Research

Microbe Transplants Treat Diseases That Drugs Can’t Fix

Billie Iverson may be getting up there, but for an 86-year-old, she’s still plenty active.

“I take trips, and I go do my own shopping, and I take myself to the doctor,” Iverson says. “I do everything. I don’t let anything stop me.”

But one day, she got hit with something she’d never experienced — the worst case of the runs ever.

For days at a time, off and on for weeks, the problem kept coming back. Iverson eventually got so weak, she ended up in for days at a time, off and on for weeks, the problem kept coming back. Iverson eventually got so weak; she ended up in a nursing home.

“I just thought maybe I wasn’t going to make it,” she says. “I thought I was going to die.”

Finally, Iverson’s daughter took her to see Colleen Kelly, a doctor at Brown University. Kelly knew right away what was going on.

“It’s very classic, this pattern,” Kelly says. “We’ve seen hundreds of cases over the last couple of years at our program.”

Kelly’s program specializes in the microbes that live in our digestive systems — trillions of bacteria, viruses, fungi and other mostly helpful microbes whose genes scientists collectively call the human microbiome .

The problem, she told Iverson, started when antibiotics prescribed for another health problem disrupted the community of benign organisms in her intestines, leaving her vulnerable to a really bad bug — a bacterium called Clostridium Difficile

“You can almost look at C. diff as … the prototypical example,” Kelly says, of how a disruption in the human microbiome can result in disease.

Kelly is among a growing number of doctors who are starting to use what scientists are learning about our microbiomes to help prevent, diagnose, and treat many illnesses. For Iverson, she proposed something that may sound pretty radical — what doctors call a fecal transplant

“It’s really almost like an organ transplant,” Kelly says. “You’re taking this whole community of microorganisms from one person, [and] transplanting them into another person. Then these things … take root, colonize and kind of restore that balance.”

Iverson says she initially found the idea repulsive. But she felt so desperate that she agreed to try it.

“I was scared to death, honey,” Iverson says. “I’m an old lady. I’ve got one foot in the grave and the other on the banana peel.”

The procedure turned out to be really easy. And it worked — virtually overnight. “It stopped,” Iverson says. “Right away. I’m feeling good now. I’m feeling great.”

What happened to Iverson is the most dramatic example of how doctors are manipulating the microbiome in lots of ways to help lots of different kinds of patients.

For one thing, Kelly says doctors are testing the use of the transplants in other illnesses, such as colitis, Crohn’s disease and diabetes. And there’s even talk of trying the treatment for obesity.

“We’re at a really interesting point in medicine where we’ve come to appreciate the microbiome and that [these organisms] have really integral roles in … energy metabolism, and immune function, and all of these other things,” Kelly says.

At the same time, researchers are looking for more subtle ways to fix our microbiomes. For starters, they’re trying to remove the “yuk” factor from microbiome transplants by figuring out exactly which microorganisms patients really need and giving them just those. And there’s tons of research involving so-called probiotics — live cultures of supposedly beneficial microbes, typically included in yogurt or other foods or supplements probiotics are meant to be swallowed, in hopes that they’ll outcompete pathogenic bacteria and restore a healthy balance.

The evidence is really mounting to the point where I think it’s undeniable that the ingestion of live bacteria — safe bacteria in high numbers — has an overall beneficial effect on human health,” says colin hill of the University College Cork in Ireland.

Scientists are testing a long list of probiotics for a variety of health problems, including vaginal infections, colic in babies and weakened immune systems in the elderly. They’re also studying so-called prebiotics— non digestible carbohydrates meant as food for the good microbes.

Now, anyone who walks into a grocery store these days knows that hundreds of prebiotic and probiotic products are already on the market. You can’t watch TV or go on the Internet without hearing the kinds of claims the manufacturers of these products make.

The companies point to studies supporting their claims. But many experts say there are still huge questions about how safe such products are, how pure they are, and whether they really do what their makers say they do.

“All of those things together open up the opportunity for … the equivalent of snake oil salesmen related to probiotics or microbial treatments, or fecal transplants or whatever,” says Jonathan Eisen of the University of California, Davis.

And Eisen is not alone in his criticism. The Food and Drug Administration has big concerns. Those concerns include whether microbiome transplants might spread infections, or are being promoted for unproven uses, or whether they might actually increase the risk for some health problems.

