| Cystic fibrosis (41) |  |
| Down syndrome (35) | |
| Genetic disease (68) | |
| Muscular dystrophy (42) | |
| Thalassemia (5) | |
| Cystic fibrosis (41) | |
| Down syndrome (35) | |
| Genetic disease (68) | |
| Muscular dystrophy (42) | |
| Thalassemia (5) | |
#EPICENTROMERE#Unlocking the secrets of cell behaviour Understanding how our cells behave strengthens our ability to tackle genetic diseases and cancer.
The technology could also be applied to medicine, for example, to continuously monitor diabetics or cystic fibrosis sufferers.
They are affected the primary cells in Huntington s disease an inherited genetic disorder that causes involuntary muscle movements and cognitive decline usually beginning in middle-adulthood.
Next they tested the idea in a mouse model of the bone infection osteomyelitis. Antibiotic-resistant small colony variant S. aureus is the cause of chronic and difficult to treat osteomyelitis and also of lung infections in patients with cystic fibrosis (CF.
The microbiome of a cystic fibrosis patient s lungs can provide nutrients to these small colony variants
Makova says. veryone is concerned about Down syndrome because that is a common genetic problem. We have added now another set of genetic disorders that also might be affected by the age of the mother.
It is good for couples to have this knowledge as they make family-planning decisions. The research appears in the early online edition of the Proceedings of the National Academy of Sciences.
and 11 as having other##global delay##conditions such as suspected intellectual disabilities Down syndrome or other disorders.
#X-rays show live changes in cystic fibrosis New X-ray technology is allowing doctors to see almost instantly
if treatments for cystic fibrosis are working. Cystic fibrosis affects many of the body s systems but most severely the lungs and currently it can take several months to measure how effective treatment is for the early-fatal lung disease.
Lead researcher Kaye Morgan from Monash University says the imaging method allows doctors to look at soft tissue structures for example the brain airways
At the moment we typically need to wait for a cystic fibrosis treatment to have an effect on lung health measured by either a lung CT SCAN
and help better treat people with cystic fibrosis Morgan says. The new imaging method which was developed using a synchrotron x-ray source may also open up possibilities in assessing how effective treatments were for other lung heart and brain diseases.
Newfoundlandshose massive, furry, black dogsre all too often afflicted with a potentially lethal congenital disease called subvalvular aortic stenosis,
The discovery of a certain genotype might indicate the potential for a genetic disease and suggest that diagnostic testing be done.
#X-rays show live changes in cystic fibrosis New X-ray technology is allowing doctors to see almost instantly
if treatments for cystic fibrosis are working. Cystic fibrosis affects many of the body s systems but most severely the lungs and currently it can take several months to measure how effective treatment is for the early-fatal lung disease.
Lead researcher Kaye Morgan from Monash University says the imaging method allows doctors to look at soft tissue structures for example the brain airways
At the moment we typically need to wait for a cystic fibrosis treatment to have an effect on lung health measured by either a lung CT SCAN
and help better treat people with cystic fibrosis Morgan says. The new imaging method which was developed using a synchrotron x-ray source may also open up possibilities in assessing how effective treatments were for other lung heart and brain diseases.
Instead of the abnormalities marking a new species the bones more likely indicate Down syndrome researchers say.
and according to the researchers contains important features most consistent with a diagnosis of Down syndrome. he skeletal sample from Liang Bua cave contains fragmentary remains of several individualseckhardt says.
and the revised figure falls in the range predicted for a modern human with Down syndrome from the same geographic regioneckhardt says.
But humans with Down syndrome also have diagnostically short thighbones Eckhardt says. Though these and other features are acknowledged unusual he nusual does not equal unique.
Down syndrome one of the most commonly occurring developmental disorders in modern humans. hen we first saw these bones several of us immediately spotted a developmental disturbancesays Eckhardt ut we did not assign a specific diagnosis
Over the years several lines of evidence have converged on Down syndrome. he first indicator is craniofacial asymmetry a left-right mismatch of the skull that is characteristic of this and other disorders.
