Eye Drops Could Treat Age-Related Macular Degeneration

A drop a day might soon keep blindness away. Researchers say they have found a possible treatment for age-related macular degeneration (AMD) — the leading cause of blindness among the elderly — that could be delivered via eye drops.

There currently is no cure for AMD, nor is there a treatment for its most common form, the so-called dry AMD, which affects 90 percent of AMD suffers. The new research, which was conducted in animals, could lead to treatment for people with AMD in the future, the researchers said.

There are two forms of AMD: a “dry” early-stage form characterized by a slow and progressive blurring of central vision, and a “wet” advanced-stage form characterized by further vision loss and the development of blood vessels in the back of the eye that can leak and damage surrounding tissues.

Nearly 2 million Americans ages 40 years and older have poor vision caused by AMD, according to the Centers for Disease Control and Prevention. Worldwide, as many as a third of all people over age 65 have at least some early form of AMD, according to a study published in 2012 in the journal Lancet. Almost all cases of wet AMD develop from dry AMD. [9 Healthy Habits You Can Do in 1 Minute (Or Less)]

Certain antioxidant dietary supplements, such as lutein, initially showed promise in treating AMD, but several large studies found no support for this. So, people with dry AMD can only wait and hope the disease doesn’t progress into debilitating vision loss.

Wet AMD is treated with repeated monthly or bimonthly injections, in the eye, of medication designed to inhibit the formation of new blood vessels, such as the cancer drug bevacizumab (known by its brand name Avastin).

In the new findings, the researchers at Tufts University in Massachusetts led by associate professor of ophthalmology Rajendra Kumar-Singh describe their work as a “proof of concept” study. They demonstrated, in mice, that a chemical called PPADS (short for pyridoxalphosphate-6-azophenyl-2′,4′-disulfonic acid) repairs AMD-induced damage to the eye.

Previous research has shown that AMD is caused in part by high levels of the membrane attack complex (MAC), which is a part of a normal, healthy immune system. The MAC typically forms on the surface of invading bacteria, poking holes through them and destroying them. In people with AMD, however, for reasons not entirely clear, the MAC also targets cells in the retina, killing them and causing a loss of vision.

In the new study, the researchers experimented with PPADS because it is thought to interfere with both MAC formation and new blood vessel growth.

Working with anesthetized mice, the researchers induced tissue damage and blood vessel growth characteristic of AMD. They then applied PPADS daily and, essentially, watched the drug heal the eye damage.

Kumar-Singh told LiveScience that the eye drops that ultimately could be used on people likely wouldn’t use PPADS, but rather a more refined drug.

This research is the first demonstration that a drug can slow the features of dry and wet AMD by topical application — that is, something that could be self-administered as eye drops.

“An ideal therapy would be one that can be self-administered daily by patients,” so that they can avoid uncomfortable injections, Kumar-Singh said.

Robert Mullins, an AMD expert and associate professor of ophthalmology and visual sciences at the University of Iowa, Iowa City, who was not part of the new research, said he was intrigued by the study.

“There is very strong support for the idea that MAC contributes to AMD, and that attenuating MAC could be helpful,” Mullins said.

However, he said that whether MAC is involved in AMD “is still an area of intense study.” If MAC injury is the source of the blood vessel degeneration seen in wet AMD, then local “small-molecule inhibition” as demonstrated with PPADS “holds exciting possibilities,” he added.

Christopher Wanjek is the author of a new novel, “Hey, Einstein!“, a comical nature-versus-nurture tale about raising clones of Albert Einstein in less-than-ideal settings. His column, Bad Medicine, appears regularly on LiveScience.

‘My diagnosis hit me in the face’: readers on living with breast cancer.

