Heart gene therapy trial begins

Mrs Gedda, from Essex, is among 200 patients being enrolled on a gene therapy trial to test whether introducing genetic material into damaged heart cells can improve their function

It is 18 months since Carol Gedda suffered a massive heart attack. It left her with just 20% of her heart functioning. “I have a lot of trouble with stairs, and sometimes I can even run out of breath in a conversation”, says Mrs Gedda, who is 65.

She is one of at least 750,000 people in the UK with heart failure. It occurs when the heart is damaged and becomes unable to pump blood adequately.

There are treatments for the condition but nothing so far that can reverse the damage.

Mrs Gedda, from Essex, is among 200 patients being enrolled on a gene therapy trial to test whether introducing genetic material into damaged heart cells can improve their function.

Researchers at Imperial College London found that levels of the protein SERCA2a are lower in patients with heart failure.

Royal Brompton Hospital in London, where Mrs Gedda is being treated, is one of only two British centres taking part in the international study; The Golden Jubilee National Hospital in Glasgow is also involved.

Before joining the trial Mrs Gedda had baseline measurements taken for her fitness.

She walked up and down a 30m hospital corridor for six minutes – the distance she travelled was noted by one of the hospital researchers.

Her heart function was also analysed.

At Royal Brompton, the gene therapy is delivered at the NIHR biomedical research unit, via a coronary angiogram under local anaesthetic.

Trojan horse

The researchers have ‘hidden’ the gene inside a genetically modified virus which is able to latch on to heart muscle cells but is believed to be entirely harmless.

The virus acts like a Trojan horse, delivering the extra DNA into the nucleus of the heart cells.

The hope is the gene will prompt the heart cells to produce more of the SERCA2a protein and repair some of the damaged heart muscle.

Half of the patients will receive the gene therapy, while the rest will get a placebo or dummy drug.

“I’m delighted to be on the trial,” says Mrs Gedda. ” Of course I don’t know whether I’ve received the gene therapy or the placebo but it is exciting to be part of it. I have three sons and my heart problem is partly genetic so it could be helpful to my family in the future.”

The trial, known as CUPID2, is funded by the US biotechnology company, Celladon. It will be around three years before the results are known.

Dr Alexander Lyon, British Heart Foundation senior lecturer and consultant cardiologist at Royal Brompton hospital and Imperial College stresses that the treatment is far from being a cure, but says there is great excitement about the trial.

“A few patients in the United States who received the same dose we are using appear to have done extremely well.

“Importantly, early trials suggest the treatment is safe. But we need this large study before we can be sure the gene therapy really works. If we could find an effective treatment, that would be very exciting.”

David Palmer, from Norfolk was the first patient in the UK to have the treatment.

The left side of his heart is enlarged and he suffers arrhythmias – irregular heart rhythms.

He said: “My heart is forever jumping out rhythm – I don’t pass out just feel faint and very weak.

“Once I fell into a fridge in Sainsburys. I wasn’t hurt but it was a bit embarrassing.”

Mr Palmer, aged 50, says he is unsuitable for a heart transplant because he has had the condition so long, which leaves the gene therapy trial as his best hope:

“For people like me who are in the last chance saloon it gives us the opportunity to stabilise our condition and live that bit longer. It’s far from being a cure but if it works then it would be a major advance for huge numbers of patients.”

Source: http://www.bbc.co.uk/news/health-23962607


Inner ear disorders ‘linked to hyperactivity

Human ear

children and teenagers with inner-ear disorders – especially those that affect hearing and balance – often have behavioral problems.

Inner-ear problems could be a cause of hyperactive behavior, research suggests.

A study on mice, published in Science, said such problems caused changes in the brain that led to hyperactivity. It could lead to the development of new targets for behavior disorder treatments, the US team says.

A UK expert said the study’s findings were “intriguing” and should be investigated further.

Behavioral problems such as ADHD are usually thought to originate in the brain. But scientists have observed that children and teenagers with inner-ear disorders – especially those that affect hearing and balance – often have behavioral problems.

However, no causal link has been found.

The researchers in this study suggest inner-ear disorders lead to problems in the brain which then also affect behavior.

Gene mutation

The team from the Albert Einstein College of Medicine of Yeshiva University in New York noticed some mice in the lab were particularly active – constantly chasing their tails.