Here too the brain size they estimate is within the range expected for an Australomelanesian human with Down syndrome.
LB1 s short thighbones not only match the height reduction seen in Down syndrome Eckhardt says but when corrected statistically for normal growth they would yield a stature of about 1. 26 meters
Aneuploidy is well known to be deleterious in humans causing genetic disorders like Down s syndrome or trisomy 21. But having an extra chromosome can actually be beneficial in microbes like Cryptococcus where it has been shown to confer drug resistance to the antifungal fluconazole.
In rare congenital disease, in cancer and in infections, genomic insights are already transforming diagnosis and treatment.
#Gene-analysis firms reach for the cloud For Chaim Jalas at the Center for Rare Jewish Genetic disorders in New york,
Bursac group is also trying to grow contracting human muscles using induced pluripotent stem cells instead of biopsied cells. here are a some diseases, like Duchenne Muscular dystrophy for example,
#Genetic Brain disorders Converge at the Synapse Several genetic disorders cause intellectual disability and autism. Historically, these genetic brain diseases were viewed as untreatable.
They#ve also known that chromosome 21 plays a role in the disease due to Alzheimer s-like symptoms in people with Down syndrome (with three copies of chromosome 21.
and replace it with the correct sequence holds potential for treating many genetic disorders according to the research team.
Nevertheless this work is an exciting first step to using modern gene-editing tools to correct the devastating genetic diseases for
an inherited genetic disorder, have a variant form of hemoglobin that causes their red blood cells to take on a characteristic sickle shape when in low-oxygen conditions.
2015 SHARE Several genetic disorders cause intellectual disability and autism. Historically, these genetic brain diseases were viewed as untreatable.
disposable breath analysis device that a person with cystic fibrosis could use at home along with a smartphone to immediately detect a lung infection,
and genetic diseases by combining the chemical specificity of the DNA with the signal readout of the metal.
and are validating assay kits for several other applications in pathogen detection pharmacogenomics and genetic disease screening.
Many degenerative diseases such as Alzheimer's Parkinson's cystic fibrosis and muscular dystrophy are believed to originate from damage to the cell membrane.
#Drug Cures Mice Of Down syndrome With A Single Dose Cure Down syndrome with a single injection?
A team of scientists from John Hopkins University and the National institutes of health have cured newborn mice of Down syndrome by injecting them with a drug that stimulates
People with Down syndrome usually have smaller brain volumes than control groups including significantly smaller cerebellums a portion of the brain involved in motor control.
The researchers led by Roger Reeves of the John Hopkins University School of medicine treated newborn mice that had been engineered genetically to have Down syndrome-like characteristics with a small molecule called SAG.
Down syndrome is very complex and nobody thinks there's going to be a silver bullet that normalizes cognition Reeves said in a statement.
Down syndrome creates a great many genetic expressions to the individual. some dont get all that are possible. most likely any physiological characteristics would be largely permanent after birth.
genetic disorders are the leading cause of death. But pediatricians typically can scan an infant entire genome
But with more than 8000 possible genetic diseases, such tests eren really relevant to clinical care, he tells IEEE Spectrum.
and diagnosed a genetic disease in 20 of those babies. In 13 cases, the doctors dramatically changed their treatment plans.
For example, a baby with liver failure received the proper surgeries and pharmaceutical treatments based on the accurate diagnosis of a rare genetic disorder,
They wanted to edit the gene responsible for B-thalassemia, a fatal blood disorder. CRISPR (pronounced like`crisper')has swept through the scientific world in the last few years
HGPS is an extremely rare genetic disease which causes patients to start aging rapidly when they are around one year old.
or debilitating lung conditions including cancer, tuberculosis, asthma and cystic fibrosis. But the Respitetm nebulizer also has the potential to be used to administer insulin to people with diabetes
#Breakthrough in rare disease that causes growth of second skeleton Scientists have developed a potential antibody treatment for the rare genetic disease fibrodysplasia ossificans progressiva (FOP), in
a finding that may have important implications for children with Down syndrome who have a higher risk of developing the blood cancer.
