Synopsis: Domenii: Health: Health generale: Illness:


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#Raising Computers to Be Good Scientists Making sense of the new scientific data published every year including well over a million cancer-related journal articles is a tall order for the contemporary scientist.

such as the treatment of cancer patients, is an arduous, uphill battle. But an associate professor in the University of Arizona School of Information

fast, individualized and precise biomedical care. he REACH project is applied to cancer biology, but we have an even bigger vision than that,

although cancer biology is big enough, Morrison said. If big data is a two-part challenge,

the system was able to process 1, 000 papers on RAS-related cancers in a matter of hours,

Secondly, RAS oncogenes are mutated in 33 percent of all human cancers, making them one of the most highly researched classes of oncogenes.

As of now, REACH is already familiar with 30 different species affected by RAS-related cancers.


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Many thousands of viruses are known to cause illness in people and animals, and making a diagnosis can be an exhaustive exercise,

or are limited to detecting only those viruses suspected of being responsible for a patient illness. ith this test,

which the cause of a disease outbreak is unknown. Results published online in September in the journal Genome Research demonstrate that in patient samples the new test called Virocap can detect viruses not found by standard testing based on genome sequencing.

Marburg and severe acute respiratory syndrome (SARS), as well as more routine viruses, including rotavirus and norovirus, both of which cause severe gastrointestinal infections.

Developed in collaboration with the university Mcdonnell Genome Institute, the test sequences and detects viruses in patient samples

influenza B, a cause of seasonal flu; parechovirus, a mild gastrointestinal and respiratory virus; herpes virus 1, responsible for cold sores in the mouth;

which causes chickenpox. In a second group of children with unexplained fevers, standard testing had detected 11 viruses in the eight children evaluated.

But the new test found another seven, including a respiratory virus called human adenovirus B type 3a,

but can cause severe infections in some patients. In all the number of viruses detected in the two patient groups jumped to 32 from 21,

while standard testing identified a virus as influenza A, which causes seasonal flu, the new test indicated that the virus was a particularly harsh subtype called H3n2.

so that it could be used to detect pathogens other than viruses, including bacteria, fungi and other microbes,

as well as genes that would indicate the pathogen is resistant to treatment with antibiotics or other drugs, said co-author Kristine Wylie, Phd, assistant professor of pediatrics.


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#Ground-breaking computer program diagnoses cancer in two days In the vast majority of cancer cases, the doctor can quickly identify the source of the disease, for example cancer of the liver, lungs, etc.

and attempts to locate the origin of the cancer before starting any treatment. Now, researchers at DTU Systems Biology have combined genetics with computer science

and created a new diagnostic technology based on advanced self learning computer algorithms whichn the basis of a biopsy from a metastasisan with 85 per cent certainty identify the source of the disease

Each year, about 35,000 people are diagnosed with cancer in Denmark, and many of them face the prospect of a long wait until the cancer has been diagnosed and its source located.

However, even after very extensive tests, there will still be 2-3 per cent of patients where it has not been possible to find the origin of the cancer.

In such cases, the patient will be treated with a cocktail of chemotherapy instead of a more appropriately targeted treatment,

are based on analyses of DNA mutations in cancer tissue samples from patients with metastasized cancer,

i e. cancer which has spread. The pattern of mutations is analysed in a computer program which has been trained to find possible primary tumour localizations.

whether an individual cancer patient will benefit from a specific type of medicine. This is a very effective method

and it is becoming increasingly common to conduct such sequencing for cancer patients. Associate professor Aron Eklund from DTU Systems Biology explains:

e are pleased very that we can now use the same sequencing data together with our new algorithms to provide a much faster diagnosis for cancer cases that are difficult to diagnose,

and thus also as an effective and easy way of monitoring people who are at risk of developing cancer.


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#Scientists test new gene therapy for vision loss from a mitochondrial disease NIH-funded study shows success in targeting MITOCHONDRIAL DNA in mice Researchers funded by the National institutes of health have developed a novel mouse model for the vision disorder

Leber hereditary optic neuropathy (LHON), and found that they can use gene therapy to improve visual function in the mice.

