocytes, a limitation to using this strain is that NSG mice still maintain some phagocyte functionality, potentially confounding evaluation of therapies aimed at correcting defective phagocytes in engrafted human tissue. (jax.org)
CRISPR-Mediated Knockout of Cybb in NSG Mice Establishes a Model of Chronic Granulomatous Disease for Human Stem-Cell Gene Therapy Transplants. (jax.org)
The first is to just look at the astonishing beneficial effects of senolytic drugs or gene therapies in aging mice and mouse models of age-related disease. (sens.org)
Different animals can be used to model disease - from mice and rats to pigs and dogs. (ucl.ac.uk)
Experiments in the EAE model demonstrated down-regulation of inducible nitric oxide synthase (iNOS) gene expression in the spinal cords of mice with EAE over the course of disease, compared to sham treated animals. (plos.org)
670 nm light therapy failed to ameliorate MOG-induced EAE in mice deficient in iNOS, confirming a role for remediation of nitrosative stress in the amelioration of MOG-induced EAE by 670 nm mediated photobiomodulation. (plos.org)
The study shows a therapeutic effect of silencing the SOD1 gene in systemically treated adult ALS mice. (umassmed.edu)
Silencing of SOD1 in adult SOD1G93A transgenic mice with this construct profoundly delayed both disease onset and death in the SOD1G93A mice, and significantly preserved muscle strength, motor and respiratory functions. (umassmed.edu)
The immediate goal is to develop a drug therapy to prevent hearing loss in the mice, but the other potential that this newer animal model presents is the possible development of gene replacement therapy. (uhhospitals.org)
Gladstone Institute scientists have pinpointed a critically important mechanism that safeguards mice from enduring a human disease of aging. (worldhealth.net)
Scientists now believe that shortening telomeres in mice that have the human genetic mutation tied to heart disease causes a particularly nasty buildup of calcium within heart vessels and valves. (worldhealth.net)
The academicians who previously pinpointed NOTCH1 as being responsible for human CAVD used mice with abbreviated telomeres and missing a NOTCH1 copy as a mutation of the gene alone did not cause valve disease. (worldhealth.net)
Scientists have found it difficult to model human diseases created by the mutation of a single copy of a gene in animals like mice. (worldhealth.net)
The gradual shortening of long telomeres that serve protective purposes in mice reproduced the disease caused by the mutation of NOTCH1 and recapitulated the breadth of disease severity in human beings. (worldhealth.net)

Human spinal cord cell atlas provides foundation to study neurodegeneration, chronic pain, and other diseases. (nih.gov)
The discussion of human trials explored the justification for moving from animal models to human testing, patient population concerns, lessons learned from previous human gene therapy trials, and the role of industry in support of basic and clinical research. (nih.gov)
The Ultra-Rare Gene-Based Therapy (URGenT) network supports Investigational New Drug (IND)-enabling studies and planning activities for First-in-Human (FIH) clinical testing of gene-based or transcript-directed therapeutics, such as oligonucleotides and viral-based gene therapies, for ultra-rare neurological or neuromuscular disorders. (nih.gov)
Furthermore, several animal models of PD that accurately reflect the human disorder are available to test new therapies. (medscape.com)
In general, these models mimic the loss of dopaminergic neurons and the resultant abnormal basal ganglia function found in the human disease. (medscape.com)
In animals that received the vector, a marked improvement was observed in symptoms typically observed in human PD, including tremor and slow movements. (medscape.com)
The nanoparticle carriers have the potential to significantly expand the growing repertoire and effectiveness of gene therapies for human eye diseases, including blindness. (nih.gov)
Presenters first explored the translatability, alignment, and relevance of current animal models to the human condition. (nih.gov)
No one had tried gene therapy in the human salivary gland. (nih.gov)
It wasn't clear whether the human salivary gland would function the same way as the animal models. (nih.gov)
We did see complete protection against H5N1 in ferrets, which have long been used as a model for human flu, so we are confident in our results. (sciencedaily.com)
Several thousand human disease genes have been identified over the past 25 years. (nih.gov)
In addition to gene therapies, Reliance Life Sciences is developing a range of human and animal health vaccines and mRNA products. (iitk.ac.in)
If research involving human embryonic stem cells (ESCs) is to achieve its potential for creating breakthrough medical therapies, additional new cell lines should be created, and therapeutic cloning--or somatic cell nuclear transfer (SCNT)--should be employed, according to an expert panel of the National Academy of Sciences. (the-scientist.com)
The Albert Lasker Award for Basic Medical Research went to three individuals who pioneered the use of mouse embryonic stem cells to create animal models for human disease. (the-scientist.com)
Modification of existing genes in living animal and human cells is enabled by engineered nucleases such as meganucleases, zinc finger nucleases, transcription activator-like effector-based nucleases, and the CRISPR-Cas system. (cdc.gov)
Synthetic biology promises tremendous societal benefits in treating human genetic disease. (cdc.gov)
Epigenic stated that the heritable epigenetic modification regulates gene naturally in the human body without changing the underlying DNA sequence. (pharmaceutical-business-review.com)
this resulted in phagocytes that are incapable of ROS production in a mouse model that is capable of engrafting human hematopoietic cells. (jax.org)
This study represents an exciting step forward in the development of an in vivo model for CGD capable of engrafting healthy or diseased human hematopoietic stem cells. (jax.org)
For a long time, using animals posed the best possible way to investigate human diseases. (ucl.ac.uk)
As a result, it is possible to emulate lots of different human diseases in these animals and study what is happening and test out different potential therapies. (ucl.ac.uk)
If they do then these may not work in the same way as the human version of the disease. (ucl.ac.uk)
Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. (igbmc.fr)
Our paper was one of the first in the field to show the potential of RNAi in treating human disease. (the-scientist.com)
Cetya has generated a library of high potency HDAC inhibitors, one of which, CT-101, has demonstrated efficacy in inducing HbF expression in β- thalassemia and sickle cell erythroid progenitors and in the β-YAC mouse model that contains the normal human β-globin gene locus,without significant anti-proliferative effects. (sbir.gov)
The manufacturing process for the compound, CT-101, will be optimized at Cetya, and then manufacturing scaled for animal studies and formulation for oral dosage in human trials. (sbir.gov)
Yet the manner in which telomere length impacts human disease has been unresolved. (worldhealth.net)
The model could also lead to solutions to other human disorders of aging. (worldhealth.net)
The findings show that telomere length plays a critical role in the mouse model of human disease that is age-dependent. (worldhealth.net)