Patients with Down syndrome have three copies of chromosome 21 in their cells. Theye also 20 times more likely to contract childhood B-cell acute lymphoblastic leukemia than the general population,
children with Down syndrome have more DYRK1A than usual. his finding is exciting to us because human B-cell acute lymphoblastic leukemia cases show increased levels of DYRK1A, said Crispino. he results suggest that DYRK1A may be a novel target for therapy in this form of leukemia.
Drug delivery and beyond The power of nanoparticles is also being harnessed to fight life-threatening lung diseases, such as cystic fibrosis.
As in cystic fibrosis, a current delivery method of gene therapy relies on using a virus, which can pose significant safety risks.
#Down syndrome Research Untangles Therapeutic Possibilities for Alzheimer More than five million Americans are living with Alzheimer disease (AD.
Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid.
In fact, patients with Down syndrome develop the abnormal protein at twice the rate. Results of a pilot study, published in the September issue of Frontiers in Behavioral neuroscience, confirms the pathogenic role of beta amyloid in dementia as seen in both AD
and Down syndrome. eople with Down syndrome represent the world largest population of predetermined Alzheimer disease. By studying these individuals,
called The down Syndrome Biomarker Initiative (DSBI), involved twelve participants between the ages of 30 and 60 with Down syndrome,
and retinal amyloid imaging. his study shows some of the earliest known Alzheimer disease biomarker changes in adults with Down syndrome
and underscores the need for additional studies, said Rafii. his study will set the stage for the first clinical trial of anti-beta amyloid therapy in the preclinical treatment of Alzheimer disease in adults with Down syndrome.
including Down syndrome. People with Down syndrome have an extra copy of the 21st chromosome where the production gene for the beta amyloid protein resides.
The ADCS was founded by the late Leon Thal M d.,a world leader in Alzheimer research, to promote the discovery, development and testing of new drugs for the treatment of AD.
#RNA Editing Technique Treats Severe Form of Muscular dystrophy An RNA editing technique called xon skippinghas shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment
--whose two sons were diagnosed with a rare and severe form of muscular dystrophy and his search for and partnership with the genetic scientist--Dr. Elizabeth Mcnally--who studies the disease.
The rare form of the disease is Limb Girdle Muscular dystrophy Type 2c. Mcnally is director of the Center for Genetic Medicine at Northwestern University Feinberg School of medicine and the former director of the Institute of Cardiovascular Research at UCHICAGO,
which supports Limb Girdle Muscular dystrophy 2c research and is being developed with the goal of clinical trials and eventual commercial treatments.
The boysfamily and friends started the foundation in 2010 to apply promising research to Limb Girdle Muscular dystrophy Type 2c.
Originally developed to treat Duchenne Muscular dystrophy another form of muscle disease, exon skipping coaxes cells to kipover abnormal sections of the genetic code,
Limb Girdle Muscular dystrophy is caused by mutations in any of at least 15 different genes and affects 1 in 14,
Individuals with Limb Girdle Muscular dystrophy Type 2c have detrimental mutations in a key protein, gamma sarcoglycan,
The boysfamily and friends started the Kurt+Peter Foundation in 2010 to apply promising research to Limb Girdle Muscular dystrophy Type 2c.
In 2010, Frewing, president of the Kurt+Peter Foundation, began proactively looking for scientists researching Limb Girdle Muscular dystrophy Type 2c and similar forms of muscular dystrophy,
Northwestern University and The Kurt+Peter Foundation will support the development of therapies for Limb Girdle Muscular dystrophy Type 2c.