They were found to be profoundly deaf and have disorders of the inner ear – of both the cochlea, which is responsible for hearing, and the vestibular system, which is responsible for balance.

The researchers found a mutation in the Slc12a2 gene, also found in humans. Blocking the gene’s activity in the inner ears of healthy mice caused them to become increasingly active.

The researchers then examined the striatum, an area in the centre of the brain area that controls movement. They found higher-than-normal levels of two proteins, pERK and pCREB.

Mice with the gene flaw were given injections of haloperidol, a medicine already used to treat tics – uncontrollable movement – in humans.

It was seen to counteract the high protein levels, and mouse activity patterns returned to normal.

The researchers suggest the same process could be targeted in people, and that medications could be developed to help manage hyperactivity in children with inner-ear disorders.

Prof Jean Hebert, the lead scientist, said: “Our study provides the first evidence that a sensory impairment, such as inner-ear dysfunction, can induce specific molecular changes in the brain that cause maladaptive [counterproductive] behaviors traditionally considered to originate exclusively in the brain.”

Anita Thapar, professor of child and adolescent psychiatry at Cardiff University’s Institute of Psychological Medicine and Clinical Neurosciences, said it was an “intriguing study and set of findings”.

Prof Thapar, whose research has suggested there could be a genetic link to attention deficit hyperactivity disorder (ADHD), added: “It certainly raises the issue that we ought to critically consider what contributes to the links between sensory impairments and specific behaviors’/disorders.”

But she added there should be caution about directly extrapolating the findings to humans.

“ADHD, like most neuropsychiatric and medical disorders, is not caused by a single mutation.

“On the other hand animal models allow for experimental manipulation in a way that cannot be achieved in humans and the results can help shape hypotheses to test in humans.”

Source : BBC News

 


Compound reverses learning deficits in mice with down syndrome traits

Chromosomes DNA genes istock.jpgFor people with trisomy 21 – more commonly known as Down syndrome – learning and remembering important concepts can be a struggle, since some of their brain’s structures do not develop as fully as they should.

But now, researchers may have found a way to reverse the learning deficits associated with Down syndrome, after having discovered a compound that can significantly bolster cognition in mice with a condition very similar to trisomy 21.

In a new study published in the Sept. 4 issue of Science Translational Medicine, scientists injected a small molecule known as a sonic hedgehog pathway agonist into the brains of genetically engineered mice on the day of their birth.  The treatment enabled the rodents’ cerebellums to grow to a normal size, allowing them to perform just as well as unmodified mice in behavioral tests.

“We’ve been working for some time to characterize the basis for how people with trisomy 21 diverge in development from people without trisomy 21,” Roger Reeves, a professor in the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University School of Medicine, told FoxNews.com. “One of the early things we see is that people with Down syndrome have very small cerebellums, which does a lot more things than we used to think it did.”

Down syndrome is a condition that occurs when people receive three – rather than the typical two – copies of chromosome 21. Because of this “trisomy,” Down syndrome patients have extra copies of the more than 300 genes contained in that chromosome.  This leads to a range of symptoms, including mild to moderate intellectual disability, distinct facial features, heart defects and other health problems.

Through previous research, Reeves found that another distinct trait of people with Down syndrome is a cerebellum that’s approximately 60 percent of the normal size.  In order for this important brain region to grow and form, a small population of cells in the brain must quickly divide and multiply shortly after birth. This cell population requires a specific growth factor known as the sonic hedgehog pathway to stimulate the cells, triggering them to divide.

However, the trisomic cells in people with Down syndrome do not respond as well to this growth factor, stunting the development of the cerebellum – a region of the brain found to be important in cognitive processing and emotional control.

“We thought if we could stimulate these cells a bit at birth, we could make up the deficit,” Reeves said.

To test this theory, Reeves and his research team created a series of genetically engineered mice, all of which had extra copies of about half of the genes found in chromosome 21.  According to Reeves, this caused the mice to have many of the same characteristics seen in patients with Down syndrome, such as a smaller cerebellum and learning difficulties.

The researchers then injected the mice with a sonic hedgehog pathway agonist, which stimulates the growth factor pathway needed to trigger cerebellum development.   The compound was given to the mice just once on the day of birth.

“From that one injection, we were able to normalize the growth of the cerebellum, and they continued to have a structurally normal cerebellum when they grew up,” Reeves said.