The rosy glow of ‘Pinktober‘ is everywhere this month, so we asked Guardian readers how cancer has changed their lives

‘I had chemotherapy during my last two trimesters of pregnancy’

Heidi, breast cancer patientHeidi, 44, Indiana

I was pregnant when diagnosed with breast cancer, and had chemotherapy during my last two trimesters of pregnancy. I’ve had lumpectomies, a mastectomy, reconstruction, oophorectomy, chemotherapy, radiation, and have taken more medicine than I can remember. My son was born healthy, strong and very handsome, in spite of his dangerous start. He is wonderful. Chronic pain and fatigue are constant reminders of my cancer, but knowing I persevered for someone other than myself is the greatest reward.

On ‘Pinktober’: To me, the positive comes from helping other people going through this journey – women, men, children. When one person in a family is diagnosed, they all play a part in what happens after diagnosis. Friends, colleagues or church members all want to help, but are sometimes unsure what to do. I’ve found great comfort in helping people identify those needs.

Also, not all charities actually care about breast cancer patients. Some, horribly, only see cancer as a business model or a strategic plan to help boost product sales or worse, careers. People need to diligently research where their money is going, and if it actually helps patients.

‘Two experiences with breast cancer: my wife’s and my own’

Oliver, breast cancer patientOliver, 47, Houston, Texas

I have two experiences with breast cancer: as caregiver for my wife as she went through treatment six years ago, and my own diagnosis and treatment starting in September 2012. We had near-identical treatments: six months of chemo, mastectomy and then radiation, followed by years of Tamoxifen. Of course the odds of this are small. Sharing this experience has brought us closer in an unexpected way, and we understand each other’s fear of recurrence completely.

On ‘Pinktober’: The stark reality of what breast cancer means to many people gets lost [in awareness campaigns.] The focus is on early stage disease in women, with relatively easy treatment and good outcomes. People are invited to celebrate cancer. For many it is a threat to their well being, even their life. Male breast cancer, metastatic breast cancer, triple negative breast cancer, inflammatory breast cancer and breast cancer in young women all get lost.

‘I tested positive for the BRCA gene mutation’

Lori, breast cancer patientLori, 46, New York, New York

I was diagnosed with breast cancer on 28 March 2011. The tumor was in my left breast and was an invasive ductal carcinoma that was 3.5cm long, Estrogen, Progesterone and HER positive, stage IIB. The only reason I even knew something was wrong was that I had pain in my left breast. I went to the doctor who referred me to a radiologist. I was given a mammogram, an ultrasound and a very, very painful biopsy. After a very long weekend, I was told by phone that I had cancer.

I was presented with three options: a lumpectomy, a single mastectomy, or double mastectomy. The deciding factor would be a test for the BRCA gene mutation, but this would delay any action by at least two weeks. After careful consideration that day, I opted for a double mastectomy. I joked that I had wanted a breast reduction anyway and that it should be a matching pair, but honestly, I had a strong suspicion about how the test would turn out since Ashkenazi (eastern European) Jews, of which I am one, have the highest risk of being a carrier. As it turned out, I was right.

A few nights before the double mastectomy, I decided that the only way to decimate a bully (cancer) is to laugh at it. So I invited my friends to my “Bye Bye Boobies” Party. We spared no insult to the boobies that were making my life hell. A Triple-D red velvet cake, lots of dairy products and a song, set to “Bye Bye Baby” to wish them boobies a long goodbye.

On ‘Pinktober’: It misses the actuality of what breast cancer really is. Pink ribbons infantilize the disease and make it appear to be cute – “Pretty in Pink“. There is nothing about breast cancer that is pretty or pink. More information needs to get out to the public about the genetic factors and environmental factors that cause breast cancer and how we need to address these in a way to put people out of harm’s way.

‘I began to think about this as a journey of silver linings’

Ljuba, breast cancer patientLjuba, 31, Cupertino, California

My breast cancer diagnosis hit me straight in my face. I had given birth to beautiful twin girls nine months prior. Saying that my husband and I had our hands full would be putting it mildly. I got “the call” while being told about a potentially necessary skull surgery for one of my twin daughters. “Do you have some time to talk?” my doctor asked. I knew it before she talked me through the rest. My husband knew just by looking at my face. Talk about curveballs.