The Foundation will continue to partner with Mcnally to further test exon skipping in Limb Girdle Muscular dystrophy Type 2c
AGS is a rare genetic disorder that mainly affects the brain, while SLE can affect the skin, joints, kidneys, brain,
they chose the most complex one known, Down syndrome cell adhesion molecule 1 (Dscam1), which controls the wiring of the brain in fruit flies.
This discovery could provide new clues about genetic diseases and allow researchers to reprogram cells by directly modifying the loops in genomes.
whose studies have focused on disease mechanisms in mouse neuro-genetic disorders, including disorders of the retina,
a chronic genetic disorder characterized by the buildup of white blood cells in the organs. Patients with ALPS and other autoimmune disorders often have immune systems that destroy their body's own healthy blood cells.
#Manipulating cell signaling for better muscle function in muscular dystrophy Every heart beat and step in our daily lives is dependent on the integrity of muscles
Their study published online ahead of print in PNAS Early Edition suggests a new therapeutic strategy for patients with Duchene muscular dystrophy
and the impaired nnos function that is seen in muscular dystrophy, "says Michele, senior study author and professor of molecular & integrative physiology and internal medicine at the University of Michigan."
the nnos activity that is reduced in muscular dystrophy was restored. The drug worked by bypassing the defective steps in the protein complex pathway,
Still the study is"an important first step to show that manipulating AMPK-nnos signaling at least has the potential to help muscle function in muscular dystrophy"
Their work was supported by funding from the Muscular dystrophy Association and the National institutes of health, along with funding from the U-M Cardiovascular Translational Research and Entrepreneurship training program.
Drugs tested by the U-M appear to correct the signaling pathway that is disrupted in muscular dystrophy at an earlier step than the phosphodiesterase inhibitors s
as they are associated with and array of genetic disease states.""It's a lot like autism, in that many different CNVS affecting different genes are involved
as they are associated with and array of genetic disease states.""It's a lot like autism, in that many different CNVS affecting different genes are involved
Origins Of Genetic disease Gene mutations are present in all the cells in the body and can be examined by taking a blood sample.
The technology may have significant implication for patients with COPD, cystic fibrosis, and other conditions affecting the lungs by offering the ability for gene therapy to be delivered directly into pulmonary tissue through inhalation.
#Engineering a permanent solution to genetic diseases (Nanowerk News) In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon.
Its a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering.
Were moving towards a very logical type of treatment for genetic diseases, where we can actually say,
In theory, genome engineering will eventually allow us to permanently cure genetic diseases by editing the specific faulty gene (s). Revolutionizing health care Genome engineering involves the targeted
sickle cell anemia, muscular dystrophy and cystic fibrosis. While the field is still in its relative infancy, Hubbard says human clinical trials involving sequence-specific DNA-editing agents are already underway.
They attempted to delete a gene for a blood disorder called beta thalassemia from the DNA of 86 nonviable embryos.
and after Chinese researchers reported they had employed indeed successfully the CRISPR/Cas9 system on nonviable human embryos to remove a part of the gene that causes a genetic blood condition called beta thalassemia.
This discovery could provide new clues about genetic diseases and allow researchers to reprogram cells by directly modifying the loops in genomes.
and brain tumours, plus a number of congenital diseases that affect a person growth.""Our findings bring us one step closer to understanding the chemistry of how PRC2 functions in normal cells
or the risk for genetic disease and it could provide a new avenue for gene therapies and guiding stem cell differentiation.
"Some genetic diseases are straightforward --if you have a mutation within a particular gene, then you have said the disease
In still another case, TGEN testing identified the genetic culprit of the child's muscle weakness as a pathogenic EMD variant associated with Emery-Dreifuss muscular dystrophy.
These are skills that we implement for other international trials of gene therapy for rare genetic diseases of the immune system
indicates that it is from now on justifiable to hope to treat other complex genetic diseases as those affecting red blood cells."