LHON is one of many diseases tied to gene mutations that damage the tiny energy factories that power our cells,

because the approaches that the investigators used could aid therapy development for a vast array of other mitochondrial diseases,

as well as a host of other diseases. But the unique nature of mtdna has presented challenges for developing

and testing potential therapies for such diseases. Until now here was no efficient way to get DNA into mitochondria,


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when it is needed no longer. his really is a completely new platform for closing wounds or holes anywhere in the body,


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The transplanted photoreceptors migrated naturally within the retina of their host. one transplant represents a therapeutic solution for retinal pathologies caused by the degeneration of photoreceptor cells,

offering hope that treatments may be developed for currently non-curable degenerative diseases, like Stargardt disease and ARMD. esearchers have been trying to achieve this kind of trial for years,

he said. hanks to our simple and effective approach, any laboratory in the world will now be able to create masses of photoreceptors.

ARMD is in fact the greatest cause of blindness amongst people over the age of 50

Beyond the clinical applications, Professor Bernier findings could enable the modelling of human retinal degenerative diseases through the use of induced pluripotent stem cells,


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lack of link to autism New research finds no evidence that thimerosal-containing vaccines cause negative behaviors or result in neuropathology in infant primates,

Other animals received just the measles-mumps-rubella (MMR) vaccine, which does not contain thimerosal,

the administration of vaccines to rhesus macaques did not result in neuropathological abnormalities or aberrant behaviors such as those often observed in autism.

Cellular analysis of the cerebellum, amygdala and hippocampus three brain regions known to be altered in autism was vaccinated similar in


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#New Test Predicts Teensfuture Risk of Heart disease Risk for cardiovascular disease, currently running rampant in the United states,

The test accounts for many risk factors for the deadly disease and has the potential to be adapted by physicians nationwide to assess teenagersfuture risk

Approximately 610,000 people die from heart disease every year in the United states oughly one of every four deaths

according to the Centers for Disease Control. Cardiovascular disease has predominantly modifiable risk factors, meaning that the disease is entirely preventable.

These risk factors include high blood pressure, high cholesterol, obesity, physical inactivity, diabetes, unhealthy diets and smoking.

The only risk factor unable to be changed is genetic predisposition. A team led by Dr. Mark Deboer of the U. Va. Department of Pediatrics

and Matthew Gurka of West virginia University School of Public health developed the new diagnostic test. The test relies on an evaluation of metabolic syndrome,

a conglomeration of conditions including increased blood pressure, high levels of blood sugar, excessive body fat around the abdomen and waist,

and abnormal cholesterol levels that together increase the risk of cardiovascular disease. It takes into account variables specific both to race

and gender. he way that we normally diagnose metabolic syndrome appears to have some racial discrepancies,

where African-american individuals are diagnosed not with metabolic syndrome at a very high rate and yet they are at very high risk for developing type 2 diabetes and cardiovascular disease,

so Dr. Gurka and I formulated a metabolic syndrome severity score that is specific to sex and ethnicity,

Deboer said. In creating the test, Deboer and Gurka examined metabolic severity scores from children in the 1970s that assessed body mass index, systolic blood pressure, fasting triglycerides, HDL cholesterol (the so-called oodcholesterol) and fasting glucose.

at an average age of 49.6 years. he current study was targeted at using that metabolic syndrome severity score on data from individuals who were children in the 0s to see

if it correlated with their risk on developing cardiovascular disease and type 2 diabetes later in life,

and we found that there was a high correlation between the metabolic severity score for those children and for their later development of cardiovascular disease and diabetes,

The test is innovative in that it is able to assess changes in metabolic syndrome severity in a person over time

or does not have metabolic syndrome, but the new test is able to create a scale,

which a youth is at risk. e are hopeful that this score can be used to assess the baseline risk for adolescents regarding metabolic syndrome

and their risk for future disease and use it as a motivator for individuals to try to change their risk

or get medication to reduce their metabolic syndrome severity and their future risk for disease, Deboer said.