Me? Now? I was 31, too young for any routine screening. With two babies and a very aggressively growing tumor. One week it measured at 1cm, three weeks later it was estimated at 4cm. The next couple of weeks revolved around waiting for more tests and appointments, while feeling and seeing the mass in my breast grow. This was my rock bottom. It could only get better from there.

But this is where the unexpected part came in.

My daughter didn’t need the surgery after all and I was referred to one of the best cancer centers in the US. The first word that I heard from my oncologist was “curable”. I was surrounded with a team of doctors, surgeons, nurses, dieticians and genetics specialists. I received my first chemotherapy and suddenly began to think about this as a journey of silver linings. An aggressively growing tumor also meant in my case that it was “hungry” and thus eagerly absorbing the chemo. It was half its size after two treatments. The fast metabolism of a young and otherwise healthy body initially caused the cancer to grow quickly, but on the flip side mastered the task of coping with the side effects of the nuclear cocktails injected into my veins.

I lost my hair and started wearing a wig. Getting ready in the morning became a piece of cake. No endless manoeuvring of styling tools and products – perfect salon hair in seconds. My nails stopped growing and manicures would last for weeks. I had a double mastectomy a month ago and am in the process of plastic reconstruction. I can choose my bra cup size and these babies will never sag – what’s not to like? Sure, there were plenty of “one step forward, two steps back” moments in my journey and I am not at the finish line quite yet, but focusing on maintaining a sense of normalcy in my life (I worked part-time, taking days off for treatment, and most of my colleagues still don’t know of my diagnosis) helped me to get through this. But at the core of everything were the silver linings. They will continue to carry me to the last page of this chapter of my life.

On ‘Pinktober’: While I support awareness initiatives, especially for serious illnesses, breast cancer awareness month here in the US has a slightly foul aftertaste of what we call a Hallmark holiday. Pink ribbons on everything from yogurt to toilet paper. A potentially lethal and devastating disease reduced to a sparkly bumper sticker. And while I am thrilled that a percentage of these funds goes towards research, I can’t get rid of this foul aftertaste.

‘I never had a breakdown cry or questioned why’

Amy, breast cancer patientAmy, 39, Huntsville, Alabama

I found out in April, at age 38, that I had breast cancer. I never had a breakdown cry or questioned why. Surprise! Not even once! It’s not because I’m unaware of how serious cancer is, nor is it because I’m in some denial of what I have or what I could lose. It’s not because I’m especially strong or fearless.

I believe it helps that I look at the entire process through the eyes of acceptance and think about what I’m gaining. I accept that I have cancer and the possible outcomes. I accept that it does not define me. I will gain knowledge and experience from having cancer, as well as gain the ability to display my beliefs and principles, and set a good example for my children and family. I believe the most important life lessons don’t come from easy paths; it’s the struggles that show us what we’re made of.

Cancer throws you into a new world, one that can be consumed by your own existence, pain, and treatment. Finding a way to step outside of yourself and look beyond your own cancer is beneficial. There is good in making time and focusing on others, because someone else always has it worse.

When I look around during any chemotherapy treatment, I see that it could be worse: someone younger, someone older, someone suffering more, someone suffering alone … the list goes on. I have spent every one of my chemo sessions talking to the nurses, doctors and volunteers that come my way. I try to remember something personal about them for when I see them again. I have joked and teased with my chemo buddies and tried to make them laugh and feel better, because often I see how lucky I am when I’m there. I see people of all ages afraid, unsure and worried. I feel fortunate by getting to know someone and find a way to get a smile or laugh out of them, and most of the time I do. That is a gift for me!

Cancer does not define me, how I handle cancer defines me. I am going to keep my crazy positive outlook and feel fortunate that I have the ability to fight cancer.

