After creating a stem
cell model of the disease from patients» skin cells, the Scripps Research scientists found strong evidence for the involvement of a DNA repair enzyme in the FXN triplet repeat expansion.
Not exact matches
He conducted his postdoctoral research at Brigham and Women's Hospital / Harvard Medical School, where he researched the role
of the Wnt signaling pathway in mouse
models of kidney
disease, and was part
of a team that discovered a stem
cell subtype responsible for solid organ fibrosis.
«In theory, we could
model progression
of the
disease by reprogramming skin
cells from patients at a range
of ages, including before symptoms begin.
To develop their «
disease in a dish»
model, the team took skin
cells from patients with Allan - Herndon - Dudley syndrome and reprogrammed them into induced pluripotent stem
cells, which then can be developed into any type
of tissue in the body.
In the present study, the researchers have discovered a reason for reduced fertility in people with autoimmune polyendocrine syndrome type 1 (APS1), which increases the risk
of developing autoimmune
disease (caused by the immune system attacking and damaging healthy
cells) and which is often used as a
model for autoimmune
disease in general.
«Chronic inflammation
of the intestine is thought to be caused by abnormal interactions between gut microbes, intestinal epithelial
cells and the immune system, but so far it has been impossible to determine how each
of these factors contribute to the development
of intestinal bowel
disease,» said Hyun Jung Kim, Ph.D., former Wyss Technology Development Fellow and first author on the study, speaking about the limitations
of conventional in vitro and animal
models of bacterial overgrowth and inflammation
of the intestines.
Currently, I work on three directions: (1)
cell motility and the cytoskeleton, (2)
modeling of physiology and
diseases (such as autoimmune diabetes), and (3) swarming and aggregation behaviour in social organisms.
«This research has broad impact, because by deepening our understanding
of cell reprogramming we have the potential to improve
disease modeling and the generation
of better sources
of patient - specific specialized
cells suitable for replacement therapy,» said Plath.
In preclinical studies using
cell models that mimicked liver
cells of patients with the rare
disease Friedreich's ataxia (FA), a widely used cholesterol - lowering drug increased a precursor
of HDL (high - density lipoprotein), the «good cholesterol,» according to new research published in PLOS ONE from the Perelman School
of Medicine at the University
of Pennsylvania.
With our human gut - on - a-chip, we can not only culture the normal gut microbiome for extended times, but we can also analyze contributions
of pathogens, immune
cells, and vascular and lymphatic endothelium, as well as
model specific
diseases to understand complex pathophysiological responses
of the intestinal tract.»
Guo and his collaborators continue their studies by establishing additional mouse
models of leukemia that have been transplanted with patient
cells of relapsed and refractory
disease.
This proof -
of - principle study shows «for the first time... that human iPS
cells can be used to
model a diverse range
of inherited
diseases in adult
cells,» the authors wrote in their paper, published online in The Journal
of Clinical Investigation August 25.
A new study has found that stem
cell therapy can reduce lung inflammation in an animal
model of chronic obstructive pulmonary
disease (COPD) and cystic fibrosis.
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.
Specifically, the Mount Sinai study was designed to test whether pharmacological compounds designed to block the function
of XPO1 / CRM1 could stop
disease progression in mouse
models that exhibit some
of the characteristics
of MS. Researchers found that two chemical agents (called KPT - 276 and KPT - 350) prevented XPO1 / CRM1 from shuttling cargo out
of the nucleus
of nerve
cells, which protected them from free radicals and structural damage.
The study involved laboratory
cell lines
of human leukemia and mouse
models of the
disease.
Realistic stem
cell therapies to replace
diseased or damaged tissue may still be years away, but researchers have uncovered a promising new use for these undifferentiated
cells: they can be programmed to become patient - specific laboratory
models of inherited liver
disease.
The UT Southwestern group had previously used CRISPR - Cas9, the original gene - editing system, to correct the Duchenne defect in a mouse
model of the
disease and in human
cells.
The study successfully countered harmful effects
of mutant huntingtin and protected nerve
cells in several
models of Huntington's
disease.
The scientists then tested three new mTOR inhibitors currently under development (pp242, AZD8055 and INK128) in combination with the chemotherapies AraC, Etoposide and Cisplatin to see how they affected laboratory lines
of leukemia
cells and mouse
models of the
disease.
«The compounds identified in this study, when administered orally, both reduced the inflammation that is a hallmark
of multiple sclerosis and protected against the nerve
cell damage seen in mouse
models of the
disease,» said Jeffery Haines, PhD, a post-doctoral fellow at Mount Sinai and the study's lead author.
These techniques include: human tissue created by reprogramming
cells from people with the relevant
disease (dubbed «patient in a dish»); «body on a chip» devices, where human tissue samples on a silicon chip are linked by a circulating blood substitute; many computer
modelling approaches, such as virtual organs, virtual patients and virtual clinical trials; and microdosing studies, where tiny doses
of drugs given to volunteers allow scientists to study their metabolism in humans, safely and with unsurpassed accuracy.
Using animal
models of precancerous polyps in the bowel, Chung and his team determined that certain types
of immune
cells within a chronically inflamed intestine can become rewired, causing them — paradoxically — to contribute to
disease development rather than protect against it.
«The study
of this type
of tumours has been problematic up to now due to the lack
of cell models and the appropriate animal
models,» says CNIC researcher Juan Carlos Ramírez, who adds that the difficulty
of generating these chromosomal translocations had limited the availability
of cells with this mark
of the
disease.