Going one step further, the researchers conducted a series of behavioral tests on the mice to better understand how normalizing this brain structure would affect their overall performance.  One of these tests was the Morris water maze test, an experiment that involves placing the mice in a pool of water and seeing how long it takes them to escape using a platform hidden below the water’s surface.  The test measures the rodents’ spatial learning and memory capabilities, which are primarily controlled by the hippocampus.

“We didn’t expect to see any results from that,” Reeves said. “We knew that the most potent effects of the growth factor were in the specific cells (in the cerebellum) we were targeting, but it turned out that the mice that got a single shot of this agonist at birth, when tested three months later, they performed just as well as their (unmodified) litter mates in the water maze test.”

The sonic hedgehog agonist has yet to be proven effective in humans with Down syndrome, and future research is needed to determine exactly how the injection improved the mice’s cognitive abilities and whether or not the agonist has any side effects.  But Reeves remains hopeful that these findings could have translational potential.

“We’re on the verge of a revolution for expanding the potential of people born with trisomy 21,” Reeves said.
Source Fox News

 

 


Cataract surgery linked to longer life

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354 persons aged 49 years diagnosed with cataract-related vision impairment – some of whom had undergone surgery and others who had not – were assessed between 1992 and 2007.

People who have had cataract surgery to improve their sight live longer than those who choose not to undergo the procedure, according to a new study.

The research is drawn from data gathered in the Blue Mountains Eye Study, a population-based cohort study of vision and common eye diseases in an older Australian population.

A total of 354 persons aged 49 years and older and diagnosed with cataract-related vision impairment – some of whom had undergone surgery and others who had not – were assessed between 1992 and 2007.

Adjustments were made for age and gender as well as a number of mortality risk factors, including hypertension, diabetes, smoking, cardiovascular disease, body mass index and measures of frailty and comorbid disease. Follow-up visits took place after five and ten years since the baseline exam.

Jie Jin Wang, Ph.D., of the Westmead Millennium Institute and one of lead researchers of the study, said that their fiodnings suggested that correcting cataract patients` visual impairment in their daily practice results in improved outcomes beyond that of the eye and vision, and has important impacts on general health.

Wang noted one limitation of the study is that participants with cataract-related visual impairment who did not have cataract surgery could have had other health problems that prevented them from undergoing surgery, and that these other health problems could partly explain the poorer survival among non-surgical participants.

The study has been published in the journal of the American Academy of Ophthalmology.

 


Some flu vaccines promise a little more protection

Flu vaccination is no longer merely a choice between a jab in the arm or a squirt in the nose. This fall, some brands promise a little extra protection.

For the first time, certain vaccines will guard against four strains of flu rather than the usual three. Called quadrivalent vaccines, these brands may prove more popular for children than their parents. That’s because kids tend to catch the newly added strain more often.

These four-in-one vaccines are so new that they’ll make up only a fraction of the nation’s supply of flu vaccine, so if you want a dose, better start looking early.

But that’s only one of an unprecedented number of flu vaccine options available this year.

Allergic to eggs? Egg-free shots are hitting the market, too.

Plus there’s growing interest in shots brewed just for the 65-and-older crowd, and a brand that targets the needle-phobic with just a skin-deep prick.

“We’re moving away from the one-size-fits-all to choosing the best possible vaccine for an individual’s age and condition,” said Dr. Gregory Poland, an infectious disease specialist at the Mayo Clinic.

“The flip side of that,” he said, is that “this will be a confusing year” as doctors and consumers alike try to choose.

Federal health officials recommend a yearly flu vaccine for nearly everyone, starting at 6 months of age. On average, about 24,000 Americans die each flu season, according to the Centers for Disease Control and Prevention.
Read more: http://www.foxnews.com/health/2013/09/03/some-flu-vaccines-promise-little-more-protection/#ixzz2duD5QbHz

 


Researchers discover potential epilepsy drug using zebrafish

An antihistamine used to treat itching may be the key to preventing seizures in children with a rare, yet severe form of epilepsy known as Dravet Syndrome.

The discovery was made by screening hundreds of government-approved drugs in animals with the same genetic mutation as children with the disorder.  But instead of using rodents – the typical animal model for drug screenings – researchers used an unlikely test subject for their experiment: zebrafish.