There is also a website available for calculating a child metabolic syndrome severity score using clinical measures e


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The researchers also suggest that this technology will be useful in the surgical treatment of brain tumors.

Surgeons aggressively removing a tumor run the risk of damaging normal brain tissue and impairing the patient brain functions;

on the other hand, incomplete removal of a tumor results in immediate relapse in 90%of patients. Being able to simultaneously see the surgical field

and the contrast agent identifying cancerous tissue within the augmented microscope may allow surgeons to remove these challenging tumors more accurately


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Ultimately, it could be used in the early diagnosis of brain tumours or Alzheimer disease. This work is published in PNAS.

Many diseases involve structural changes in tissues which are reflected in a change in their mechanical properties, such as elasticity.

says Stéfan Catheline, Inserm Research director and main author of this work. lzheimer disease, epilepsy, multiple sclerosis and hydrocephalus involve changes in the stiffness of the brain tissues.

This new technique allows their detection, and could be used to avoid brain biopsies. This method for palpating the brain could have other areas of application,

such as for analysing the development of neurodegenerative processes, the impact of a lesion from a trauma or tumour, response to treatment, etc e


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but can cause disease in other species. he presence of this type of virus found in pigsnown as porcine endogenous retroviruses,

they would eliminate an important potential safety concern facing this field. ang says the team hopes eventually they can completely eliminate the risk that PERVS could cause disease in clinical xenotransplantation by using modified pig cells to clone a line of pigs that would have their PERV genes inactivated.


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Now University of Pennsylvania researchers have shown at the molecular level how experiencing stress changes a male mouse sperm in such a way that it affects his offspring response to stress.

me that seemingly mild stress to a male mouse would trigger this massive change in microrna response

had offspring with a dampened response to stress. When they compared sperm from the stressed fathers to their unstressed counterparts,

the researchers examined their response to stress, just as they had done in their 2013 study. he results mapped right onto

When subjected to a mild stress, in this case, being restrained briefly, the offspring that arose from the zygotes that received the multi-mir injections had lower cortisone levels compared to offspring in the control groups.

a brain region involved in directing stress regulation, suggesting widespread changes in early neurodevelopment. Finally the researchers aimed to determine how the mirs were carrying out this effect after fertilization.

when a male experiences stress it may trigger the release of mirs contained in exosomes from the epithelial cells that line the epididymis,

such as providing stressed males with enrichment or a reward, might prevent them from passing on an abnormal stress response to the next generation.


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the result is a potentially fatal arrhythmia. Now, a team of researchers from Oxford and Stony Brook universities has found a way to precisely control these waves using light.

hen there is scar tissue in the heart or fibrosis, this can cause part of the wave to slow down.


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and reducing disease. DNA NANOSTRUCTURES: Conducting nanoscale biomolecular research could lead to low-cost DNA sequencing technologies,

and help explain the molecular causes of disease. Alternative energy Solutions/New Materials Research: Finding new and more efficient solutions to energy harvesting, nanoporous membranes for water desalinization, solar thermal fuels and more.

and help us better understand the functions and interactions of genes, the origin and spread of diseases, the co-evolution of hosts and parasites and migration of human populations.


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especially mutations, has become critically important for the detection of diseases and design of therapies to treat them.

In one of many successful tests, the lab designed molecules to detect mutation sequences in historic biopsy samples preserved in wax from cancer patients.

One of the researchersgoals is to design noninvasive cancer diagnostics that detect DNA biomarkers in blood samples for early screening and early recurrence detection.

and apply it to cancer detection a


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#Clinical trial shows first ever positive results in treating primary progressive and relapsing multiple sclerosis Three phase three clinical studies using the drug ocrelizumab to treat patients with multiple sclerosis (MS) have yielded positive results for treating two forms of the disease and the first ever positive results

for a treatment for the less common primary progressive form (PPMS). MS is a condition of the central nervous system in which myelin,

which is characterised by attacks of the disease that interspersed by relatively symptom-free periods.

on 732 patients with PPMS, found that those treated with the drug had a reduction in the progression of clinical disability of 24 per cent.