In the study, exosomes, which are generated by all
cells and are naturally present in blood, were modified as «iExosomes,» capable
of delivering small RNA to specifically target mutant KRAS, resulting in
disease suppression and increased overall survival in mouse
models.
Researchers at University
of California San Diego School
of Medicine report that a single infusion
of wildtype hematopoietic stem and progenitor
cells (HSPCs) into a mouse
model of Friedreich's ataxia (FA) measurably halted cellular damage caused by the degenerative
disease.
Most importantly, these
cells protected mice from developing diabetes in a
model of disease, having the critical ability to produce insulin in response to changes in glucose levels.
Next, the research team will examine specifically whether these liver
cells obtained from human embryonic stem
cells in a dish help repair injured livers in preclinical animal
models of liver
disease.
Still, he says, other groups have arrived at opposing results regarding the role
of T
cells in the
disease, in part, perhaps, because their animal
models aren't the same.
Now, a team
of scientists at the Icahn School
of Medicine at Mount Sinai have developed the Just EGFP Death - Inducing T -
cell, or JEDI T -
cells, which enable the visualization
of T -
cell antigens, allowing researchers to study T -
cell interactions with different
cell types,
model disease states, and finally determine the functions
of otherwise poorly characterized
cell populations.
This is particularly important as it indicates the method can be used in a variety
of cell types to create
disease models and contribute to the discovery
of new
disease - specific therapeutics.
This was observed in human ovarian cancer
cells grown in culture, and then in mouse
models of the
disease.
Desgrosellier said the team will follow up with mouse
models containing tumor fragments from patients to better reflect the diversity
of cell types present in human
disease.
More work is needed to determine whether the findings on rapamycin hold true in animal
models of Leigh syndrome and other neurodegenerative
diseases, and to ascertain how exactly rapamycin is altering the metabolism
of the
cells.
Dr Leonardo Guasti added: «It represents an entirely new concept for the study
of the adrenal gland as the ability to generate donor - specific and functional adrenal - like
cells will facilitate the next generation
of cell - based treatments for adrenal insufficiency, the
modelling of adrenal specific
diseases, and the testing
of personalised interventions on
cells derived from patients.»
The human
cell - based
disease model is expected to lead to a better understanding
of these disorders and other illnesses, Hsiao said.
In Remodeling
of the Mononuclear Phagocyte Network Underlies Chronic Inflammation and
Disease Progression in Heart Failure: Critical Importance
of the Cardiosplenic Axis, Prabhu and colleagues showed that immune
cells that are stored in the spleen were intricately involved in the heart failure that follows a heart attack, or infarction, in a mouse -
model system.
Kühn has just recently joined the MDC and is head
of the research group for «iPS
cell based
disease modeling.»
«
Cell model of the brain provides new knowledge on developmental
disease.»
Using a yeast
model of Parkinson's
disease, Lee and his team discovered two
of the compounds prevented the AS protein from clumping, effectively allowing the
cells to grow normally.
«We compared the ability
of RSV and parainfluenza virus (PIV3)-- another common virus in children that causes much less severe airway
disease — to infect and cause inflammatory responses in a
cell culture
model of human epithelial
cells, which compose the lining
of the lung airway.
His laboratory already has shown that by inhibiting calcium channels in T -
cells, they were able to prevent T -
cell activation in animal
models of autoimmune
diseases like multiple sclerosis and colitis.
Using a combination
of cell - based and mouse
models, the researchers showed that the recently - evolved mycobacteria were more virulent, likely to cause more serious
disease in patients.
«Alzheimer's in a dish: Stem
cells from patients offer
model and drug - discovery platform for early onset form
of disease.»
Eggan has also been itching to use cloning technology to create embryonic stem
cells that could be used to
model the development
of various
diseases, especially diabetes and ALS.
«The next stage would be to repeat the study in primates, a more suitable animal
model where HIV infection induces
disease, in order to further demonstrate elimination
of HIV - 1 DNA in latently infected T
cells and other sanctuary sites for HIV - 1, including brain
cells,» Dr. Khalili said.
Reprogramming
of adult somatic
cells into induced pluripotent stem
cells (iPSCs) provides a powerful tool for in vitro
disease modeling and drug screening.
Reported today in
Disease Models & Mechanisms, Karim Si - Tayeb and colleagues in the research group of Bertrand Cariou from l'Institut du Thorax, Nantes used an innovative approach to develop unique patient cell - based models of PCSK9 - driven hypercholestero
Models & Mechanisms, Karim Si - Tayeb and colleagues in the research group
of Bertrand Cariou from l'Institut du Thorax, Nantes used an innovative approach to develop unique patient
cell - based
models of PCSK9 - driven hypercholestero
models of PCSK9 - driven hypercholesterolemia.
Mouse embryonic stem
cells, reported in 1981 by Martin Evans, Matthew Kaufman, and Gail Martin, have allowed scientists to generate genetically customized strains
of mice that have revolutionized studies
of organismic development and immunity and have provided countless
models of human
disease.
«Use
of induced pluripotent stem
cell (iPSC) technology» — which involves taking skin
cells from patients and reprogramming them into embryonic - like stem
cells capable
of turning into other specific
cell types relevant for studying a particular
disease — «makes it possible to
model dementias that affect people later in life,» says senior study author Catherine Verfaillie
of KU Leuven.