the team found that disease-linked mutations disrupt specific sets of genes contributing to excitatory and inhibitory signalling, the balance
what we hope is a pretty sizeable piece of the jigsaw puzzle that will help us develop a coherent model of the disease,
while helping us to rule out some of the alternatives. reliable model of disease is needed urgently to direct future efforts in
The disease-causing effects of CNVS are suspected also to be involved in other neurodevelopmental disorders such as intellectual disability, Autism Spectrum Disorder and ADHD.
#Deficiency of Specific Protein in Brain Blood vessels Increases Risk for Alzheimer Disease New study finds that PICALM protein regulates removal of toxic plaques from brain.
which could be a potential therapeutic target for the treatment of Alzheimer disease. In a study that appeared in a recent edition of Nature Neuroscience,
which is known a genetic risk factor for Alzheimer disease. Alzheimer is the most common type of dementia
disable amyloid-beta from being cleared out of the brain across a region known as the blood-brain barrier. here have been many new genes discovered to be associated with Alzheimer disease,
director of the Zilkha Neurogenetic Institute and holder of the Mary Hayley and Selim Zilkha chair for Alzheimer Disease research at the Keck School of medicine. ur new study shows that a deficiency in PICALM in blood vessels
and its variants associated with increased risk for the disease inactivate amyloid-beta clearance from the brain,
and brings to light novel potential therapeutic targets for increasing amyloid-beta clearance in Alzheimer disease.
Autopsies from Alzheimer patients and recent research in experimental models have shown the importance of brain blood vessels in the disease initiation and progression.
Zlokovic and his research team have studied the cellular and molecular mechanisms of brain blood vessels that maintain normal cognition with hopes of developing new treatments for Alzheimer and other neurodegenerative diseases.
and using transgenic animals to model the disease, the group found that low levels of PICALM in brain endothelial cells lead to amyloid-beta accumulation in the brain.
Genetic variants associated with the PICALM gene have been shown to increase the risk of Alzheimer disease.
could ultimately help researchers develop new approaches to preventing cognitive decline in disorders such as Alzheimer disease.
In previous research into Alzheimer disease in mice, the researchers found that even in the presymptomatic phase of the disorder,
he says. anticipate that this advance will have broad implications ranging from the basic biology of transcription to pathological mechanisms involved in diseases such as Alzheimer disease
However, data analysis of human diseases suggests that such genes are associated with conditions such as schizophrenia, metabolic disorders and obesity.
and epigenetic reprogramming that subsequently impacts human development and disease. Unique Gene Regulatory Network Resets the Human Germline Epigenome for Developmentby Walfred W c. Tang
In many central nervous system diseases, the dendritic spine density is altered. nderstanding of the molecular mechanisms underlying the initiation process of dendritic spines enables us to manipulate their initiation rate and density.
#Injectable Device Delivers a Nano-View of the Brain Promise against disease in electronic scaffolds.
also known as Lou Gehrig disease, has been discovered by scientists at the CHUM Research Centre and the University of Montreal.
or at least slow the progression of such neurodegenerative diseases as ALS, Alzheimer, Parkinson and Huntington diseases.
and trigger the disease, said Alex Parker, CRCHUM researcher and associate professor in the Department of Neuroscience at the University of Montreal.
Amyotrophic lateral sclerosis is a neuromuscular disease that attacks neurons and the spinal cord. Those affected gradually become paralyzed and typically die less than five years after the onset of symptoms.
the person develops the disease. Scientists introduced a mutated human gene (TDP-43 or FUS) into C. elegans,
because we caused the disease. This allows us to administer treatment very early in the worm life.
But ALS is a disease of aging, which usually appears in humans around the age of 55.
But we have demonstrated clearly that blocking this key protein curbs the disease progress in this worm
10.1038/ncomms8319abstractneurodegeneration in C. elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neuronsamyotrophic lateral sclerosis (ALS) is a neurodegenerative disease thought to employ cell nonautonomous
mechanisms where neuronal injury engages immune responses to influence disease progression. Here we show that the expression of mutant proteins causative for ALS in Caenorhabditis elegans motor neurons induces an innate immune response via TIR-1/Sarm1.
In the process, they considered three important features of the disease: loss of neurons, reduced metabolism and deposition of amyloid protein in the affected brain areas.
but does not lead to the deficits otherwise associated with advanced stages of the disease.