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. (nih.gov)
Unlike pharmacological treatments which are administered locally or systemically as a series of interventions, gene therapy aims to establish sustained therapeutic effect after a single, local injection. (wikipedia.org)
Rare diseases affect 25 to 30 million Americans, but because any given rare disorder affects so few patients, companies often are reluctant or unable to invest the years of research and millions of dollars necessary to develop, test and bring individualized gene therapy treatments for a single disease to market," said Joni L. Rutter, Ph.D., acting director of NIH's National Center for Advancing Translational Sciences (NCATS). (nih.gov)
The BGTC aims to make it easier, faster and less expensive to pursue bespoke gene therapies in order to incentivize more companies to invest in this space and bring treatments to patients. (nih.gov)
MDA's extensive research program includes studies to help in developing new treatments for metabolic diseases of muscle, such as strategies designed to replace the enzymes that are missing in these disorders. (mda.org)
A variety of cell and animal models are available to test potential SMA treatments. (nih.gov)
We have funded studies on promising new treatments, provided better information about treatments for different levels of asthma severity, and discovered other differences between patients that may help health care professionals predict how patients may respond to treatment or how their disease may progress. (nih.gov)
To date, no effective therapies or treatments exist for SMARD1. (neurodegenerationresearch.eu)

Choose from one of many volunteer opportunities and make a difference for people living with neuromuscular diseases. (mda.org)
We are finally close to doing this for two pediatric neuromuscular diseases, Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA). (nih.gov)

The 1998 Workshop on Retinal Gene Therapy evaluated the potential of gene therapy in treatment of retinal disease. (nih.gov)

A number of eye diseases have benefited from gene therapies where DNA coding for therapeutic proteins is delivered to cells in the eye. (nih.gov)
If genes do not produce the right proteins in a correct way, a child can develop a genetic disorder. (wikipedia.org)
Baum guessed that delivering a gene for one of the pore-forming proteins, called aquaporin 1, into damaged salivary glands might enable existing cells to transport water and restore saliva production. (nih.gov)
Biosynthesis of carbohydrate moieties of glycoproteins, unlike that of DNA, RNA, or proteins, is a template-independent reaction, that is, their structures are not directly encoded by genes. (intechopen.com)
Lead author, Dr Darnel Prakoso said they used a gene therapy to modify the proteins that are released into the blood following a heart attack. (diabetesaustralia.com.au)
We previously identified 3 main genes mutated in CNM, all encoding proteins that regulate membrane and cytoskeleton dynamics: the phosphoinositides phosphatase myotubularin (MTM1), the membrane remodeling amphiphysin 2 (BIN1), and the membrane fissioning GTPase dynamin 2 (DNM2). (igbmc.fr)
These DNA errors are within genes that contain the instructions for the production of proteins that are important for the functioning of the peripheral nerves. (mydr.com.au)