“The gut microbiome can affect obesity, diabetes [and] a number of other disorders,” says Jay Slater, director of the FDA’s Division of Bacterial, Parasitic and Allergenic Products. “These are the kinds of concerns that would indicate that good long-term studies really should be done.”

So the FDA requires that doctors who want to do microbiome transplants for anything other than C-diff treatment get FDA approval first. And physicians must warn patients that, even for C-diff, the treatment is still experimental. Scientists studying probiotics have to put them through the same careful testing that regular drugs go through.

All this is really frustrating for many scientists. They argue that these regulatory roadblocks are holding up research and making it too hard for patients to get microbiome transplants.

“People are dying of C. diff,” says Kelly. “And people are living in this really terrible state. I see people who’ve lost their jobs, people who’ve become depressed because of just the feeling of utter hopelessness. And I think it’s really unethical to withhold the treatment from patients who need it.”

As for Iverson, she agrees that anyone who needs such a transplant should be able to get one.

“I think it’s terrific,” she says. “I think it’s the best thing that ever happened. This is like a step to heaven having this done.”

Mosquito ‘invisibility cloak’ discovered

A hand in a mosquito cage was not attractive when covered with the chemical

A naturally occurring substance found in human skin could yield a viable alternative to existing mosquito repellent, scientists say.

They say the chemical could help render people “invisible” to the insects.

At the American Chemical Society meeting, they revealed a group of compounds that could block mosquitoes’ ability to smell potential targets.

When a hand with these chemicals was placed in a mosquito filled enclosure, it was completely ignored.

The team says their work could help prevent the spread of deadly diseases.

Mosquitoes are among the most deadly disease-carrying creatures. They spread malaria, which in 2010 killed an estimated 660,000, according to the World Health Organization (WHO).

Ulrich Bernier of the United States Department of Agriculture (USDA) who presented the work, said his team was exploring other options to Deet – a repellent which some do not favour.

Buzzing off

In fact, earlier this year a team of scientists said that the widely used repellent was losing effectiveness.

“Repellents have been the mainstay for preventing mosquito bites… [but] we are exploring a different approach, with substances that impair the mosquito’s sense of smell. If a mosquito can’t sense that dinner is ready, there will be no buzzing, no landing and no bite,” said Dr Bernier.

It has long been known that some people are more attractive to mosquitoes than others, but now the team has pinpointed a group of chemical components secreted naturally, that can mask human smell from the blood-sucking insects.

Dr Bernier explained that hundreds of compounds on the skin makes up a person’s smell. In order to see what smells attracted mosquitoes, his team sprayed various substances onto one side of a cage.

It was the compounds that didn’t attract any mosquitoes that they looked at further and when sprayed on a human hand, the insects did not react or attempt to bite.

‘Invisible hand’

These chemical compounds, including 1-methylpiperzine, were found to completely block their sense of smell.

The compounds could be added into many cosmetics and lotions, Dr Bernier added.

“If you put your hand in a cage of mosquitoes where we have released some of these inhibitors, almost all just sit on the back wall and don’t even recognize that the hand is in there. We call that anosmia or hyposmia, the inability to sense smells or a reduced ability to sense smells.”

Commenting on the work, James Logan of the London School of Hygiene and Tropical Medicine, said it was exciting to find out exactly which chemicals repelled mosquitoes.

“Although we already have good repellents on the market, there is still room for new active ingredients. The challenge that scientists face is improving upon the protection provided by existing repellents.

“If a new repellent can be developed which is more effective, longer lasting and affordable, it would be of great benefit to travellers and people living in disease endemic countries,” Dr Logan told BBC News.

But he said that it would take many years before a new product would make it to market.

Source: BBC News/health

Research renaissance offers new ways out of depression

As Susan sits chatting to a nurse in a London clinic, a light tapping sound by her head signals that parts of her brain are being zapped by thousands of tiny electro-magnetic pulses from a machine plugged into the wall.

The 50 year-old doctor is among growing ranks of people with so-called treatment-resistant depression, and after 21 years fighting a disorder that destroyed her ability to work and at times made her want to “opt out of life”, this is a last resort.