‘I had to learn to shut out the opinions of other people’

Lana, 52, Denver, Colorado

I had stage two triple negative breast cancer, no metastases. Several friends and family members were mortified that I was going to have chemotherapy. They insisted I should try alternative therapies or homeopathic remedies rather than “put poison in my body”. I know those comments came from a place of fear and love for me, but I soon learned to shut out the opinions of other people and march on with the course of treatment my oncologist told me was the only option to kill “the monster.”

No one really knows what it’s like to have cancer, unless they’ve had cancer. That’s the bottom line. We all do what we have to do, individually, to face it, fight it and move on.

On ‘Pinktober’: There seems to be an ever-growing perception (through marketing messages) that we have control over our bodies and can avoid getting cancer. In turn, that translates to many of us as “if you got breast cancer, you must have done something to get it” – ate too much sugar; had a lousy diet; didn’t exercise, etc. There are many of us out here who did everything right (diet, exercise) and got cancer anyway.

I call it The Cancer Crap Shoot. We don’t carry the identified genes and don’t have a family history. So, I think the emphasis needs to be on empowerment: early detection, learning your risk factors and demanding screening (particularly for women 40 and younger if you are at high risk), and even bypassing traditional diagnostics (going straight to MRI or whole-breast ultrasound if you have dense breast tissue).

Yes, diet and exercise are important, however, other physiological factors have been determined to impact risk and women should be educated about them as well (inflammation; keeping your immune system healthy; learning healthy ways of coping with stress).

‘Damage was done to my brain’

Anne Marie, breast cancer patientAnne Marie, New York, New York 

It has been very difficult for me to accept the limitations caused by whatever damage was done to my brain. I was always super organized and could multitask without any issues. Now, I’m lucky if I pay my bills on time.

Realizing I can’t accomplish half of what I could in the past is disappointing, but the fact that I was forced to change directions from office management to writing has been fulfilling in ways I could not have dreamed possible. I try to focus on the fact that I am doing something I love.

On ‘Pinktober’: Breast cancer research has seen many successes over the past decades. Yet, when it is broken down and really examined, we haven’t made the great strides that are hyped, especially during October as we are strangled by pink ribbons.

Treatment is still barbaric. The fact that early detection doesn’t guarantee the disease won’t spread outside the breast is rarely spoken about. The fact that the death rate is substantially unchanged in over 40 years is another problem. Breast cancer is not the great success story it’s hyped to be, it’s just the one that’s been marketed the best.

Polio Eradication by the Numbers.


Uncovering the tricks of nature’s ice-seeding bacteria

Like the Marvel Comics superhero Iceman, some bacteria have harnessed frozen water as a weapon. Species such as Pseudomonas syringae have special proteins embedded in their outer membranes that help ice crystals form, and they use them to trigger frost formation at warmer than normal temperatures on plants, later invading through the damaged tissue. When the bacteria die, many of the proteins are wafted up into the atmosphere, where they can alter the weather by seeding clouds and precipitation.

Now scientists from Germany have observed for the first time the step-by-step, microscopic-level action of P. syringae‘s ice-nucleating proteins locking water molecules in place to form ice. The team will present their findings at the AVS 60th International Symposium and Exhibition, held Oct. 27 – Nov. 1 in Long Beach, Calif.

“Ice nucleating proteins are the most effective ice nucleators known,” said Tobias Weidner, leader of the surface protein group at the Max Planck Institute for Polymer Research. The proteins jump-start the process of ice crystal formation so well that dried ice-nucleating bacteria are often used as additives in snowmakers.

Although scientists discovered ice-nucleating proteins decades ago, little is known about how they actually work. Weidner and his team tackled the mystery with a powerful tool called spectroscopy that can decipher patterns in the interaction between light and matter to visualize the freezing process in layers of materials only a few molecules thick.