Current therapies deliver the DNA using viral vectors, but this method has limitations, including the development of an immune response against the viral carrier and limits to the size of gene that will fit in the virus. (nih.gov)
Engineers and ophthalmologists have teamed up to address the limitations of viral vectors in the treatment of blinding eye diseases such as wet age-related macular degeneration (AMD). (nih.gov)
Gene Therapy of Autoimmune Diseases comprehensively reviews research in gene therapy for autoimmune diseases with viral or non-viral vectors. (chipsbooks.com)

Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and kill specialized nerve cells in the brain and spinal cord (motor neurons). (nih.gov)
M any types of spinal muscular atrophy are caused by changes in the same genes. (nih.gov)
In Europe, some gene therapies have already been approved - for example, for spinal muscular atrophy (SMA), a congenital neuromuscular disease with severe muscle weakness and atrophy. (bionity.com)
DESCRIPTION (provided by applicant): Spinal Muscular Atrophy with Respiratory Distress 1 (SMARD1) or Distal Spinal Muscular Atrophy (DSMA1) is a fatal autosomal recessive genetic disorder that is the second most common motor neuron disease in children. (neurodegenerationresearch.eu)

ACHM is an inherited eye disease characterized by a congenital absence of cone photoreceptor function. (nih.gov)
We recently uncovered that lysosomal cathepsin D-deficiency is a common pathogenic link between CLN1 -disease (INCL) and CLN10 -disease (congenital NCL). (nih.gov)
Children with severe symptoms of CMT are sometimes classified as having CMT type 3, congenital hypomyelinating neuropathy (CHN) or Dejerine-Sottas disease (DSD). (mydr.com.au)

Along with our scientific co-founders and advisers, we are able to expand our understanding of precise regulation of epigenetic genome, and unlock its potential as medicine for many diseases. (pharmaceutical-business-review.com)

In the future it can be expected that more effective therapies, for example gene therapy, personalized medicine such as read-through drugs, and early initiation of treatment may change the prospect for fucosidase patients. (pdf-archive.com)

The study, which appears in Nature Communications , describes the successful testing in animals of an antibody-drug conjugate, or conditioning agent, that exclusively targets blood-forming stem cells in the bone marrow. (nih.gov)
Conditioning agents are used in gene therapy to remove diseased stem cells and allow healthy stem cells to form. (nih.gov)
Lentiviral vectors belong to a distinct class of retroviral vectors that are capable of transferring genes into nondividing cells. (medscape.com)
For this purpose, genes may be inserted into delivery vectors and administered to target cells to augment or replace defective genetic material. (wikipedia.org)
This method of gene therapy is more complicated since the cells first have to be harvested from the patient in an invasive procedure. (wikipedia.org)
This "cloaking" often requires the use of additional genetic manipulation, such as the insertion of a CD47 gene to express a "don't eat me" signal on the surface of the cells to make them hypoimmune. (wikipedia.org)
A major challenge with the use of cell therapy for Osteoarthritis is the nature of the articular joints, which experience significant shear leading to rapid loss of transplanted cells. (wikipedia.org)
Scientists from the University of Pennsylvania and the University of Florida, Gainesville also determined for the first time that gene therapy may be of potential benefit even after there has been significant loss of cells in the eye. (nih.gov)
The technology modifies this location to optimize its ability to deliver genes to the affected cells and improve its effectiveness. (iitk.ac.in)
A second capability of synthetic biology involves the re-design of existing genes, cells or organisms for the purpose of gene therapy. (cdc.gov)
A promising therapeutic approach to treat CGD involves gene therapy on hematopoietic stem cells isolated from patients, followed by autologous cell transplantation. (jax.org)
It just takes a moment's thought to realize that just one such replication can't possibly be enough to drive a stem/progenitor cell into senescence: if it did, of course, senolytic therapies would fail to reduce the net burden of senescent cells. (sens.org)
Also, if these drugs were not killing more senescent cells than they indirectly produced, you wouldn't get relief from the harmful effects of having a high burden of senescent cells - and, of course, you do , in multiple tissues and in multiple models of aging and age-related disease. (sens.org)
Still, even if a single round of senolytics isn't enough to drive your stem cells senescent, what if you turn one tissue stem cell senescent for every two times they are triggered to proliferate by senolytic therapy - or every three, or four, or ten? (sens.org)
I decided that my new lab would work on understanding the T-cell response to HIV and why these cells fail to control the infection, with an eye towards developing immune-based therapy. (the-scientist.com)
An ex-vivo gene therapy experiment was performed in a canine model whereby a retroviral gene transfer into autologous hematopoietic stem cells was used. (pdf-archive.com)
Canine fucosidosis: a model for retroviral gene transfer into haematopoietic stem cells. (pdf-archive.com)
Histone deacetylase (HDAC) 1, 2, and 3, are components of the NURD repressor complex, which promotes silencing of the fetal γ-globin genes in adult erythroid cells. (sbir.gov)