Until recently, Susan and others like her had effectively reached the end of the road with depression treatments, having tied the best drugs medical science had to offer, engaged in hours of therapy, and tried cocktails of both.

But a renaissance in research into depression prompted by some remarkable results with highly experimental treatments has changed the way neuroscientists see the disorder and is offering hope for patients who had feared there was nowhere left to go.

Their drive to find an answer has taken neuroscientists to uncharted waters – researching everything from psychedelic magic mushrooms, to the veterinary tranquilizer ketamine, to magnetic stimulation through the skull, to using electrical implants – a bit like a pacemaker for the brain – to try and reset this complex organ’s wiring and engender a more positive outlook.

Their sometimes surprising findings have in turn taught them more about depression – leading to a view of it not as a single mental illness but a range of disorders each with distinct mechanisms, yet all producing similarly debilitating symptoms.

“The thinking about depression has been revitalized,” said Helen Mayberg, a neurologist at Emory University in Atlanta in the United States.

“We have a new model for thinking about psychiatric diseases not just as chemical imbalance – that your brain is a just big vat of soup where you can just add a chemical and stir – but where we ask different questions – what’s wrong with brain chemistry and what’s wrong with brain circuits.”

Add a chemical and stir?

There’s little doubt that until this new breath of hope, depression had been going through a bad patch.

Affecting more than 350 million people, depression is ranked by the World Health Organization as the leading cause of disability worldwide. In extreme cases, depressed people kill themselves. Around a million people commit suicide every year, the majority due to unidentified or untreated depression.

Treatment for depression involves either medication or psychotherapy – and often a combination of both. Yet as things stand, as many as half of patients fail to recover on their first medication, and around a third find no lasting benefit from any medication or talking therapy currently available.

High hopes for “wonder” drugs like Prozac, Seroxat and others in their class of selective serotonin reuptake inhibitors (SSRIs) in the 1980s and 1990s were dimmed by studies in the 2000s that showed they helped a proportion of people, but left at least 30 percent of patients little or no better than before.

And as chronically depressed patients move from trying one drug to the next, or one type of therapy to another, their hopes too dim as it becomes clear that failing to get better with each depressive bout in turn also ups their chances of relapse.

For Susan, the battle seemed never ending.

When she was at her lowest, she dreaded each day, says she was “frightened of everything” and overwhelmed even by straightforward tasks like making a meal for her two children.

“I was taking double doses of antidepressants – two types at once – and because I was also very agitated I was on (the sedative) chloral hydrate to help me sleep,” she told Reuters.

“So I was on this massive amount of medication, but with no effect whatsoever on my depression. Nothing was working.”

Desperate to help patients like Susan, and alarmed by news of some pharmaceutical firms such as GlaxoSmithKline abandoning research and development in depression because it was proving too hard to find new drugs that could turn a profit, doctors began looking for new approaches.

“We often encounter patients who say ‘I’ve tried a million things and nothing seems to be working’,” said Rafael Euba, a consultant psychiatrist at the London Psychiatry Centre (LPC) where Susan was treated. “We want to instill a feeling of hope.”

Electro-therapy

In Susan’s case, past experience with a controversial electrical intervention – electro convulsion therapy (ECT) – which she says was what eventually clawed her back from her severe depression 17 years ago, lead her to investigate the latest in electrical treatments – so-called repetitive transcranial magnetic stimulation, or rTMS

Approved by medicines regulators in the United States and in Europe it is a painless treatment that uses electro-magnetic induction to activate an area of the brain that psychiatrists know is involved in the regulation of mood.

Unlike ECT, which gained notoriety in the 1975 American drama film One Flew Over the Cuckoo’s Nest, rTMS it does not induce “shock”, but is far more targeted, delivering a pulse to neurons in the brain and that makes them fire again.

At the LPC – currently the only place in Britain where patients can get rTMS – a treatment course can be anything from 3 to 6 weeks of half an hour a day, five days a week.

It isn’t cheap. The treatment costs $2,300 per week, with the average course lasting four weeks. And some patients also need weekly or fortnightly “maintenance” sessions beyond that.

Patients put on a white fabric cap and the electro-magnetic coil is positioned over the part of the brain that needs help – normally the left dorso-lateral prefrontal cortex, which is a few inches above the temple beneath the skull.