"This is a very powerful example of how gene therapy can offer highly effective treatment for patients with complex and serious genetic disease.
and Meningococcus as well as bacteria that cause infections in cystic fibrosis and burns patients. It has been found in many of the major so-called'Gram negative bacteria,
#Engineering a permanent solution to genetic diseases In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon.
It's a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering.
Thanks to his latest work, Hubbard is bringing that future closer to reality. Hubbard's research, published in the journal Nature Methods, demonstrates a new technology advancing the field of genome engineering.
"We're moving towards a very logical type of treatment for genetic diseases, where we can actually say,
'"In theory, genome engineering will eventually allow us to permanently cure genetic diseases by editing the specific faulty gene (s)."Genome engineering involves the targeted, specific modification of an organism's genetic information.
Examples include diseases such as hemophilia, sickle cell anemia, muscular dystrophy and cystic fibrosis. While the field is still in its relative infancy,
This approach--surveying a small subgroup of relevant genes instead of the whole genome--is used already to test for other diseases, such as cystic fibrosis.
But cystic fibrosis involves only one gene albeit with hundreds of variants.""By comparison, the heart diseases are more challenging just
a rare genetic disorder affecting a region of the brain involved in motor control and which leads to difficulty in coordinating complex movements,
a rare genetic disorder affecting a region of the brain involved in motor control and which leads to difficulty in coordinating complex movements,
#Study finds cystic fibrosis decreases muscle strength Patients with cystic fibrosis have a muscle deficiency that gets worse with age, according to the findings of a joint study by researchers at the University of Georgia and Georgia Regents University.
and results showed cystic fibrosis patients had 15 percent less capacity than the control group -and that capacity grew worse with age.
Cystic fibrosis is a genetic disease that primarily affects the lungs and digestive system of about 30,000 Americans, producing mucus that makes it difficult to breathe
The average life span of a patient with cystic fibrosis is less than 40 years. By including children in the study,
points to this decrease of muscle strength as one reason why cystic fibrosis patients are less likely to exercise as they get older,
said the excessive muscle weakness that is common in cystic fibrosis patients now can be attributed to some degree to defects in muscle mitochondria.
Mccully and other UGA researchers will continue to work with Georgia Regents University to determine what is keeping cystic fibrosis patients#muscles from properly functioning,
noting the shortened life span of cystic fibrosis patients.##We#re interested in optimizing that life,
or the risk for genetic disease and it could provide a new avenue for gene therapies and guiding stem cell differentiation. he epigenome is associated everything with the genome other than the actual genetic sequence,
But the real excitement from their results is an emerging ability to probe millions of potential enhancers in a way never before possible. ome genetic diseases are straightforwardf you have a mutation within a particular gene,
that therapeutic genes may one day be delivered directly to the lungs to the levels sufficient to treat cystic fibrosis (CF), chronic obstructive pulmonary disease,
and are capable of rapidly penetrating human airway mucus freshly collected from patients visiting the Johns Hopkins Adult Cystic fibrosis Program directed by Michael Boyle,
#Important regulation of cell invaginations discovered Lack of microinvaginations in the cell membrane, caveolae, can cause serious diseases such as lipodystrophy and muscular dystrophy.
A total absence of invaginations causes lipodystrophy and muscular dystrophy combined with fatal cardiac arrhythmia. he latter is an unpleasant disease
#Engineering a permanent solution to genetic diseases In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon.
It a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering.
says Hubbard, an assistant professor of pharmacology in the University of Alberta Faculty of medicine & Dentistry. ee moving towards a very logical type of treatment for genetic diseases,
In theory, genome engineering will eventually allow us to permanently cure genetic diseases by editing the specific faulty genes. evolutionizing health caregenome engineering involves the targeted, specific modification of an organism genetic information.
sickle-cell anemia, muscular dystrophy and cystic fibrosis. Though the field is still in its relative infancy, Hubbard says human clinical trials involving sequence-specific DNA-editing agents are already underway.