The researchers prepared a sample of fragments of P. syringae bacteria that they spread over water to form a surface film. As the temperature was lowered from room temperature to near freezing levels the scientists probed the interface between the bacterial proteins and the water with two laser beams. The beams combined within the sample and a single beam was emitted back, carrying with it information about how the protein and water molecules move and interact.

By analyzing the returning light beam’s frequency components, Weidner and his colleagues found a surprisingly dramatic result: as the temperature approached zero degrees Celcius the water molecules at the ice-nucleating protein surface suddenly became more ordered and the molecular motions become sluggish. They also found that thermal energy was very efficiently removed from the surrounding water. The results indicate that ice nucleating proteins might have a specific mechanism for heat removal and ordering water that is activated at low temperatures, Weidner said.

“We were very surprised by these results,” Weidner added. “When we first saw the dramatic increase of water order with lower temperatures we believed it was an artifact.” The movements of the water molecules near the ice-nucleating protein was very different than the way water had interacted with the many other proteins, lipids, carbohydrates, and other biomolecules the team had studied.

Recent studies have shown that large numbers of bacterial ice-nucleating proteins become airborne over areas like the Amazon rainforest and can spread around the globe. The proteins are among the most effective promoters of ice particle formation in the atmosphere, and have the potential to significantly influence weather patterns. Learning how P. syringae triggers frost could help teach researchers how ice particle formation occurs in the upper atmosphere.

“Understanding at the microscopic level – down to the interaction of specific protein sites with water molecules – the mechanism of protein-induced atmospheric ice formation will help us understand biogenic impacts on atmospheric processes and the climate,” Weidner said. For a more detailed picture of protein-water interactions it will also be important to combine their spectroscopic results with computer models, he said.

Scorpion venom is a painkiller for the grasshopper mouse | Mo Costandi

Researchers have identified the molecular mechanisms that make the grasshopper mouse resistant to scorpion venom.

Grasshopper mouse

A southern grasshopper mouse approaches and prepares to attack an Arizona bark scorpion. Photo: Matthew and Ashlee Rowe.

The bark scorpion is, according to Wikipedia, the most venomous scorpion in North America, wielding an intensely painful – and potentially lethal – sting that stuns and deters snakes, birds and other predators. People unfortunate enough to have experienced the sting say that it produces an immediate burning sensation, followed by prolonged throbbing pain that can last for hours.

But the grasshopper mouse is completely resistant to the bark scorpion’s venom. In fact, it actively preys upon scorpions and other poisonous creatures. As the film clip below shows, it responds to the bark scorpion’s sting by licking its paw for a second or two, before resuming its attack, then killing and eating the scorpion, starting with the stinger and the bulb containing the venom. Researchers have now established exactly why this is – paradoxically, the venom has an analgesic, or pain-killing, effect on the grasshopper mouse.

The animal’s secret lies in two proteins, the sodium channels Nav1.7 and Nav1.8, which are found in a subset of sensory nerve fibres called nociceptors. These cells express numerous other proteins that are sensitive to damaging chemicals, excessive mechanical pressure, and extremes in temperature, and have fibres that extend from just beneath the skin surface into the spinal cord.

The sensor proteins relay these signals to Nav1.7 and Nav1.8, which then change their structure in response, so that their pores, which span the nerve cell membrane, open up, allowing sodium ions to flood into the cell. This causes the nociceptors to generate nervous impulses, which are transmitted along the fibre into the spinal cord. From there, the signals are relayed to second-order sensory neurons, which then carry the signals up into the brain, where they are interpreted as pain.

Ashlee Rowe of the University of Texas in Austin and her colleagues started off by injecting scorpion venom, formaldehyde and salt water into the hind paws of southern grasshopper mice and common house mice, and compared their behavioural responses.

The house mice licked their paws furiously for several minutes after being injected with venom or formaldehyde, but not when they were injected with salt water. By contrast, the grasshopper mice seemed completely oblivious to the venom, and barely licked their paws at all after being injected with it. They found the formaldehyde to be far more irritating, and the venom actually reduced the amount of time they spent licking their paws when the two were injected together.