These data demonstrate that B-cell targeting can significantly modify the disease, which in effect means a more positive outlook for patients.


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The research, funded by the blood cancer charity Bloodwise and the Medical Research Council (MRC

This provides an explanation for how cellular processes go awry in both Shwachman-Diamond syndrome and one in 10 cases of T-cell acute lymphoblastic leukaemia.

open up the possibility that a single drug designed to target this molecular fault could be developed to treat both diseases.

e are starting to find that many forms of blood cancer can be traced back to defects in the basic housekeeping processes in our cellsmaturation.

Pioneering improvements to electron microscopes pave the way for the creation of a detailed map of the how these diseases develop,

ew insights into the biology of blood cancers and disorders that originate in the bone marrow have only been made possible by the latest advances in technology.


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the result is a potentially fatal arrhythmia. Now, a team of researchers from Oxford and Stony Brook universities has found a way to precisely control these waves using light.

hen there is scar tissue in the heart or fibrosis, this can cause part of the wave to slow down.


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potent way to boost immunity and fight viruses`Many viral infections, such as the common cold, cause mild illnesses that the body immune system eventually defeats.

But when viruses cause severe disease, doctors have few options for effective treatment. Studying mice with a variety of viral infections,

scientists at Washington University School of Medicinein St louis have demonstrated a way to dial up the body innate immune defenses

And at 100-fold lower concentrations, all genetically engineered mice survived the infection, compared with only 25-28 percent of the control mice.

Holtzman and his colleagues reported no evidence of autoimmune disease in these mice. Holtzman said a possible explanation for the impressive survival rates

when there is an infection and decrease when there is no infection. Wee not boosting interferon itself,

but the secondary signal that interferon activates, which sets off the rest of the antiviral cascade.

the researchers showed their system was effective in mice with equine encephalitis virus and with strains of influenza virus relevant to public health,


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#Mini-kidney organoids re-create disease in lab dishes Stem-cell biology and gene editing advances offer hope for kidney regeneration,

and respond to toxic injury in ways that are similar to kidney tubules in people. major unanswered question was

To re-create human disease, Freedman and his colleagues used the gene-editing technique called CRISPR.

They engineered mini-kidneys with genetic changes linked to two common kidney diseases, polycystic kidney disease and glomerulonephritis.

The organoids developed characteristics of these diseases. Those with mutations in polycystic kidney disease genes formed balloon like, fluid filled sacks, called cysts, from kidney tubules.

The organoids with mutations in podocalyxin, a gene linked to glomerulonephritis, lost connections between filtering cells. utation of a single gene results in changes kidney structures associated with human disease,

thereby allowing better understand of the disease and serving as models to develop therapeutic agents to treat these diseases,

explained Joseph Bonventre, senior author of the study. He is chief of the Renal Division at Brigham

and Women Hospital and a principal faculty member at Harvard Stem Cell Institute. hese genetically engineered mini-kidneys, Freedman added,

ave taught us that human disease boils down to simple components that can be re-created in a petri dish.

This provides us with faster, better ways to perform linical trials in a dishto test drugs

The researchers found that genetically matched kidney organoids without disease-linked mutations showed no signs of either disease.


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#Modeling genetic diseases in mini-kidney organoids Harvard Stem Cell Institute researchers at Brigham and Women Hospital have combined cutting-edge,

Chief of the Renal Division at Brigham and Women Hospital at Harvard and the study senior author. e were interested in creating disease models using these kidney organoids,

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

or those associated with glomerulonephritis. The scientists then coaxed the stem cells to differentiate into mature kidney cells that self-assembled into functional organoids with the physical complications related to their genetic mutations;

for example, organoids with polycystic kidney disease formed cysts, while organoids with changes in a protein that is implicated in glomerulonephritis displayed altered cell to cell interactions,

which could ultimately lead to leaky filters in the mature kidney. utation of a single gene results in changes in kidney structures associated with human disease,

allowing better understanding of the disease and serving as models to develop therapeutic agents to treat these diseases,

Bonventre said. Kidney disease costs the United states 40 billion dollars per year and affects 700 million people worldwide.