It can therefore remain largely intact even in advanced stages of the disease. ur findings also lend support to a theory previously proposed in connection with other studies that found stronger network connections between the anterior gyrus cinguli and other nodes
This suggests that this area of the brain also provides specific compensatory functions as the disease progresses,
this work provides a novel conceptual framework for further studies aimed at identifying the molecular underpinnings of neurodevelopmental disease and psychiatric illness. pecifically,
and reacts to changes in the environment can help us to find new ways to treat neurodegenerative diseases and mental illness. ource:
and prevent diseases in general practice. We are not replacing the specialist we want to know which patients have a disease
and make an early detection, says Dr. Juan carlos Altamirano Vallejo, medical director of the Medical and Surgical Center for Retina.
because equipment to detect these diseases are expensive and so far only the visiting specialist can do this kind of diagnosis. t will help those that
#Novel Disease Gene Linked to Neurodegenerative Disorders Identified Researchers at the University of Miami (UM) have discovered
and characterized a previously unknown disease gene linked to the degeneration of optic and peripheral nerve fibers.
Ph d. student in Neuroscience at the UM Miller School of medicine and first author of the study. lthough we study rare diseases such as CMT2 and optic atrophy,
the implications encompass all forms of neurodegeneration including Lou Gehrig and Parkinson Diseases. Mitochondria constantly undergo fusion
Given the similarities between the diseases caused by mutations in OPA1, MFN2 and SLC25A46, these genes could be involved in common pathological mechanisms of neurodegeneration,
the study says. his finding builds on our discovery of MFN2 as a major disease gene in this area over 10 years ago,
It could also be used to identify links between viral infections and mysterious diseases like chronic fatigue syndrome.
He envisages screening wild populations of animals thought to be linked to emerging diseases.""You could test the wild bat population to get a good idea of
Wiring friendly bacteria to take out disease Matthew Wook Chang has opened an academy for assassins. His trainees are deadly.
The disease has one of the worst cancer survival rates, with less than 4 per cent of people living for five years or more after diagnosis. A major cause of this is that
The disease is identified only in time for curative surgery in about 15 per cent of people
when a person has the disease, giving us a way to test for it. The protein, glypican-1, sticks out from the surface of exosomes little globules that are thought to bud off from pancreatic cancer cells.
Raghu Kalluri of the University of Texas MD Anderson Cancer Center in Houston found that there is so much more glypican-1 in people with pancreatic cancer that a blood test can be used to accurately distinguish them from both healthy controls and people with the disease pancreatitis."
"This could, in turn, one day offer a way to spot diseases like pancreatic cancer at a much earlier stage,
and have a family history of the disease. The test could also be used for tracking the progress of therapies
His team found that the concentration of glypican-1 increases with the disease's severity,
may be useful for testing new drugs or monitoring diseases. We've levitated living things using magnets before,
Understanding the varied responses of cells could be a great boon to testing out new drugs and diagnosing diseases,
#Smart mirror monitors your face for telltale signs of disease Mirror mirror on the wall, am I at risk of heart disease?
Need for prevention revention is the most viable approach to reduce the socioeconomic burden of chronic and widespread diseases,
such as cardiovascular and metabolic diseases, they write. Clinical trials of the device will begin next year at three sites in France
which could boost our ability to track the spread of diseases such as cancer. Humar and his colleagues developed three ways to get cells to emit visible light.
it can officially take Nigeria off the list of countries where the disease is endemic.
Nigeria has come close to eradicating the disease several times before, only for it to re-emerge. But this is the longest the country has gone without reporting a case,
The road to zero cases The only places where the disease still circulates regularly are Afghanistan and Pakistan,
but not enough so that the disease would be considered endemic there. Both Afghanistan and Pakistan are making progress with their vaccination campaigns,
and unless we get to zero cases wee not going to finish this disease, says Rosenbaum. igeria will need to keep immunising and protecting the population. i
"I'm interested in solving a worldwide problem of diarrheal diseases, "says Dr. Mark Donowitz,
who runs this lab. He says 800,000 children a year die from these diseases notably cholera, rotavirus and certain strains of E coli."
so they aren't very helpful for studying diseases of the gut. So Donowitz's team is building
what it hopes will be a much better way to study these diseases: the gut-on-a-chip.
whether cells in the ersatz organ react the same way to diseases as do cells in the human gut."
"And in all three of the diseases I mentioned, we've been able to take that first step,
"So we know that these appear to be really good models of the human disease."
one use will be to test potential drugs for the diseases being studied.""We think this could be a real step forward in terms of reducing waste-of-time drug development,
The United Mitochondrial Disease Foundation estimates that from 1000 to 4000 American children are born each year with a mitochondrial disease e
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.