According to the researchers, the antihistamine known as clemizole could be the first line approach for reducing the effects of Dravet Syndrome – a condition with very limited treatment options.

“Dravet Syndrome is a catastrophic form of childhood epilepsy, and it often leads to severe symptoms and death,” Scott Baraban, a professor of neurological surgery at the University of California, San Francisco and William K. Bowes Jr. Endowed Chair in neuroscience research, told FoxNews.com.  “Within the first year of life, children will start to have seizures and have several hundred per day.  They’ll have delays in speech, cognitive problems, ataxia, which is trouble standing… And while there are drugs that are given that reduce the effects, there aren’t too many treatment options for these kids.”

Baraban first pioneered the idea of using the small, translucent zebrafish to test drugs for epilepsy in 2005, as the zebrafish’s genome is 80 percent identical to the human genome. In order to better understand the effects of a certain drug, researchers place zebrafish larvae – which are no longer than a human eyelash – into petri dish baths filled with that drug.  Since the larvae require the water for respiration, the drug immediately enters their systems through the bath, allowing researchers to quickly observe how the fish respond.

“The fact that fish are permeable to the drug – that’s a huge advantage for drug screening,” Baraban said. “Most drugs are tested using a cell-based culture, but when drugs move on to next stage in the animal model, they’re often toxic.  So the advantage with zebrafish is we can test effectiveness and toxicity of the drug at the same time.”

Baraban decided to use this drug screening method for Dravet Syndrome after he came across a zebrafish with a mutation in the SCN1A gene, the same genetic mutation commonly associated with the epileptic disorder.  The SCN1A gene codes for a voltage activated sodium channel, which allows ions to pass through the membranes of neurons and regulate how they fire.  In Dravet Syndrome, these channels allow too many ions to pass through the neural membranes, causing the neurons to fire excessively.

Zebrafish with the SCN1A gene mutation showed the same developmental pattern as children with the mutation, moving around in erratic patterns whenever they experienced a seizure.  Just as children with Dravet Syndrome begin having seizures one year after birth, the fish began experiencing seizures three days after fertilization.  And though the fish typically died after just 10 to 12 days, Baraban said they are extremely easy to breed, yielding incredibly large cohorts for testing.

“One breeding pair will give 100 pairs of eggs, so one quarter of the offspring will have the mutation we’re interested in – and they’ll have spontaneous seizures,” Baraban said. “We decided to do a hyper approach screening, where we take a library of commercially available drugs and screened them to see if they stop the seizures in fish.”

Baraban’s team tested a random assortment of 320 compounds in a chemical library of drugs that had already been approved by the Food and Drug Administration.  Through this indiscriminate testing, they stumbled upon the antihistamine clemizole, which eliminated the seizure activity in the fish within 10 minutes of application.

The reason behind clemizole’s efficacy remains a mystery, especially since antihistamines can sometimes make seizures worse.  The researchers even tested 10 other antihistamines on the fish, but none was successful at blocking the seizures.  Baraban theorized that another biological mechanism in clemizole, apart from its antihistamine properties, is responsible for the therapeutic effects.

Because clemizole is already FDA-approved, Baraban hopes it can soon be tested in small clinical trials of people suffering from Dravet Syndrome and that it will produce little to no side effects.  He is also fairly confident the drug will be effective in humans, since the mutant zebrafish so closely mirrored humans with the condition.

“We screened (the zebrafish) with epilepsy drugs already given to kids with Dravet Syndrome, and the fish predicted the same compounds,” Baraban said.  “So the drugs that work in humans also worked in fish, and the drugs that didn’t work in humans didn’t work in the fish.  So it suggests that clemizole could be directly applicable.”

Not only is Baraban’s research inspiring for people suffering from Dravet Syndrome, but his zebrafish method could be used to find therapeutic agents for various other conditions caused by mutations in a single gene.  He said this technique offers a much more tailored approach to drug screening.

“There’s no reason you couldn’t model lots of different genetic disorders in zebrafish,” Baraban said. “So genetic forms of Alzheimer’s, Parkinson’s, they can all be modeled in zebrafish and used in drug screening.  And in the epilepsy field this is just one example.  So if you’re child has a gene mutation, we can make fish with that specific gene mutation and screen for drugs that are effective for your children.”