Next, the researchers isolated sensory neurons from both types of mice and grew them in Petri dishes. They then added scorpion venom to the dishes and used microelectrodes to measure the electrical activity of the cells. This showed that the venom strongly activated cells from the house mice, making them fire with rapid bursts of nervous impulses, but actually prevented cells from the grasshopper mice from firing. Further investigation revealed that the scorpion venom directly binds to, and potently inhibits, Nav1.8 sodium channels from the grasshopper mice, but not the house mice.

Rowe and her colleagues performed a final series of experiments to determine how this happens at the molecular level. They sequenced the Nav1.8 gene from the grasshopper mouse, and compared it to that of the common mouse, to identify multiple DNA sequence variations that confer insensitivity to scorpion venom. All the mutations encode amino acid residues in or around the pore region of the Nav1.8 protein, replacing neutral residues with acidic ones that are attracted to water.

As a result of these tiny structural changes, scorpion venom binds to Nav1.8 and switches it off, perhaps by plugging the pore or making it impermeable to sodium ions in some other way, thus blocking the transmission of pain signals into the spinal cord.

The researchers confirmed the importance of the pore region by using genetic engineering to replace this segment of the common mouse gene with the corresponding segment from the grasshopper mouse gene. This made the resulting protein resistant to the venom, whereas substituting the pore DNA sequence in the grasshopper gene with that from the common mouse gene rendered it highly sensitive to the venom.

The ability to detect pain is critical for survival, as it alerts organisms to potentially life-threatening injuries. Venomous creatures have capitalised on this, by evolving neurotoxins that inflict pain by activating nociceptors in one way or another, thus detering would-be predators from attacking again. The grasshopper inhabits the deserts of North America and Mexico, and probably evolved resistance to venom as a physiological adaptation, which enabled it to eek out an existence in such an extreme environment by feasting on venomous prey.

Previous work has identified Nav1.7 as a key player in pain signalling, and researchers have identified a number of rare mutations in the gene encoding it, which make people either completely or partially insensitive to pain. Drugs that block Nav1.7 activity could therefore be effective pain-killers, and various research groups have been researching and developing such drugs. The new findings identify Nav1.8 as another potential target, and provide another potential route for the development new analgesic drugs.

Faces are sculpted by ‘junk DNA’

Scientists have identified thousands of regions in the genome that control the activity of genes for facial features.

Smiling child

‘Transcriptional enhancers‘ switch genes on or off in different parts of the face. Photograph: Rex Features

Researchers have started to figure out how DNA fine-tunes faces. In experiments on mice, they have identified thousands of regions in the genome that act like dimmer switches for the many genes that code for facial features, such as the shape of the skull or size of the nose.

Specific mutations in genes are already known to cause conditions such as cleft lips or palates. But in the latest study, a team of researchers led by Axel Visel of the Lawrence Berkeley National Laboratory in Berkeley, California, wanted to find out how variations seen across the normal range of faces are controlled.

Though everybody’s face is unique, the actual differences are relatively subtle. What distinguishes us is the exact size and position of things like the nose, forehead or lips. Scientists know that our DNA contains instructions on how to build our faces, but until now they have not known exactly how it accomplishes this.

Visel’s team was particularly interested in the portion of the genome that does not encode for proteins – until recently nicknamed “junk” DNA – but which comprises around 98% of our genomes. In experiments using embryonic tissue from mice, where the structures that make up the face are in active development, Visel’s team identified more than 4,300 regions of the genome that regulate the behaviour of the specific genes that code for facial features.

The results of the analysis are published on Thursday in Science.

These “transcriptional enhancers” tweak the function of hundreds of genes involved in building a face. Some of them switch genes on or off in different parts of the face, others work together to create, for example, the different proportions of a skull, the length of the nose or how much bone there is around the eyes.