Encouraged by these results, we used RNA silencing to target an HIV gene that encodes for the viral capsid, and found that we could knock down both the host mRNA and the viral mRNA within the host cell. (the-scientist.com)

Stem-cell and gene-transfer therapies are the most promising forms of treatment for the cure of CMT. (medscape.com)
Download instantly Stem Cell and Gene Therapy for Cardiovascular Disease by Emerson C. Perin, Leslie W. Miller, Doris Taylor, James T. Willerson. (booksca.ca)

Gene therapy has made a resurgence over the past decade as a potential means of treatment for a variety of diseases. (medscape.com)
And subsequent rounds of treatment are often unsuccessful because the immune system of the patient has developed antibodies that attack and neutralize the gene-carrying virus. (nih.gov)
Genetically modified cell therapies for the treatment of osteoarthritis are currently strictly investigated and their safety and effectiveness claims have not been reviewed by the FDA. (wikipedia.org)
The 214 research goals are focused on areas that would materially advance knowledge about liver diseases and improve means for their diagnosis, monitoring, treatment, and prevention. (nih.gov)
Testing of new formulations of marketed medications that are available for other indications, or new combinations of existing medications, which may be promising candidates for the treatment of diseases of addiction is within the scope of this FOA. (nih.gov)
Testing of new formulations of marketed medications that are available for other indications, or new combinations of existing medications, which may be promising candidates for the treatment of diseases of addiction is within the scope of this Translational Avant-Garde Award. (nih.gov)
In Charcot-Marie-Tooth disease (CMT), no treatment currently exists to reverse or slow the natural disease process for the underlying disorder. (medscape.com)
[ 82 ] Some promising results have been reported for antiprogesterone therapy and ascorbic acid treatment for CMT-1A in animal CMT-1A models. (medscape.com)
Animal models are key for confirming causation, for understanding pathophysiology, and as surrogates for treatment studies. (nih.gov)
Though research has recently revealed much about genetic defects associated with many forms of muscular dystrophy, treatment for the diseases has not changed significantly. (nih.gov)
There is a need to learn more about pathogenesis of the diseases and improve early detection and screening, diagnosis, treatment, and prevention. (nih.gov)
Efforts to develop such "enzyme replacement therapies" already have been rewarded with the U.S. Food and Drug Administration's approval in 2006 of Myozyme , a laboratory-modified acid maltase enzyme developed by Genzyme of Cambridge, Mass., with the support of MDA, for the treatment of Pompe disease . (mda.org)
A research team at the Hannover Medical School (MHH) led by Professor Dr Hildegard Büning, AAV expert and deputy head of the Institute for Experimental Haematology, has developed two new AAV variants that are more effective and can therefore be considered for the targeted treatment of liver diseases . (bionity.com)
NHLBI-supported research has made, and continues to make, significant progress in improving the diagnosis and treatment of lung diseases. (nih.gov)
SD-OCT is providing reproducible, high-quality, registered images to assess the treatment response in macular disease. (ophthalmologytimes.com)
Successful treatment options can offer hope for patients with inherited disease. (ophthalmologytimes.com)
Investigators believe the therapy could prove to be an option for the treatment of other retinopathies. (ophthalmologytimes.com)
Moreover, pharmacological treatment with 33i, improved cognitive dysfunction and long-term potentiation, reducing amyloid pathology and neuroinflammation in the APP/PS1 AD mouse model. (unav.edu)
Animals receiving 670 nm light treatment also exhibited up-regulation of the Bcl-2 anti-apoptosis gene, an increased Bcl-2:Bax ratio, and reduced apoptosis within the spinal cord of animals over the course of disease. (plos.org)
By understanding the primary defect in the pathophysiology of these diseases, treatment can be directed to the earlier stages in disease pathways, perhaps delaying or preventing the onset of vision loss. (soton.ac.uk)
The β-hemoglobinopathies are prevalent genetic blood diseases with few treatment options. (sbir.gov)
Currently no treatment is available although several experimental therapies are being tested in animal models. (hhs.gov)
The goal of this proposal is to establish a practically deliverable dosing and treatment regime with long- term therapeutic efficacy in clinically relevant mouse models for IND application. (hhs.gov)