The research was published online in the journal Nature Communications.
source: http://www.foxnews.com/health/2013/09/03/researchers-discover-potential-epilepsy-drug-using-zebrafish/#ixzz2dtomTNDN

 


Scientists discover gene that controls the birth of neurons

Scientists at A*STAR’s Genome Institute of Singapore discover gene that controls the birth of neurons. (Image: A*STAR)Scientists at A*STAR’s Genome Institute of Singapore (GIS) have discovered an unusual gene that controls the generation of neurons. This important finding, which is crucial in understanding serious diseases of the brain such as Alzheimer’s disease, is reported in the journal Molecular Cell.

The central nervous system is composed of numerous cell types that develop into a complex, higher-ordered structure. The birth of neurons (known as neurogenesis) is a process that requires exquisite temporal and spatial control of hundreds of genes. The expression of these genes is controlled by regulatory networks, usually involving proteins, which play critical roles in establishing and maintaining the nervous system. Problems with neurogenesis are the basis of many neurological disorders, and the understanding of the molecular details of neurogenesis is therefore crucial for developing treatments of serious diseases.

A neuron or nerve cell is an electrically excitable cell that processes and transmits information through electrical and chemical signals. Neurons connect to each other to form neural networks. Neurons are the core components of the nervous system, which includes the brain, spinal cord, and peripheral ganglia.

Researchers at the GIS, led by principal investigator Lawrence Stanton, discovered a key component within a gene regulatory network which controls the birth of new neurons, called RMST. Surprisingly, this new discovery is not a protein. Rather, RMST is an atypical, long non-coding RNA (lncRNA for short; pronounced as “link RNA”). The new findings demonstrate that the RNA does not produce a protein to handle the regulatory process. Instead, it acts directly as a regulatory mechanism. LncRNAs are a newly discovered class of RNA whose functions remain mostly unknown.

The new discovery of how RMST works within a gene regulatory network not only sheds light on the process of neurogenesis, but also generates new insight into how lncRNA works together with protein components to regulate the important biological processes of gene expression.

Lawrence Stanton said, “There is now great excitement about the revelation that RNA is more than just a messenger carrying genetic information that encodes for proteins. New classes of RNA, called long non-coding RNAs (lncRNA), have been discovered, which are capable of unanticipated functional diversity. However, systematic functional investigations of exactly what, and how, lncRNAs do in our cells remain scant. Our study paves the way for understanding a crucial role played by a lncRNA in human neurons.”

Leonard Lipovich, from the Centre for Molecular Medicine and Genetics at the Wayne State University and a member of GENCODE, said, “In their paper in Molecular Cell, Stanton and colleagues show how RMST, a human lncRNA, directly regulates SOX2, a key transcription factor protein that is instrumental for directing the birth of new neurons. Even more intriguingly, they highlight that RMST controls SOX2 by directly interacting with the protein. The paper is therefore an important advance in the still nascent and controversial field of riboregulators, or RNAs that regulate proteins in our cells. DNA-binding proteins that turn genes on and off were traditionally thought to be distinct from RNA-binding proteins. Stanton et al, however, illuminate the cryptic, yet crucial, RNA-binding roles for DNA-binding transcription factors: lncRNAs just might be the definitive regulatory switch that controls these factors’ activity.”

GIS executive director Huck Hui Ng added, “One cannot overemphasize the importance of neurogenesis, which is responsible for the normal functioning of one of the most important biological systems in the body. Larry Stanton and his team have made an exciting finding, one that could lead to new approaches in the treatment of neural diseases. This latest work has built upon their unique, interdisciplinary expertise, developed over the past 10 years at the GIS, in applying cutting-edge genomics technologies to the study of the human body.”

 Source: http://www.indiamedicaltimes.com/2013/08/31/scientists-discover-gene-that-controls-the-birth-of-neurons/


Eating whole fruit lowers risk of diabetes than its juices

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Eating whole fresh fruit, especially blueberries, grapes, apples and pears, will lower risk of type 2 diabetes, but drinking more fruit juice has the opposite effect

Eating more whole fresh fruit, especially blueberries, grapes, apples and pears, is linked to a lower risk of type 2 diabetes, but drinking more fruit juice has the opposite effect, says a study.

British, US and Singaporean researchers pored over data from three big health investigations that took place in the United States, spanning a quarter of a century in all.

More than 187,000 nurses and other professional caregivers were enrolled.