Kieny says which is still good enough to stop the spread of the disease.""I think it is very encouraging to see these very positive,
When a person comes down with the disease, health workers identify and vaccinate anyone likely to come in contact with the patient,
a number of patients are found unsuitable for surgery due to their smoking-related diseases. Nivolumab is among the set of drugs known as heckpoint inhibitorsthat are developed by a number of pharmaceutical companies.
#Kazakhstan Rare Saiga Antelopes die of Unknown Disease Killings of tens of thousands of endangered antelopes in ex-Soviet Kazakhstan have happened over the past two weeks.
However, researchers have so far not been able to pin the exact cause behind the disease outbreak.
Scientists said in a report Thursday by the United nations environment programme (UNEP that not even a single animal managed to survive after getting affected by the disease. nseasonal wetness may have been lowered something that their immunity to infection
has been found to be an excellent biomarker for disease. Finally, luminescence, fluorescence and optical imaging are all state-of-the-art imaging techniques that can be used to paint targets as small as a strand of DNA with glowing substances to make them stand out
and how to leverage data with statistical analysis while advancing new radiotracers and contrast agents for the imaging and treatment of a range of diseases,
which HIV-positive mothers no longer pass the disease on to their children, according to the World health organization (WHO).
Without treatment, they have a 15 to 45 percent chance of passing the virus on to their children, usually during pregnancy (when the disease crosses the placenta),
and were given breastfeeding substitutes in an effort to prevent the transmission of the disease. In concert, these initiatives workedn 2013,
a number low enough to qualify for THE WHO to validate that mother-to-child transmission of the disease has been eliminated effectively.
the director general of THE WHO. That because a reduction in HIV infection in babies could mean that there are fewer adults to transmit the disease to one another,
so the only way to cut down on incidences of the disease is to decrease the number of mosquitoes that carry it.
reducing the population of the disease-carrying insects by 95 percent, according to a study published last week in PLOS Neglected Tropical diseases.
or transmit the disease. Juazeiro, a city in northeast Brazil, was a great place to try them out.
Many of the mosquitoes that carry the disease are also resistant to pesticides, which meant that Brazilians were left with few options to decrease dengue prevalence.
In the course of that year, the number of disease-carrying mosquitoes decreased by 95 percent as compared to a control group in a neighborhood next door.
This isn Oxitec first attempt to decrease the prevalence of disease-carrying mosquitoeshe company did another trial in the Cayman islands in 2010ut this test was the most successful.
#New Ebola Vaccine Shows 100 Percent Effectiveness In Early Tests At this time last summer, the horrific and often fatal disease Ebola was ravaging West Africa in the deadliest outbreak
such as the United states. While the worst spread of the disease has been contained, the threat of a future Ebola outbreak persists.
since March 2015, has shown extraordinary results so far, with 4, 123 people voluntarily vaccinated and all safe from the disease.
thereby creating a ingof inoculation around the disease and stunting its spread. This technique was used to tremendous success in the eradication of smallpox.
more conclusive evidence is necessary to prove the vaccine ability to protect larger populations from the disease, according to THE WHO. This trait,
a shift in public opinion about the disease is happening. The rise in the number infected is not immediately
Stigma surrounding the disease keep high-risk individuals in hiding because of fear of judgement. A do-at home kit can remove the stress
He says lighting up cancer means a brighter future for people diagnosed with the deadly disease e
and to certain diseases, Dr Hickson said. In fact, all cancers are characterized by unchecked cell division, and the underpinning processes are potential targets for therapeutic interventions that prevent cancer onset
or kidney stone disease, than develop diabetes or heart disease. Kidney stones cause severe pain, obstruction of the urinary tract,
and infection control by reliably detecting patients well into their illness who are likely to be highly infectious.
and prevent diseases in general practice. We are not replacing the specialist, we want to know which patients have a disease
and make an early detection, "says Dr. Juan carlos Altamirano Vallejo, medical director of the Medical and Surgical Center for Retina."
and causes serious disease in many others. The virus makes for a difficult target for vaccines
and to certain diseases, said Hickson, who has devoted the last 15 years of his research life to cell biology.
making us tired, pale and more vulnerable to illness. It hits women and children the hardest, with almost 50 percent in the developing world being diagnosed with anaemia.