#Modeling genetic diseases in mini-kidney organoids Harvard Stem Cell Institute researchers at Brigham and Women Hospital have combined cutting-edge,
researchers can engineer these mini-kidneys with specific genetic diseases. Using CRISPR technology, Bonventre and colleagues introduced into healthy human pluripotent stem cells either the gene mutations associated with polycystic kidney disease
Everyone is concerned about Down syndrome because that is a common genetic problem. We have added now another set of genetic disorders that also might be affected by the age of the mother.
It is good for couples to have this knowledge as they make family-planning decisions. Story Source:
Prolonged elevated levels of cortisol in the body can lead to obesity muscular dystrophy depression and other symptoms.
and genetic diseases by combining the chemical specificity of the DNA with the signal readout of the metal.
#Multiple neurodevelopmental disorders have a common molecular cause Neurodevelopmental disorders such as Down syndrome and autism-spectrum disorder can have profound lifelong effects on learning
from patients with prostate cancer or benign prostate hypoplasia, and normal healthy individuals. In each case, the lncrnas were elevated in prostate cancer patient samples,
but not in patients with benign prostate hypoplasia or normal healthy individuals. One advantage of lncrnas is that the molecules can be detected in urine samples,
or vosoritide, is aimed at treating achondroplasia, the most common form of dwarfism. The company says there may be 24
Women with achondroplasia typically grow to about four feet tall, and men a few inches taller.
But about 80%of children with achondroplasia are born to parents of normal stature, and many parents want treatments for their children.
and thalassemia who require treatment with regular transfusions and for whom it is difficult to find compatible donors.
This discovery gives a new understanding to genetic diseases that are caused by mutations in these proteins.
This extremely rare genetic disorder causes children to gradually lose the ability to balance themselves, move their muscles
it is very rewarding to finally see these approaches being tested for some of the unmet clinical needs caused by these terminal genetic disorders,
Two patients with beta-thalassemia, a genetic disorder which normally requires regular blood transfusions, have been able to forgo transfusions for at least five months following a gene therapy treatment from bluebird.
"There are a some diseases, like Duchenne Muscular dystrophy for example, that make taking muscle biopsies difficult. If we could grow working, testable muscles from induced pluripotent stem cells,
"##Guo focuses much of his work on the use of ribonucleic acid (RNA) nanoparticles and a viral nanomotor to fight cancer, viral infections and genetic diseases.
which could help patients suffering from muscular dystrophy, amyotrophic lateral sclerosis (ALS), incomplete spinal cord injury, or other hand impairments to regain some daily independence and control of their environment.
"For patients suffering from muscular dystrophy, amyotrophic lateral sclerosis (ALS), and incomplete spinal cord injury, the soft robotic glove could allow them to regain some of their daily independence through robotic gloveassisted hand functions.
viral infections and genetic diseases. He is well-known for his pioneering work of constructing RNA nanoparticles as drug carriers u
This means that when we want to stimulate genes to work harder to fight a genetic disease
It can wreak havoc in hospital wards, in the lungs of those with cystic fibrosis, and in the guts of premature babies.
Viruses there contaminated a plant where bacteria were used to make drugs for two rare genetic disorders, Gaucher disease and Fabry disease, cutting off supplies.
and is already in use in human gene therapy trials for blindness, heart disease, muscular dystrophy and other conditions.
#Insights into a rare genetic disease Recently a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene.
In a big step towards understanding the effects of this mutation research by scientists at the RIKEN-Max Planck Joint Research center in Japan implicates the enzyme ENGASE as the factor responsible for deficient protein degradation that occurs in the absence
and rare genetic diseases. The researchers determined that an enzyme called Protein kinase c (PKC) can regulate whether more or less glucose should be transported into cells,
The researchers further found that the regulation of GLUT1 by PKC was impaired in some patients with a genetic disease called GLUT1 Deficiency Syndrome (G1d.
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