“Unlike with other psychiatric treatments, patients tend to find this experience quite pleasant,” said Euba. “All you get is a slight tingling on the scalp – and some people like that because it’s a physical sensation that something is happening.”

Although they are from a controlled trial and show only a snapshot of the couple of dozen patients treated and monitored at one clinic, Euba’s results so far have been striking.

Of 24 patients with depression ranging from mild to severe who received rTMS at the LPC, 18 of them – or 75 percent – got completely well and were classed as being in remission. Two more responded to treatment but did not get completely well, and only four – 17 percent – did not respond.

Deep brain stimulation

Mayberg and her colleagues in the United States had also been intrigued by the potential for electrical stimulation to ease severe depression, but they went in deeper.

After the success of using deep brain stimulation (DBS) devices made by firms such as Medtronic to treat tremors in patients with Parkinson’s disease, her team conducted a trial using them in a small number of patients who’d had depression for decades and had not been helped by numerous different drugs.

Electrical stimulation devices were implanted into the brains of patients with severe depression and bipolar disorder.

“In this treatment the stimulation continues all the time – they implant the “pacemaker” and leave it switched on for years – and only sometimes they have to change the battery,” said Jonathan Roiser, a reader in cognitive neuroscience at University College London.

According to study results published in the Archives of General Psychiatry journal last year, the number of patients who had responded to treatment after two years was very high – at 92 percent – and the proportion who were completely well and in remission from their depression was 58 percent.

For psychiatrists more used to seeing patients fail again and again to get better on any kind of treatment, these results were unheard-of. “It was a remarkable finding,” says Roiser.

Yet it’s not just the brain’s wiring that is getting more attention. Chemistry, too has thrown up some exciting results.

Researchers who looked, for example, at the veterinary tranquilizer ketamine – or “Special K” as it is called as a party drug – found that in some patients with depression it dramatically reduced their symptoms, sometimes within hours – and kept their mood stable for several weeks after treatment.

Inspired by these uplifting findings, several drug firms, including Roche, AstraZeneca and Johnson & Johnson’s Janssen unit, are in the early or mid stages of developing ketamine derivatives into what they hope will become successful new antidepressants.

Define subtypes and treat accordingly

Experts say the success these new and some still experimental treatments for depression emphasizes the re-thinking of it as not one but a cluster of disorders.

“We now have this increasingly influential model of what is causing mental health problems like depression – one focused on the brain circuits,” said Roiser.

“We’ve learnt a lot about how these circuits operate, what kind of cognitive tasks they are involved in, how they interact and how they are connected to each other.”

More evidence of this came in a recent study in the Journal of the American Medical Association in which researchers found that brain scans of depressed patients could help predict whether they would be more likely to respond to treatment with anti-depressant drugs or with psychotherapy.

The study focused on a part of the brain known as the insula, which plays a role in influencing emotions.

It found that in patients whose scans showed their insula consumed an excess of glucose, psychotherapy was more likely to help. In patients whose insula were less active, consuming less glucose, antidepressants were more successful.

“Our gut tells us there are subtypes (of depression), and this shows that if you look the brain, you should define the biology and treat accordingly – just as we do in other branches of medicine (like cancer or diabetes),” said Mayberg.

Far from being defeated by the emergence of depression as a more complex a disorder than first assumed, scientists say the renaissance in research is based in confidence that deeper knowledge will ensure new and better treatments can be found.

Roiser confesses to feeling “extremely excited and optimistic” about the future of treating mental illnesses.

“We’re in a movement away from the traditional psychological and biological explanations for depression – which look increasingly outdated and simplistic – and we’re in the middle of specifying these disorders in terms of their underlying brain circuits,” he said. “That’s a much better position than we were in 20 years ago.”

 

 

Indian-origin scientist’s new home test for influenza

An Indian-origin scientist has developed a new technology which is showing promise as the basis for a much-needed home test to diagnose influenza quickly.

Suri Iyer, of Georgia State University in Atlanta, and University of Cincinnati colleague Allison Weiss, explained that such a fast, inexpensive diagnostic test – similar to the quick throat swabs for strep throat and to home pregnancy tests – is especially important for flu, as it helps select the most effective drug for treatment.

Iyer’a different approach involves using carbohydrates to detect the antigens, and has advantages over antibody-based approaches. Flu viruses have two major antigens, hemagglutinin and neuraminidase, which determine the specific strain of flu virus.