With TB remaining a leading cause of global illness and death, killing roughly 1. 3 million people each year,
"They had ranged disease that from dozens to hundreds of deposits of melanoma on a limb all the way to patients where cancer had spread to the lungs and liver,
and his colleagues could lead to new ways to treat neurodegenerative diseases and paralysis, as well as mapping out the brain in greater detail than ever before.
Lab-on-a-chip devices are already being used around the world to help provide on-the-spot diagnoses for diseases such as HIV and Ebola,
and turning on genes inside them to activate them against certain tumours or diseases, before then inserting these cells back into the patient.
in order to turn on genes against the desired disease, scientists need to deliver DNA into the patient cells,
which suggests to us that it may have applications in treating many diseases, "said Markowitz. The drug,
and stop epidemics One potential use for drones that you might not have thought about is preventing the spread of disease.
and analysing the diseases they're carrying:""The mosquito is the most dangerous animal on the planet,
This would allow scientists to not only monitor the spread of known diseases carried by mosquitoes,
and a microwave Carbon nanoparticles can be incredibly useful in the treatment of many types of disease,
"That clinical use involves the carbon spheres being coated with polymer-a polymer that can gradually release drugs into the system to fight cancer and other diseases.
for other kinds of cancers and for other diseases,"says Rohit Bhargava.""You can coat it with different polymers to give it a different optical response.
including treatment for other diseases and eye injuries,"said Ho. We can't wait t
and develop new treatments for neurological disorders, such as spinal cord injuries and Parkinson disease.""Our artificial neuron is made of conductive polymers
symptoms don often show until the disease has progressed to life-threatening stages, which means more than 80 percent of patients end up dying from it."
And more recently, theye been identified as potential markers for disease. Linehan and his team analysed exosomes in blood samples taken from 190 patients with pancreatic cancer, 32 with breast cancer,
and treating this disease, and fast n
#This sensor technology could make recharging a thing of the past If you own a smartphone,
although a sugar change is considered often just a marker for disease or a specific cell type our team has demonstrated clearly the functional role of a glycan during AD development.
Many of these patients are instructed to monitor closely their blood glucose levels to manage the disease.
This provides the conditions needed to study primary cells, such as neurons, opening doors for exploration of the pathogenic mechanisms of neural diseases and potentially leading to new gene therapies.
#Novel method to predict postoperative liver cancer recurrence in transplant patients UCLA transplantation researchers have developed a novel method that more accurately calculates the risk of disease recurrence in liver cancer patients who have undergone a liver transplant,
and patients with all sizes and numbers of tumors underwent transplantation often times with early recurrence of disease.
Of those 23000 will die of their disease. Liver cancer is the sixth most common cause of cancer worldwide and the third most common cause of cancer-related death.
and disease burden by source and industry type. Patents and publications (1981-2011) were evaluated using citation rates and impact factors.
Industry reduced early-stage research favoring medical devices bioengineered drugs and late-stage clinical trials particularly for cancer and rare diseases.
National institutes of health (NIH allocations did not correlate proportionately with disease burden. Cancer and HIV/AIDS were funded well above the predicted levels based on U s. disability alone with cancer accounting for 16 percent of total NIH funding and 25 percent of all
Estimates from the Centers for Disease Control and Prevention state about 2. 5 million U s. emergency department visits were associated with traumatic brain injury in 2010 with rates increasing by about 70 percent over the previous decade.
What makes this breakthrough exceptional is that it opens up new treatment avenues for OMS and LCA and potentially other retinal degenerative diseases."
a new gene, a possible new disease pathway, a new treatment avenue.""With ongoing support from the Foundation Fighting Blindness (FFB), Canada's largest charity supporting vision research, Dr. Koenekoop has spent more than a decade searching for genes linked to blindness.
This suggests that drugs that target Epha2 may prevent the development of new disease in patients who receive B-Raf and B-Raf/MEK inhibitor therapy.
Many farmers have abandoned their fields and harvests for fear of the disease. In Sierra leone for instance it is reported that up to 40%of farms were abandoned in the worst affected areas.
and paving the way for protecting millions more children at risk of the deadly disease.
and national governments has been crucial for mass vaccination campaigns that are due to continue until 2016 to cover at-risk populations in all 26 countries where disease burden from meningitis A is greatest.
or older was recommended to achieve sustainable disease control following the initial mass campaigns in 1-29 year olds.
and so ensure sustainable disease control in the region. Seven countries (Burkina faso Cameroon, Chad, Ghana, Mali, Niger,
and those to come, from a devastating disease, "said Dr. Kathy Neuzil, director of Vaccine Access and Delivery at PATH."
and develop a devastating disease called necrotizing enterocolitis (NEC) where life-threatening intestinal damage requires removal of large portions of the small intestine.
and disease and proven it to be fully functional as it develops from human cells said Grikscheit.
and neurodegenerative diseases, has been discovered by researchers at Georgia State university. Their findings are published in the journal Nature Communications this week.