Twelve million patients have polycystic kidney disease and two million people have complete kidney failure. Dialysis and kidney transplantation

and poor quality-of-life. hese genetically engineered mini-kidneys have taught us that human disease boils down to simple components that can be re-created in a petri dish,


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even in presence of anticoagulants A nanofiber hydrogel infused with snake venom may be the best material to stop bleeding quickly, according to Rice university scientists.

and quickly turns into a gel that conforms to the site of a wound, keeping it closed,

It has been used in various therapies as a way to remove excess fibrin proteins from the blood to treat thrombosis and as a topical hemostat.

This is important because surgical bleeding in patients taking heparin can be a serious problem. The use of batroxobin allows us to get around this problem

and injected at the site of a wound, where they reassemble themselves into a gel.

Tests showed the new material stopped a wound from bleeding in as little as six seconds and further prodding of the wound minutes later did not reopen it.

The new work builds upon the Rice lab extensive development of injectable hydrogel scaffolds that help wounds heal

What we did was combine it with the hydrogel wee been working on for a long time. e think SB50 has great potential to stop surgical bleeding, particularly in difficult cases in


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#Researchers discover an epilepsy switch A team from the University of Bonn uses a new approach to solve an old mystery Scientists at the University of Bonn

and the Hebrew University of Jerusalem (Israel) have decoded a central signal cascade associated with epileptic seizures.

If the researchers blocked a central switch in epileptic mice, the frequency and severity of the seizures decreased.

it was possible to observe the processes prior to the occurrence of epileptic seizures in living animals.

or her life suffers an epileptic attack, during which the nerve cells get out of their usual rhythm and fire in a very rapid frequency.

Often, a seizure disorder develops after a delay following transient brain damage for example due to injury or inflammation.

these channels act like a doorman to regulate the entry of calcium ions in the nerve cells. t has also been known for a long time that following transient severe brain injury and prior to an initial spontaneous epileptic seizure, the concentration of free zinc ions

If the number of zinc ions increases following transient severe brain damage, these ions dock in greater numbers onto a switch, the so-called metal-regulatory transcription factor 1 (MTF1.

This leads to a large increase in the amount of a special calcium ion channel in the nerve cells and overall, this significantly boosts the risk of epileptic seizures.

The scientists demonstrated the fact that the transcription factor MTF1 plays a central role in this connection using an experiment on mice suffering from epilepsy. sing a genetic method,

we inhibited MTF1 in the epileptic mice and as a result, the seizures in the animals were much rarer

This makes it possible to examine the processes which take place during the development of epilepsy in a living animal. f the fluorescence molecules glow,

this indicates that the mouse is developing chronic epileptic seizures, says the molecular biologist Prof. Dr. Susanne Schoch from the department of Neuropathology at the University of Bonn.

Hope for new options for diagnosis and treatment The scientists hope that new treatment options will open up for epilepsy patients


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#Researchers discover mechanism that could lead to better ovarian cancer treatment Resistance to chemotherapy is a major problem for those suffering from ovarian cancer problem that prevents a cure from a disease dubbed the ilent killer.

Over the last five years, UGA College of Pharmacy associate professors Mandi Murph and Shelley Hooks have discovered that a type of protein known as RGS10 impacts the effectiveness of ovarian cancer chemotherapy.

Resistance to chemotherapy that was previously very effective is a major roadblock that prevents better outcomes in this disease.

Finding mtor as the mechanism of RGS10 effects could help explain the unique features of chemoresistant cancer cells. hemoresistance to ovarian cancer is what kills women,

Hooks said. t the deadliest gynecologic cancer. Most women with ovarian cancer will have their tumors come back. ithin two years,

85 percent of women will have their cancer come back in a more aggressive form, Murph said. t is during that time that they won respond to the chemotherapy.

Their article ellular deficiency in the RGS10 protein facilitates chemoresistant ovarian cancer, reviews over five years worth of research on RGS10 and was published in Future Medicinal Chemistry.