They are genetic conditions and more than 30 different genes have been shown to cause the different types of CMT. (mydr.com.au)

When used in adults with sickle cell disease, fetal hemoglobin can reduce complications associated with the disease, and reactivating and increasing its production is a promising goal for gene therapy. (nih.gov)
One type of gene therapy, also often referred to as Cell Therapy (or genetically modified Cell Therapy) in which the gene transfer takes place outside the patient's body is called ex vivo gene therapy. (wikipedia.org)
Electrical recordings from the retina also suggested that the therapy preserved cell function. (nih.gov)
Overall, the findings suggest that gene therapy halted disease-associated cell death for at least the length of the 2.5-year study. (nih.gov)
During development and in response to environmental insults, various signaling cascades culminate in the activation of appropriate master transcription factors (TFs) and chromatin remodeling enzymes to establish gene expression programs controlling cell fate decisions. (nih.gov)
Gene and cell therapies represent a new and innovative stream of products, aimed to reinforce Reliance Life Sciences' strong play in biosimilars and pharmaceutical products. (iitk.ac.in)
While the transfer of already existing genes from one cell to another characterized an earlier phase of the field of biotechnology, synthetic biology involves the design, assembly, synthesis, or manufacture of new genomes, biological pathways, devices or organisms not found in nature. (cdc.gov)
With the advancement of cell model technologies there has been a decrease in the use of animal models. (ucl.ac.uk)
This is because cell models don't have many of the negatives of animal models. (ucl.ac.uk)
The publisher's latest Pharmaceutical and Healthcare disease pipeline guide Globoid Cell Leukodystrophy - Pipeline Review, H1 2020, provides an overview of the Globoid Cell Leukodystrophy (Central Nervous System) pipeline landscape. (researchandmarkets.com)
Krabbe disease also called globoid cell leukodystrophy is a degenerative disorder caused by the deficiency of an enzyme called galactosylceramidase. (researchandmarkets.com)
The Globoid Cell Leukodystrophy (Central Nervous System) pipeline guide also reviews of key players involved in therapeutic development for Globoid Cell Leukodystrophy (Krabbe Disease) and features dormant and discontinued projects. (researchandmarkets.com)
Tom Tuschl had found that genes could be silenced by introducing small double-stranded RNAs into a cell. (the-scientist.com)
Knocking down either gene could stop the spread of the infection in cell culture. (the-scientist.com)
CT-101 in the β-YAC model to optimize dose and schedule, and then confirm efficacy in the Townes sickle cell disease mouse model. (sbir.gov)
YAC and Townes sickle cell disease mouse models through epigenetic histone modifications. (sbir.gov)
Our experimental approach rests on the scientifically validated concept of the inhibition of sickle hemoglobin polymerization by HbF and red blood cell sickling by reversing a well-known epigenetic γ-globin gene silencing mechanism. (sbir.gov)

Only in the last year have a handful of these therapies-two for blood cancers and one for an inherited form of blindness-received US Food and Drug Administration approval. (nih.gov)
The therapy for blindness is the only one in which a corrective gene is directly administered to the patient. (nih.gov)
It has shown significant promise in correcting the vision impairment in animal models of blindness. (iitk.ac.in)
Usher syndrome is an incurable genetic disease that is the most common cause of the dual sensory deficits of deafness and blindness. (uhhospitals.org)

He chose a genetically altered adenovirus as the gene-delivery vehicle, or vector. (nih.gov)
However, unlike real world onset, which is gradual, the genetically engineered mouse developed hearing loss very quickly, and injecting the potential therapeutic agents early is toxic to the young animal. (uhhospitals.org)

Chinese biotechnology firm Epigenic Therapeutics has secured $20m in Series Angel and Pre-A funding to proceed with next-generation gene editing therapy. (pharmaceutical-business-review.com)
Epigenic Therapeutics co-founder and CEO Bob Zhang said: "Epigenetic editing is an emerging and highly differentiated gene editing technology. (pharmaceutical-business-review.com)
Morningside Venture Capital managing director Michael Xue said: "Epigenic Therapeutics is uniquely positioned in various gene editing therapy developers. (pharmaceutical-business-review.com)

