Sentences with phrase «genetic model of the disease»

Mice bred to carry a gene variant found in a third of ALS patients have a faster disease progression and die sooner than mice with the standard genetic model of the disease, according to Penn State College of Medicine researchers.

Not exact matches

Zebrafish are commonly used to model human diseases, in part because their larvae are transparent, making it easy to see the effects of genetic mutations or drugs.

The research is also the first to demonstrate beneficial effects of UDCA on dopaminergic neurons, the nerve cells affected in Parkinson's disease, in a fly model of Parkinson's disease which carries the same genetic change as some patients with the condition.

The identification of these genetic defects has fed back to create ever more realistic animal models of the diseases, as mentioned earlier for Huntington's disease.

Using CRISPR / Cas9, the Hamon Center team was able to correct the genetic defect in a mouse model of DMD and thus prevent the development of features of the disease, which in boys causes progressive muscle weakness and degeneration, often along with breathing and heart complications.

«Drug candidate stops extra bone growth in animal model of rare, genetic disease.»

They generated a list of 18 genetic variations found only in people with Fuchs dystrophy, later narrowing the list to three most relevant to disease with the help of corneal laboratory models.

The most important advancement in medicine in the last 25 years was the development of genetic modeling in animals, enabling us to figure out how fundamental mechanisms of physiology and disease work, such as in bone loss.

«We found many examples in which an entire species should have a serious genetic ailment, but instead were healthy,» said Nicholas Katsanis, Ph.D., director of the Center for Human Disease Modeling and professor cell biology and pediatrics at Duke.

The new finding is the latest evidence supporting a growing precision medicine model of psychiatric disease in which disruptions of certain genes during brain development contribute to a person's risk for multiple psychiatric disorders, with other genetic or epigenetic drivers, random developmental events, or environmental influences determining the specific disease an individual develops, said senior author Benjamin Cheyette, MD, PhD, an associate professor of psychiatry and a member of the UCSF Weill Institute for Neurosciences and the Kavli Institute for Fundamental Neuroscience at UCSF.

Previous studies from this group have shown that lowering tau levels reduces abnormal brain activity in models of Alzheimer's disease, but this is the first demonstration that tau reduction may also be beneficial in intractable genetic epilepsy.

Using genetic engineering technology, a team of scientists has established a pig model of Huntington's disease (HD), an inherited neurodegenerative disease.

The discovery was made by developing a mouse model of the disease that enabled researchers to track which of 15 genetic groups — or subclones — of myeloma cells spread beyond their initial site in the animals» hind legs.

This work illustrates how the study of inbred canine populations can provide new insights into the genetic underpinnings of complex disease, bridging the gap between small rodent models and humans.

Using genetic models in a variety of organisms — yeast, nematodes, fruit flies, zebrafish — PLab aims to identify candidate treatment compounds for each disease, which can then be refined and taken to the clinic with partner companies.

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease - in - a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia (A-T).

In order to address this, Greka and her colleagues began their investigation with a rare genetic type of kidney disease, and, using a rat model, set out to understand the genes, proteins, and pathways involved in the organ's deterioration.

In a genetic rat model of progressive kidney disease, AC1903 protected the kidney's filtration cells.

That has implications for genetic models that predict how likely it is that members of a family will inherit a trait, whether it's a disease such as schizophrenia or a physical trait, such as height.

Now, a study in the journal Brain describes what could be considered a direct «aquarium - to - bedside» approach, taking a drug discovered in a genetic zebrafish model of epilepsy and testing it, with promising results, in a small number of children with the disease.

One model proposes that genetic diversity was lost in two distinct bottlenecks, where groups of hundreds or thousands of migrating people were quickly decimated by disease, starvation, warfare, or some other cause, dramatically reducing the number of adults who bore children that survived.

[These diseases pose] a high enough risk that it falls squarely within a medical model of the use of preimplantation genetic diagnosis,» unlike screening for sex or cosmetically desirable traits, he says.

These models allow genetic dissection of calcification which is to relevant to many diseases like atherosclerosis, gout, stone and bone formation.

«This model, when combined with a rare genetic disease, revealed for the first time how a protein known to prevent tumor growth in most cases, p53, may instead drive bone cancer when genetic changes cause too much of it to be made in the wrong place.»

While some seek to use iPSCs as replacements for cells compromised by disease, the new Mount Sinai study sought to determine if they could serve as an accurate model of genetic disease «in a dish.»

Furthermore, the same technologies used to create genetic models of cancer show promise as gene therapies capable of repairing mutations that lead to a range of diseases.

However, Takebe's liver bud has the advantage of being grown from iPS cells, rather than, for example, the primary human hepatocytes used in Bhatia's graft, which could make it useful in modelling rare diseases or examining the specific genetic backgrounds of the iPS cell donors.