The researcher explained how the new test technology uses various forms of carbohydrates that can capture the hemagglutinin and neuraminidase, and via a colour change or other signal, indicate both infection and the specific type or strain of flu virus.

Information on the strain would be important, enabling doctors to pick the most effective antiviral drug. The new approach has other potential advantages, including quicker results, lower cost and greater reliability, he said.

The study was presented at the 246th National Meeting and Exposition of the American Chemical Society (ACS).

Genetic cause of childhood leukemia revealed

Scientists have uncovered a genetic link specific to the risk of childhood leukaemia.

Study author Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering Cancer Center, said that at the very least the discovery gives us a new window into inherited causes of childhood leukemia.

Offit said that more immediately, testing for this mutation may allow affected families to prevent leukemia in future generations.

The mutation was first observed in a family treated at Memorial Sloan-Kettering of which several family members of different generations had been diagnosed with childhood acute lymphoblastic leukemia (ALL).

A second, non-related, leukemia-prone family cared for at a different hospital was later found to have the same mutation. A series of experiments were conducted confirming that the observed mutation compromised the normal function of the gene, which may increase the risk of developing ALL.

The inherited genetic mutation is located in a gene called PAX5, which is known to play a role in the development of some B cell cancers, including ALL.

The findings have been published in the journal Nature Genetics.

 

Flexible’ microneedle patch to help deliver drug sans jab

An assistant professor has created a flexible microneedle patch, which allows drugs to be delivered directly and fully through the skin.

The new patch can quicken drug delivery time while cutting waste, and can likely minimize side-effects in some cases, notable in vaccinations and cancer therapy.

Leading development of the flexible patch was Lissett Bickford, now an assistant professor and researcher of biomedical engineering and the mechanical engineering, both part of the Virginia Tech College of Engineering.

Microneedle patch technology used on the skin has existed for several years, each patch containing an array of hundreds of micron-sized needles that pierce the skin and dissolve, delivering embedded therapeutics.

Bickford, with her research team, including Chapel Hill graduate student Katherine A. Moga, were able to develop a new flexible microneedle patch that forms to the skin directly – think a regular household bandage – and then fully pierces the skin and dissolves.

Bickford said the softer, more malleable and water-soluble material also allows for more precise control over the shape, size, and composition of the patch, with little to no waste.

The study has been published in the scientific journal, Advanced Materials.

 

TB’s drug resistance mechanism identified

Researchers have completed the genome sequencing of 161 Mycobacterium tuberculosis which cause infectious disease tuberculosis (TB).

To understand the drug resistance mechanism from DNA level, Chinese researchers conducted a comprehensive genome-wide study of 161 M. tuberculosis strains with a broad range of resistance profiles (44 drug-sensitive, 94 MDR and 23 XDR isolates).

In total, they discovered 72 novel genes, 28 intergenic regions (IGRs), 11 nonsynonymous SNPs and 10 IGR SNPs with strong, consistent associations with drug resistance.

Researchers found that the genetic basis of drug resistance is more complex than previously expected. The identification of new drug resistance-associated genes, IGRs and SNPs provides a nearly complete gene set for studying drug resistance TB.

The study has been published online in Nature Genetics.

Soil samples show Richard III suffered from roundworm

Richard III's skeleton as found in the grave

Soil from the pelvis area of Richard III’s skeleton had many roundworm eggs

Richard III suffered from a roundworm infection, a team says.

A soil sample from the region where his infected intestines would have been during life, revealed multiple roundworm eggs.

Richard III was the last Yorkist king of England, whose death at the age of 32 in the Battle of Bosworth effectively ended the Wars of the Roses

Prevalent both in medieval times and in tropical countries today, the roundworm parasite spreads from fecal contamination and can grow up to one foot long.

The work is published in the Lancet journal.

In addition to soil from the pelvis, scientists tested soil from other areas of the grave to see whether the eggs were equally distributed.

“What we found was plenty of roundworm eggs in the sacral soil, where his intestines would have been. There were no parasite eggs of any kind in the skull soil and only very low levels around the grave,” said Piers Mitchell, a medical consultant and researcher at Cambridge University.