Partnership aims to optimize the gene therapy development process to help fill the unmet medical needs of people with rare diseases. (nih.gov)
The newly launched Bespoke Gene Therapy Consortium (BGTC) , part of the NIH Accelerating Medicines Partnership (AMP) program and project-managed by the Foundation for the National Institutes of Health (FNIH), aims to optimize and streamline the gene therapy development process to help fill the unmet medical needs of people with rare diseases. (nih.gov)
Reliance Life Sciences is developing several gene therapies to address unmet clinical needs. (iitk.ac.in)

NHLBI is the global leader in conducting and supporting research in heart, lung, and blood diseases and sleep disorders that advances scientific knowledge, improves public health, and saves lives. (nih.gov)
In the case of neurological disorders, the majority of clinical gene therapy studies have focused on Parkinson disease (PD). (medscape.com)
These include the blood coagulation disorders haemophilia A or B or the metabolic disease phenylketonuria . (bionity.com)
There are many inherited disorders caused by a faulty gene. (iitk.ac.in)
Gene Therapy' is a way to replace the faulty gene with a functional version of the gene to treat such disorders. (iitk.ac.in)

While there are approximately 7,000 rare diseases, only two heritable diseases currently have FDA-approved gene therapies. (nih.gov)
A single rare disease affects small numbers of people, but rare diseases collectively affect millions. (nih.gov)
However, gene therapy development for rare diseases is highly complex, time consuming and expensive. (nih.gov)
FDA is committed to developing a regulatory paradigm that can advance gene therapies to meet the needs of patients with rare diseases. (nih.gov)
The NHLBI supports research on many other lung diseases, including rare diseases such as pulmonary fibrosis, cystic fibrosis, and lymphangioleiomyomatosis (LAM). (nih.gov)
Readily available - particularly for rare diseases. (ucl.ac.uk)

Gene Ther. (jax.org)

Noting the importance of soil ecosystems to overall ecosystem health and diversity, it is especially important to be able to devise a technique to measure impacts on non-target organisms (NTOs) and biogeochemical processes, such as fungi, invertebrates, disease antagonists, soil microbial communities, as these all contribute to nutrient provision in plants and soil fertility, health and structure. (environmentalpillar.ie)
Organisms, like plants and more primitive animals that don't have adaptive immune systems, use RNAi to attack and degrade viral mRNAs. (the-scientist.com)

The Commission was established in 2005 by the NIH Director, with a primary charge to develop the research plan, which will include a chapter dedicated to diseases of the liver and biliary system. (nih.gov)
Our research will leverage these advances to develop and test interventions that could prevent those lung diseases from affecting a person's quality of life or causing permanent lung damage. (nih.gov)
People with diabetes are between two and four times more likely to develop heart disease. (diabetesaustralia.com.au)

Most rare inherited diseases stem from a specific gene mutation that is already known, making gene therapy a promising therapeutic approach. (nih.gov)
Why an HR targeting vector is a recommended Even though gene knock-outs can result from DSBs caused by Cas9 alone, SBI recommends the use of HR targeting vectors (also called HR donor vectors) for more efficient and precise mutation. (reportergene.com)
There are more than 30 different types of CMT, each caused by a mutation in a different gene. (mydr.com.au)
Approximately 20% of familial ALS and 1-3% of sporadic ALS patients carry a mutation in the gene encoding superoxide dismutase 1 (SOD1). (umassmed.edu)
As reported in the Journal of Neuroscience in July 2012, Kumar Alagramam, PhD, Anthony J. Maniglia Chair for Research and Education, Director of Research and Associate Professor of Otolaryngology, Case Western Reserve University School of Medicine and his co-investigator Yoshikazu Imanishi, PhD, Assistant Professor, Case Western Reserve University Department of Pharmacology, developed the first mouse model to mimic the N48K mutation in Usher III patients. (uhhospitals.org)
The disease develops as one ages and one of two NOTCH1 gene copies endures a mutation. (worldhealth.net)

SMA is the most common severe hereditary disease of infancy. (nih.gov)
Developed by Prof. Jayandharan Giridhara Rao and Mr. Shubham Maurya from the Department of Biological Sciences and Bioengineering (BSBE), IIT Kanpur, the patented technology modifies the gene of an organism to treat a hereditary disorder. (iitk.ac.in)
The technology has the ability to improve gene therapy for many hereditary diseases, especially inherited eye diseases. (iitk.ac.in)

Ltd. that has the potential to revolutionize the field of gene therapy, especially for many genetic eye diseases. (iitk.ac.in)