The similarity of the mouse and human genetic make - up means that genes associated with disease in humans can be studied and further investigated in mouse models.

«We can harness the power of zebrafish genetics to create genetic models of human diseases.»

Bar Harbor, Maine — October 21, 2004 — The Jackson Laboratory is pleased to announce that it has received support from the Spinal Muscular Atrophy Foundation to make available the first group of mouse models for spinal muscular atrophy (SMA), a neuromuscular disease and the leading genetic cause of death among infants and toddlers.

Human embryonic stem cells derived from affected embryos during a pre-implantation diagnostic (PGD), as well as the conversion of somatic cells, such as skin fibroblasts, into induced pluripotent stem cells by genetic manipulation, offer the unique opportunity to have access to a large spectrum of disease - specific cell models.

Congratulations to Umrao Monani, Assistant Professor at the Motor Neuron Center of Columbia University and Cathleen Lutz, Associate Director of Genetic Research Science at The Jackson Laboratory, and their colleagues for their new publication «Postsymptomatic Restoration of SMN Rescues the Disease Phenotype in a Mouse Model of Severe Spinal Muscular Atrophy» in the Journal of -LSB-...]

Since genetic loss of aP2 in mouse models and in humans results in lowered risk of cardiometabolic disease, the molecule offers an exciting opportunity for new intervention strategies.

Other humanized mice have no spontaneous phenotype and can be combined with either genetic spontaneous or inducible models of chronic inflammatory diseases yielding preclinical efficacy evaluation platforms for Rheumatoid Arthritis, Intestinal Inflammation, Psoriasis and Multiple Sclerosis.

The resulting data are being combined in a systems biology approach with high - resolution clinical phenotyping and findings obtained with a large array of established and novel in vitro, ex vivo and in vivo disease models to identify disease - associated genetic variants, disease - defining molecular signatures, and potential targets for therapeutic intervention.

The lab will study mouse models of inherited RPE - driven disease, collecting and analyzing extensive genetic and physiological data throughout disease progression.

The genetic traits of fruit flies make them living models for exploring behavioral, development, genetic and metabolic conditions and diseases in humans.

The hTNFR1KI mice have normal phenotype and can be used in combination to other genetic models (e.g. Tg197hTNFR1KI) or with a variety of induced disease models in order to test the efficacy of anti-human TNFR1 therapeutics.

Dr. Tarazi studies the behavioral, genetic, molecular, and cellular mechanisms that mediate the actions of dissimilar psychotropic drugs by using animal models that mimic the core symptoms of different neuropsychiatric diseases.

We have learned a fair amount from the neurologic genetic diseases, but we and others also studied these cells in the laboratory as well as in animal models of brain injury.

His uses genome engineering methods to test the role of specific genetic changes in induced pluripotent cell (iPSC)- derived models of disease.

Furthermore, new genome - editing technologies such as CRISPR / Cas9 now enable the efficient derivation of precision disease models incorporating patient - specific genetic variants as a means of recapitulating essential aspects of human disease in mouse and other model organisms.

Investigators in the CRGGH will develop genetic epidemiology models that will explore the patterns and determinants of common complex diseases in populations in the United States and other human populations around the world.

His lab develops isogenic human pluripotent stem cells and transgenic animals to model disease, with the goal of delineating novel approaches to influence outcomes for Huntington disease (HD) and Fragile X Syndrome (FXS), the most common genetic causes of dementia and intellectual disability, respectively.

We tested R6 / 2 transgenic mice, a widely used genetic model of Huntington's disease (Mangiarini et al., 1996), in two studies designed to evaluate progression of the disease phenotype with age.

Because of the ease with which the CRISPR / Cas9 system can be applied, it has quickly become a robust tool for generating accurate genetic disease models in the laboratory and for identifying novel therapeutic targets in the clinic.

Using stem cells, the scientists created models of the disease in a dish that displayed different genetic scenarios, identifying individual and shared defects that could inform treatment efforts.

Using genetic and epigenetic analyses coupled with powerful perturbation technologies to test gene functions in human cells and mouse models, we hope to identify the critical drivers of this disease and the basis for therapeutic responses.

The phenotyping department of PHENOMIN - ICS is advancing a technical platform for functional characterization of preclinical models of human diseases with respect to both genetic understanding of pathophysiological mechanisms and the assessment of drug therapies.

For such study, we have used the McGill - R - Thy1 - APP transgenic rat, which is unique compared to other rodent models in that the AD - like phenotype has been achieved with a single genomic insertion of a mutated human APP transgene; minimizing off - target genetic corruption and therefore being closer to the human disease [32].