Their findings on RGS10 have jump-started an interest in the protein as well as created several major research articles on the topic.

the chemotherapy for ovarian cancer is more or less effective, Hooks explained. They also found that RGS10 is silenced epigenetically,

she explained. t would mean a better chance of survival for women with ovarian cancer.

it could also be the key to improving treatment of chemotherapy. hemoresistance prevents us from curing the disease,

we can cure ovarian cancer. Currently, platinum chemotherapy drugs, like paclitaxel and carboplatin are used as a one-size-fits-all treatment for ovarian cancer patients.

However, chemoresistance to platinum drugs remains a serious challenge to curing ovarian cancer. Murph recommends more research on mtor inhibitors to see how they can be modified to respond to chemotherapy. ive years ago

this field of RGS10 cancer research didn exist, she said. ut Dr hooks and I have been able to create this area of research

and lead it. Before no one knew or cared about RGS10 effects in cancer cells. Now we have more research that could contribute to improving chemotherapy. h


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#Researchers identify a target to stop the spread of ovarian cancer UNSW researchers have discovered a method for disrupting the spread of ovarian cancer, by blocking receptors present on the surface of cancer cells.

and stops the cancer will soon be developed. The findings are published in the journal Oncotarget. With no early detection test and a lack of obvious symptoms in the early stages of ovarian cancer,

women are diagnosed usually late after the cancer has spread to other organs in the body.

Survival rates for ovarian cancer remain at around 40%%with the disease killing 150,000 women worldwide every year.

Very little is known about how and why ovarian cancer spreads and researchers say this is due, in part, to a lack of understanding of the key genes and molecules that initiate and control the progression and growth of ovarian cancer.

That is slowly changing thanks to pioneering work by researchers at UNSW Lowy Cancer Research Centre and their international partners.

In their latest study, the UNSW team found tissue sections taken from ovarian cancer patients had a significantly higher expression of the receptor molecule, Ror2

than tissue sections taken from benign samples. It has previously been shown that its ister receptor Ror1,

is expressed also abnormally in ovarian cancer patients and associated with poor survival. The team also established that concurrently silencing both receptors had a strong inhibitory effect on the proliferation, migration and invasion of the cancer cells.

Lead author, Dr Caroline Ford, said the discovery is exciting because the receptor molecules identified seem to be expressed universally in all epithelial ovarian cancer patients,

not just those with hereditary ovarian cancer. ome drugs are showing promise as a treatment for patients with hereditary ovarian cancer,

however this group makes up only 15%of all ovarian cancer patients, said Dr Ford from UNSW Lowy Cancer Research Centre. or the majority of patients with ovarian cancer,

treatment options have made little progress over the past 30 years and there are currently no targeted therapies available. ersonalised medicine is about targeting treatment to an individual particular genetic profile,

and unlike other cancer types such as breast, this is still very much in its infancy in ovarian cancer treatment.

Researchers believe the Ror amilyof receptor molecules are attractive drug targets for three reasons. First, the receptors are not usually present in normal adult tissues

which means that any drug therapy will likely have few side effects. Second the location of the receptors on the outer surface of cancer cells means they can be accessed easily by drugs.

and other members of this specific class of receptors have been targeted successfully for cancer therapies. The cancer drugs Herceptin, Gleevec and Iressa all target receptors of this class.

Separate research has also found that the Ror2 receptor is associated with unfavourable prognosis and tumour progression in cervical cancer.

and others suggests that in all gynaecological cancers both Ror1 and Ror2 may be expressed over and is important for disease progression.

Dr Ford believes it is imperative that the relationship of the two receptors is investigated, to further understand their individual and combined roles in the progression

and spread of ovarian cancer. nce we better understand the roles of these receptors we will be in a position to develop a drug to target these receptors and hopefully halt ovarian cancer in its tracks,

The UNSW study focused on epithelial ovarian cancer which is the most common type making up about 90%of tumours of the ovary.

Rarer types of ovarian cancer include germ cell tumours (cancer of the egg making cells of the ovary) and sarcomas t


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