Their health was monitored over the following years, and they regularly answered questionnaires on their eating habits, weight, smoking, physical activity and other pointers to lifestyle.

Around 6.5 percent of the volunteers developed diabetes during the studies.

People who ate at least two servings each week of certain whole fruits, especially blueberries, grapes and apples, reduced their risk of type 2 diabetes by as much as 23 percent compared to those who ate less than one serving per month.

“Our findings provide novel evidence suggesting certain fruits may be especially beneficial for lower diabetes risk,” said Qi Sun, an assistant professor of nutrition at the Harvard School of Public Health.

On the other hand, those who consumed one or more servings of fruit juice each day saw their risk of the disease increase by as much as 21 percent.

Swapping three servings of juice per week for whole fruits resulted in a seven-percent reduction in risk, although there was no such difference with strawberries and cantaloupe melon.

“Greater consumption of specific whole fruits, particularly blueberries, grapes, and apples, was significantly associated with a lower risk of type 2 diabetes, whereas greater fruit juice consumption was associated with a higher risk,” the authors say in the paper.

The paper, published on Friday by the British Medical Journal (BMJ), says further work is needed to to explore this “significant” difference.

It speculates that, even if the nutritional values of whole fruit and fruit juice are similar, the difference lies with the fact that one food is a semi-solid and the other a liquid.

“Fluids pass through the stomach to the intestine more rapidly than solids even if nutritional content is similar,” says the paper.

“For example, fruit juices lead to more rapid and larger changes in serum [blood] levels of glucose and insulin than whole fruits.”

The study also points to evidence that some kinds of fruit have a beneficial effect for health.

Berries and grapes, for instance, have compounds called anthocyanins which have been found to lower the risk of heart attacks.

But, say the authors, how or even whether this also applies to diabetes risks is for now unclear.

The investigation looked at data from the Nurses` Health Study, which ran from 1984-2008; the Nurses` Health Study II (1991-2009); and the Health Professionals Follow-Up Study (1986-2008).

Ten kinds of fruit were used in the questionnaire: grapes or raisins; peach, plums or apricots; prunes; bananas; cantaloupe melon; apples or pears; oranges; grapefruit; strawberries; and blueberries.

The fruit juices identified in the questionnaire were apple, orange, grapefruit and “other.”

Source: http://zeenews.india.com/news/health/healthy-eating/whole-fruit-deters-diabetes-juice-boosts-risk-study_23641.html


Scientists grow “mini human brains” from stem cells

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with human stem cells and created a culture in the lab that allowed them to grow into so-called “cerebral organoids” – or mini brains

Scientists have grown the first mini human brains in a laboratory and say their success could lead to new levels of understanding about the way brains develop and what goes wrong in disorders like schizophrenia and autism.
Researchers based in Austria started with human stem cells and created a culture in the lab that allowed them to grow into so-called “cerebral organoids” – or mini brains – that consisted of several distinct brain regions.

It is the first time that scientists have managed to replicate the development of brain tissue in three dimensions.

Using the organoids, the scientists were then able to produce a biological model of how a rare brain condition called microcephaly develops – suggesting the same technique could in future be used to model disorders like autism or schizophrenia that affect millions of people around the world.

“This study offers the promise of a major new tool for understanding the causes of major developmental disorders of the brain … as well as testing possible treatments,” said Paul Matthews, a professor of clinical neuroscience at Imperial College London, who was not involved in the research but was impressed with its results.
Zameel Cader, a consultant neurologist at Britain`s John Radcliffe Hospital in Oxford, described the work as “fascinating and exciting”. He said it extended the possibility of stem cell technologies for understanding brain development and disease mechanisms – and for discovering new drugs.
Although it starts as relatively simple tissue, the human brain swiftly develops into the most complex known natural structure, and scientists are largely in the dark about how that happens.

This makes it extremely difficult for researchers to gain an understanding of what might be going wrong in – and therefore how to treat – many common disorders of the brain such as depression, schizophrenia and autism.

GROWING STEM CELLS

To create their brain tissue, Juergen Knoblich and Madeline Lancaster at Austria`s Institute of Molecular Biotechnology and fellow researchers at Britain`s Edinburgh University Human Genetics Unit began with human stem cells and grew them with a special combination of nutrients designed to capitalize on the cells` innate ability to organize into complex organ structures.
They grew tissue called neuro ectoderm – the layer of cells in the embryo from which all components of the brain and nervous system develop.