“This shows that the significant number of eggs inside the soil must have genuinely been from his intestines and could not have been contamination from soil in the grave.”

Most soil from medieval times is likely to show some contamination as human waste was often discarded from windows onto the ground below.

Medieval farmers also used feces as a crop fertilizer which could also have quickly spread the unwelcome guest.

The eggs were identified by powerful microscopes after they had been separated from the soil using sieves. In the right conditions, the dead eggs can be preserved for hundreds of years due to the robust nature of their cell walls.

Roundworms infest the human digestive tract and use the body as a host to stay alive and reproduce. As they steal their host’s food, an infection could have resulted in malnutrition or death among people who had extremely poor diets.

Today it is thought a quarter of the population still suffer from roundworm, especially in tropical countries with poor sanitation.

Biological anthropologist Dr Piers Mitchell: “Roundworm is spread from faecal contamination of food”

The “king under the car park” was likely to have had an extremely nutritious diet so he may not have noticed many symptoms, apart from a dry cough.

Common parasites

Many medieval people would have suffered from other intestinal parasites present in meat and fish, but there was no evidence of these in the king’s remains.

This suggests that his chefs would have cooked his food very well explained Dr Mitchell.

“Parasites are killed by the thorough cooking of meat, so medieval chefs were perhaps more conscientious than you might otherwise have guessed.”

Jo Appleby, at the University of Leicester who helped uncover Richard III’s skeleton, said that roundworms were very common at the time.

It might seem surprising that Richard – who had a very noble background – was infected with roundworm, but this is something that you can pick up very easily through fecal contamination,” she told BBC News.Richard III graphic

Simon Brooker, at the London School of Hygiene and Tropical Medicine said it was very plausible Richard III had roundworm. He explained that eggs in the pelvic abdominal regions had also been found in other historic sites.

“Where you’ve got a large number of worms combined with poor nutritional intake, the consequences can be quite severe.

“I expect Richard III’s exposure would have been low compared to the people he ruled over. It would have been somewhat of a nuisance rather than having had any severe consequences,” Prof Brooker told BBC News.

In February 2013 a team from the University of Leicester said DNA from the bones matched that of descendants of the monarch’s family. Since then his distant relatives have been granted a review over the decision to bury his remains in Leicester.

Source: BBC News

Unlocking the secrets of the Elephant Man

Photo of Joseph Merrick and his skullThe Elephant Man, Joseph Merrick, was an object of curiosity and ridicule throughout his life – studied, prodded and examined by the Victorian medical establishment. Now, 123 years after his death, scientists believe his bones contain secrets about his condition which could benefit medical science today.

Joseph Merrick began to develop abnormally from an early age, eventually being gawped at by Victorian circusgoers and examined by inquisitive doctors. The cause of his malformed head, curved spine, “lumpy” skin and overgrown right arm and hand has never been definitively explained.

Ironically, it is the medical preservation of Merrick’s skeleton that is now causing the greatest problems in unlocking his body’s secrets.

“The skeleton, which is well over a hundred years old now, is actually very clean,” says Prof Richard Trembath, vice-principal for health at Queen Mary University of London, and the custodian of Merrick’s body.

This represents a significant problem. On a number of occasions over the years the skeleton has been bleached during the preservation process. Bleach is not a good chemical to expose DNA to. It gives us an added problem in trying to extract sufficient quantities of DNA in order to undertake sequencing.”

The hope is, though, that DNA can be extracted which will determine once and for all exactly what genetic condition he suffered from.

There have been several theories. For many years it was thought he had neurofibromatosis type 1, but in more recent years doctors have come to believe he had a condition known as Proteus Syndrome, or possibly a combination of both.

A team of geneticists from Queen Mary University of London, King’s College London, and the Natural History Museum are currently working on techniques to extract DNA from similar age bones which have also been bleached before beginning work on Merrick’s skeleton. They are anxious to keep any further damage to the bones to a minimum.

Bleach is sometimes used in labs to remove traces of DNA, so in many ways it is the worst possible thing to do to bones if the hope is to extract genetic information.

The genetic condition of Richard III’s remains – buried for hundreds of years below a car park in Leicester – is actually better than those of Merrick.

His extreme deformity is obvious from his skeleton, but confined to parts of his body. His skull has large growths of bone at the front of his temple and on the right side.