As the body ages, catabolic factors begin to predominate over anabolic factors resulting in a reduction of extracellular matrix gene expression and reduced cellularity in articular cartilage. (wikipedia.org)
These four centers are seeking to identify all genes that have high-penetrance variants (i.e., genetic variants that often result in expression of the associated phenotype). (nih.gov)
The Jothi group is interested in understanding how transcription regulators and epigenetic modifications regulate gene expression programs during cellular development and differentiation, and apply this knowledge to aid in the development of diagnostic and therapeutic strategies for cancer and other diseases. (nih.gov)
For successful clinical application, several optimization of the basic process is needed aimed at ensuring adequate expression of the desired gene. (iitk.ac.in)
Thus, injections of HD-CAV-2 vectors in the brain allow a global and sustained expression and may have implications for brain therapy in patients with lysosomal storage disease. (cnrs.fr)
I was intrigued and perplexed by the paper: how could a double-stranded RNA possibly silence gene expression? (the-scientist.com)
It is thought that the length of telomeres impacts the severity of diseases through the alteration of gene expression. (worldhealth.net)

The present review summarizes the current status of achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. (nih.gov)
By leveraging on experience with a platform technology and by standardizing processes, gene therapy product development can be accelerated to allow more timely access to promising new therapies for patients who need them most," said Peter Marks, M.D., Ph.D., director of FDA's Center for Biologics Evaluation and Research. (nih.gov)
Gene therapy preserved vision in a study involving dogs with naturally occurring, late-stage retinitis pigmentosa, according to research funded by the National Eye Institute (NEI), part of the National Institutes of Health. (nih.gov)
Before the therapy can be tested in people, additional research is needed to assess its safety and the risk for potential toxicity, said the study's co-leaders, Gustavo Aguirre, V.M.D., Ph.D., and William Beltran, D.V.M., Ph.D., of the University of Pennsylvania. (nih.gov)
Action Plan: 16 Topic Areas of Liver Disease-Related Research. (nih.gov)
Active Initiatives in Liver Disease Research. (nih.gov)
NIH Funding of Liver Disease Research. (nih.gov)
This Progress Review of the trans-NIH Action Plan for Liver Disease Research describes progress made toward reaching the Action Plan's research goals during 2006, the second year following its release. (nih.gov)
Progress Review is to aid in the implementation of the Action Plan through an ongoing assessment of progress and the need for further efforts to promote liver and biliary disease research. (nih.gov)
Institutes of Health (NIH) involved in liver disease research. (nih.gov)
The primary purpose of the Action Plan is to advance research on liver and biliary diseases with the ultimate aim of decreasing the burden of these diseases in the United States. (nih.gov)
States, the status of liver disease research, and lists 214 specific research goals for the future, with background and justification for each. (nih.gov)
The Action Plan is an ambitious and optimistic document that provides a structure and focus for research on liver and biliary diseases, which together rank among the top 10 causes of death in the United States. (nih.gov)
Diseases' development of a long-range research plan for digestive diseases. (nih.gov)
Now a team of investigators from St. Jude Children's Research Hospital, Stanford University Medical Center, and MacroGenics have developed an antibody which has proven 100 percent protective against the virus in two species of animal models. (sciencedaily.com)
We have seen this in H5N1 viruses," said corresponding author Richard Webby, PhD, a Member in the Infectious Diseases Department at St. Jude Children's Research Hospital, Memphis, TN, and Director of the World Health Organization (WHO) Collaborating Center for Studies on the Ecology of Influenza Viruses in Lower Animals and Birds. (sciencedaily.com)
NHLBI research has the potential to improve the health and quality of life for people with lung diseases. (nih.gov)
Our research also seeks to address health disparities related to lung diseases. (nih.gov)
In the past, the same research group had identified a variant of this gene, the so-called LAV ("longevity associated variant"), which prevails in people over 100 years of age. (lifeboat.com)
Dr. Bohm has over 30 years of experience in nonhuman primate biomedical research focused in the areas of infectious disease model development, nonhuman primate medicine and surgery, nonhuman primate breeding colony management and preventive medicine programs, and animal resources administration. (ohsu.edu)
In these roles he provided team-led oversight for the research program, operations, animal resources, and strategic planning for the centers. (ohsu.edu)
He was the Director of the Tulane University Laboratory Animal Medicine Residency/Post-doctoral fellowship Program and Director of the Tulane Center of Excellence for Emerging and Re-emerging Infectious Disease Research. (ohsu.edu)
In 2023, Dr. Bohm was named Chair of the Infectious and Emerging Diseases Working Group (IEDWG) of the NIH Nonhuman Primate Research Consortium. (ohsu.edu)

Retinitis pigmentosa is the most common inherited disease that causes degeneration of the retina, the light-sensitive tissue lining the back of the eye. (nih.gov)
and Retinitis pigmentosa, a disease causing progressive sustained vision loss. (iitk.ac.in)
2. Petrs-Silva H and Linden R. Advances in gene therapy technologies to treat retinitis pigmentosa. (reportergene.com)