"This pathway is associated highly with neurodegenerative diseases and depression.""The researchers took a high concentration of the purified protein,
"These same technologies can now be used to study the brains of people who died from unexplained neuropsychiatric diseases to determine
Interested in the relationship between astrocytes synapse formation and disease Eroglu's group showed in 2011 that hevin triggers the formation of new neural connections.
The group is now studying the molecular mechanisms of hevin and its potential contribution to health and disease.
or in the development of model systems to study diseases and test drugs. Stem cell technology is quickly advancing
and studying disease. The researchers compared the ability of both genome editing systems to either cut out pieces of known genes in ipscs
However when using these genome editing tools for replacing portions of the genes such as the disease-causing mutations in JAK2
and potential cures for human diseases says Cheng g
#Computing: Common'data structure'revamped to work with multicore chips Today hardware manufacturers are making computer chips faster by giving them more cores or processing units.
They discovered that byproducts of bacteria in gum disease, called metabolic small chain fatty acid (SCFA),
The researchers speculate that byproducts from other bacteria infections in other diseases might change gene expression using similar mechanisms.
their findings further support how important it is to treat bacterial infections in gum disease early.
In the interaction between gum disease and HIV, five SCFA byproducts from two prevalent oral bacteria--Porphyromonas gingivalis (Pg) and Fusobacterium nucleatum (Fn)--are involved in activating resting immune T-cells carrying latent (inactive
"The impact on waking up T-cells and activating HIV replication was a"double whammy"find that contributes to understanding the little-known microbiome in HIV disease,
That prompted the researchers to investigate the mechanism that drives the replication of the virus in gum disease.
As long as the patient is free of gum disease, the virus sleeps and remains in check, Karn said d
Since cell-free DNA has a relatively short half-life in the circulation sequencing of cell-free DNA soon after therapy may be used to detect minimal residual disease in solid tumors Mitchell said.
Their computational approach could be especially useful for forecasting drug resistance mutations in other diseases such as cancer HIV
Conversely these findings may help researchers understand disease associations with obesity and develop new strategies to optimize care e
The disease is linked strongly with'lifestyle'factors such as being overweight or having high blood pressure. Long-term complications of type 2 diabetes include kidney eye
or even reversing the disease in preclinical models. Treating fat tissues with IL-33 restored normal Treg cell levels
and our research highlights the important role it plays in preventing disease e
#From bacterium to biofactory Research team including Dr. Stefan Schiller, his assistants Dr. Matthias Huber and Dr. Andreas Schreiber,
or die when threatened with disease onset. The gene mechanism that we discovered is the interplay of two genes turned on by the messenger Neuroprotectin D1.
Age-related macular degeneration (AMD) is a devastating disease that targets the retina of the elderly
The causal mechanisms of this disease remain elusive. The retinal pigment epithelium (RPE is a single layer of cells that accomplishes multiple functions such as providing survival molecules that prevent photoreceptors from dying.
They showed that NDP1 bioactivity governs key gene interactions decisive in cell survival when threatened by disease or injury.
#New breast cancer risk prediction model more accurate than current model A new breast cancer risk prediction model combining histologic features of biopsied breast tissue from women with benign breast disease
and are referred to as benign breast disease (BBD).""Annually, more than a million American women have a biopsy with a benign finding
"Since women with benign breast disease are at higher risk for breast cancer, optimal early detection is extremely important,
New Molecular Target Identified A drug already approved for treating other diseases may be useful as a treatment for cerebral malaria, according to researchers at Harvard T. H. Chan School of Public health.
and the outcome of the disease, identifying two molecular pathways that could serve as new targets for treatment."
"said senior author James Mitchell, associate professor of genetics and complex diseases.""However, the real importance of this work is the identification of unexpected molecular pathways underlying cerebral malaria that we can now target with existing drugs."
Cerebral malaria--a severe form of the disease--is the most serious consequence of infection by the parasite Plasmodium falciparum,
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