His right arm and hand is far bigger than his left, which appears normal, and his right femur (upper leg bone) is much bigger and thicker than the left. His spine is also badly curved, causing the whole body to be hunched.

“When Merrick was being formed in his mother’s womb it is highly likely that a genetic alteration occurred, but not until after the sperm and the egg had come together – probably at a stage when there were a number of cells, only some of which have gone on to contribute to his problems,” says Trembath.

The skeleton is kept under lock and key in a small museum in the medical school at the Royal London Hospital, and is not normally on public display. It is the same hospital where Merrick spent his later years as a friend and patient of the prominent Victorian surgeon Frederick Treves, and the place where he died at the age of 27 in April 1890.

According to Treves, Merrick died from a dislocated neck when he lay down to sleep, due to the huge weight of his head.

The team of geneticists extracting the DNA is being led by Dr Michael Simpson from King’s College London. In his lab he has been working on segments of bone to develop new techniques for obtaining genetic information from badly bleached fragments.

The team has been successful in obtaining DNA, but is still working on methods of “cleaning” the badly damaged DNA sufficiently to obtain a complete genetic sequence.

Apart from scientific curiosity in his medical condition, Trembath believes the results could help modern medical science and its knowledge of cell division.

“This is very significant overgrowth of tissue,” he says while examining the growths on the skull. “The understanding of the regulation of cell growth is one of the most fundamental things that we need to understand. It sits behind the development of tumours and we need to understand more about how tumours develop.”

He points out that Merrick himself was keen to help the Victorian doctors with their scientific investigation. More than a century on, the work continues.

“I have a sense that he is an ever willing partner in trying to help us get there. This is one of the most extreme forms of overgrowth that has ever been seen, and so there is a unique opportunity to gain some fundamental insights into human biology, and Merrick knew he was sitting on that kind of information.”

 For more http://www.bbc.co.uk/news/magazine-23863974

Laser-guided surgery finds brain cancer’s boundary

Brain tumour

The edges of the tumour in blue are clear against the green healthy tissue

Laser-guided surgery could improve the odds of removing all of a brain tumor by clearly highlighting its edges, US researchers say.

Surgeons are cautious with brain tumors as removing the surrounding tissue could lead to disability.

A technique, reported in Science Translational Medicine, used a laser to analyze the chemistry of the tissue and show the tumor in a different color.

Brain tumor researchers said it could be an “exciting development”.

Removing a brain tumor is a balancing act – takes too little and the cancer could return, take too much and it seriously affects a patient’s quality of life.

This technique could be an exciting development in visualizing tumor tissue, which is the first step in enhancing removal of disease”

The key knows the boundary of the tumor. Surgeons take sections of the tumor and surrounding tissue and look under a microscope for the differences between the two to find cancer’s edge.

A team at the University of Michigan Medical School and Harvard University has come up with a new way of analyzing the tissue, called SRS microscopy, while it is still in the brain.

A laser is fired at the tissue. However, the beam of light’s properties is changed depending on what it hits. The differing chemistry of a cancerous cell and normal brain tissue mean the laser can show a surgeon the outside edge of a tumor.

Dr Daniel Orringer told the BBC: “Neurosurgery is plagued by a problem, it’s very difficult to see when a brain tumor ends and normal tissue begins.

“If you’re removing a colon cancer you can take 2cm either side with no damage, but in the brain it could disable a patient.

“SRS microscopy allows us to see the margins on a microscopic scale.”

Smelling knife

The method has been tested in mice and on human brain samples, but actual trials in patients are still needed.

This is just the latest in a series of developments aimed at improving surgery. A team at Imperial College London has developed a knife that can detect the “smell” of cancer so it knows if it is cutting through tumor or healthy tissue.

Dr Colin Watts, a Cancer Research UK brain tumor expert at the University of Cambridge, said: “It needs to be tested in a clinical trial, but this technique could be an exciting development in visualizing tumor tissue, which is the first step in enhancing removal of disease.

“A crucial factor will be to ensure that patient safety is not compromised. This technique is particularly exciting because it has the potential for helping us to remove tissue at the tumor/brain interface from where recurrent disease can emerge.

“It will also be interesting to determine if SRS microscopy can be used in tumors that recur after treatment.”

 Source BBC news