Fragments of this tissue were then embedded in a scaffold and put into a spinning bioreactor – a system that circulates oxygen and nutrients to allow them to grow into cerebral organoids.

After a month, the fragments had organized themselves into primitive structures that could be recognized as developing brain regions such as retina, choroid plexus and cerebral cortex, the researchers explained in a telephone briefing.
At two months, the organoids reached a maximum size of around 4 millimeters (0.16 inches), they said. Although they were very small and still a long way from resembling anything like the detailed structure of a fully developed human brain, they did contain firing neurons and distinct types of neural tissue.

“This is one of the cases where size doesn`t really matter,” Knoblich told reporters.

“Our system is not optimized for generation of an entire brain and that was not at all our goal. Our major goal was to analyze the development of human brain (tissue) and generate a model system we can use to transfer knowledge from animal models to a human setting.”
In an early sign of how such mini brains may be useful for studying disease in the future, Knoblich`s team were able to use their organoids to model the development of microcephaly, a rare neurological condition in which patients develop an abnormally small head, and identify what causes it.

Both the research team and other experts acknowledged, however, that the work was a very long way from growing a fully-functioning human brain in a laboratory.
“The human brain is the most complex thing in the known universe and has a frighteningly elaborate number of connections and interactions, both between its numerous subdivisions and the body in general,” said Dean Burnett, lecturer in psychiatry at Cardiff University.

“Saying you can replicate the workings of the brain with some tissue in a dish in the lab is like inventing the first abacus and saying you can use it to run the latest version of Microsoft Windows – there is a connection there, but we`re a long way from that sort of application yet.”

Source: http://zeenews.india.com/news/health/health-news/scientists-grow-mini-human-brains-from-stem-cells_23619.html


New technology makes breast cancer surgery more precise

FDA approved MarginProbe in December 2012, and UC Irvine Medical Centre is the first hospital in the US to employ the system

Any breast cancer surgeon who regularly performs lumpectomies confronts the question “Did I get it all?” Thirty to 60 per cent of the time in the US, the answer is “no,” requiring the patient to undergo a second surgery to remove the remaining tumor.

Surgeons at UC Irvine Medical Centre are the first in the country to use a device that reduces by half the need to re operate and cut out breast cancer cells missed during an initial lumpectomy. The Margin Probe System lets the surgeon immediately assess whether cancer cells remain on the margins of excised tissue. Currently, patients have to wait days for a pathologist to determine this.

“All of my patients know someone who has had to go back into surgery because their doctor didn’t get the entire tumor out,” said UC Irvine Health surgical oncologist Dr Alice Police. “The ability to check tissue in the operating room is a game changer in surgery for early-stage breast cancer.”

The goal in a lumpectomy is to completely remove the cancer while preserving as much normal breast tissue as possible. If a pathologist finds cancer cells on the edges of the tissue taken out, surgeons must assume the lumpectomy didn’t get the entire tumor.

The Food and Drug Administration (FDA) approved MarginProbe in December 2012, and UC Irvine Medical Centre is the first hospital in the US to employ the system, according to manufacturer Dune Medical Devices.

Dr Police, assistant professor of surgery at UC Irvine and medical director of Pacific Breast Care in Costa Mesa, and Dr Karen Lane, associate professor of surgery and clinical director of the UC Irvine Health Breast Health Centre in Orange, began operating with MarginProbe in early March.

They had participated in an FDA trial that included more than 660 women across the US. In the prospective, multicentre, randomized, double-arm study, surgeons applied the device to breast tissue removed during in-progress initial lumpectomies and, if indicated, shaved additional tissue on the spot. This was found to reduce by 56 per cent the need for repeat surgeries.

“It will save you a lot of anxiety,” said Jane Madigan, a Costa Mesa resident who underwent the procedure with Dr Police as part of the MarginProbe trial. “You will come out of that surgery knowing you are cancer-free.”

The system comprises a sterile handheld probe and a portable console. When the probe tip touches an excised lumpectomy specimen, radio-frequency signals are transmitted into the tissue and reflected back to the console, where they are analyzed using a specialized algorithm to determine tissue status.

Source: http://www.indiamedicaltimes.com/2013/06/06/new-technology-makes-breast-cancer-surgery-more-precise/