Instead of single gene transfer via an AAV vector, Jarraya and colleagues used a lentiviral vector that included all three genes necessary for dopamine synthesis-tyrosine hydroxylase ( TH ), AADC and guanosine 5′-triphosphate cyclohydrolase 1 ( GCH1 ). (medscape.com)
These diseases are expected to be rare, single-gene diseases with no gene therapies or commercial programs in development and that already have substantial groundwork in place to rapidly initiate preclinical and clinical studies. (nih.gov)
There are numerous severe, hardly treatable monogenetic diseases that are caused by a defect in a single gene - also in the liver . (bionity.com)

In this proposal, we will first optimize dosage and administration regime of ribitol in fkrp P448L mutant mouse model by testing a range of doses with both routes of gavage administration and in drinking water. (hhs.gov)

Many of the objectives, compelling questions, and critical challenges identified in the plan focus on lung biology and diseases. (nih.gov)
Progress in this branch of synthetic biology has yielded remarkable therapeutic advances in gene therapy well beyond the achievements of conventional drugs and biologic agents. (cdc.gov)
The biosafety concerns about synthetic biology and its gene-editing tools are similar to the concerns lodged about recombinant DNA technology when it emerged in mid-1970s. (cdc.gov)

were able to deliver all three genes in a single vehicle-a potential technical advantage over the use of other vectors. (medscape.com)
Here we tested the potential of a helper-dependent CAV-2 vector expressing beta-glucuronidase (HD-RIGIE) in a mouse model of mucopolysaccharidosis type VII (MPS VII), a lysosomal storage disease caused by deficiency in beta-glucuronidase activity. (cnrs.fr)
Tissue-engineered skeletal muscle can serve as a physiological model of natural muscle and a potential therapeutic vehicle for rapid repair of severe muscle loss and injury. (duke.edu)
The IEDWG utilizes expertise of NHP scientists to ready a rapid response to infectious disease outbreaks and potential pandemics. (ohsu.edu)

While IGHMBP2 is ubiquitously expressed, motor neurons are a primary tissue in disease development, resulting in a pronounced wasting of skeletal muscle including the diaphragm. (neurodegenerationresearch.eu)

A study in a nonhuman primate model of Parkinson disease has reported motor deficit improvements following the use of a lentiviral vector to restore extracellular dopamine levels. (medscape.com)
Indeed, the smaller size of AAV meant that multiple vectors were required to deliver the three dopamine synthesis genes in an earlier nonhuman primate PD study, although similarly promising results were obtained. (medscape.com)

Autoimmune Liver Disease. (nih.gov)
Experimental autoimmune encephalomyelitis (EAE) is the most commonly studied animal model of multiple sclerosis (MS), a chronic autoimmune demyelinating disorder of the central nervous system. (plos.org)
Gene Therapy of Autoimmune Diseases discusses the most promising avenues in this exciting new field. (chipsbooks.com)

The most common form of gene therapy involves inserting a normal gene to replace an abnormal gene. (wikipedia.org)

The National Institutes of Health, U.S. Food and Drug Administration, 10 pharmaceutical companies and five non-profit organizations have partnered to accelerate development of gene therapies for the 30 million Americans who suffer from a rare disease. (nih.gov)
development of gene therapies for metabolic diseases. (mda.org)

Anatomy5

Organisms10

Diseases9

Chemicals and Drugs8

Analytical, Diagnostic and Therapeutic Techniques and Equipment10

Psychiatry and Psychology1

Phenomena and Processes9

Adeno-assoc7

Mutations18

Neurodegenerative26

Alzheimer's3

Therapeutic genes5

Protein20

Clinical trials8

Mechanisms10

Approaches10

Humans13

Progression10

Genetics6

Researchers20

Molecular4

Mice17

Human30

Treatments8

Neuromuscular diseases2

Retinal Gene Therapy1

Proteins7

Viral vectors3

Spinal muscula4

Congenital3

Genome1

Effective therapies1

Cells18

Encodes1

Stem cell2

Treatment23

Different genes1

Cell17

Blindness4

Genetically2

Therapeutics3

Unmet3

Disorders5

Rare diseases6

Ther1

Organisms2

Develop3

Mutation6

Hereditary3

Field of gene1

Expression7

Research23

Retinitis3

Single gene3

Optimize1

Biology3

Potential4

Neurons1

Nonhuman primate2

Autoimmune3

Involves1

Development of gene2