“If you think about face development, a gene that is important for both development of the nose and the mouth might have two different enhancers and one of them activates the gene in the nose and the other just in the mouth,” said Visel.

“Certainly, one evolutionary advantage that is associated with this is that you can now change the sequence of the nose or mouth enhancers and, independently, affect the activity of the gene in just one structure or the other. It may be a way a way that nature has evolved in which you can fine-tune the expression of genes in complex ways without having to mess with the gene itself. If you destroy the protein itself that usually has much more severe consequences.”

In further experiments to test their findings, the scientists genetically engineered mice to lack three of the enhancers they had identified. They then used CT (computed tomography) scanning to build 3D images of the resulting mouse skulls at the age of eight weeks.

Compared with normal mice, the skulls of the modified mice had microscopic, but consistent, changes in the length and width of the faces, as expected. Importantly, all of the modified mice only showed subtle changes in their faces, and there were no serious harmful results such as cleft lips or palates.

Though the work was done in mice, Visel said that the lessons transfer across to humans very well. “When you look at the anatomy and development of the mouse versus the human, we find that the faces are actually very similar. Both are mammals and they have, essentially, all the same major bones and structures in their skulls, they just have a somewhat different shape in the mouse. The same genes that are important for mouse face development are important in humans.”

Visel said that the primary use of this information, beyond basic genetic knowledge, would be as part of a diagnostic tool, for clinicians who might be able to advise parents if they are likely to pass on particular mutations to their children.

Peter Hammond, a professor of computational biology at University College London‘s Institute of Child Health, who researches genetic effects on facial development, said understanding how faces develop can be important for health.

“There are many genetic conditions where the face is a first clue to diagnosis, and even though the facial differences are not necessarily severe the condition may involve significant intellectual impairment or adverse behavioural traits, as well as many other effects,” he said. “Diagnosis is important for parents as it reduces the stress of not knowing what is wrong, but also can be important for prognosis.”

The technology to go beyond diagnosis and make precise corrections of the genome does not yet exist and, even if it did, it is not clear that changing genes or enhancers to create “designer” faces would be worthwhile. “I don’t think it would be desirable to even attempt that. It’s certainly not something that motivates me to work on this,” said Visel. “And I don’t think anyone working in this field would seriously view this as a possible motivation.”

How can non-scientists influence the course of scientific research? | Cath Ennis

Science communication should be more than the dissemination of results to the public; it should also flow in the other direction, with members of the public able to communicate their priorities to scientists and those who fund them. But how?

A researcher in biosafety protective gear

Scientists don’t conduct their research in isolation from society – at least, not all scientists, all of the time. Photograph: US Army Medical Research Institute of Infectious Disease

Scientific research has an enormous impact on modern society, with its effects felt in many aspects of our lives. But scientists are also part of that society, and can adapt their research topics and methods to reflect its ever-changing priorities. All too often, though, these priorities are dictated by governments or by the private sector, while the views of members of the public aren’t heard. However, it’s certainly possible for interested individuals to influence the course of scientific research.

Follow the (grant) money

Science is a constant cycle of applying for grants to generate data to publish in manuscripts that form the basis of the next grant application. Success rates vary enormously depending on the country and the field, among other factors, but are generally low – 10-20% wouldn’t be at all unusual. As such, the agencies that allocate research funding have more influence over trends in scientific research than any other entity. They can set aside funds for research in specific fields; they can favour one kind of research over others (eg basic versus applied research); they can favour certain methods, or types of research institution; they can decide to rank grant applications on criteria other than the quality of the scientific question and approach.

On the latter point, there’s a trend toward making funded scientists more accountable to society. For example, Genome Canada and its regional affiliates require all grant applicants to complete a lengthy section describing how their proposed project encompasses research on “genomics and its related ethical, environmental, economic, legal and social aspects” (GE3LS); the reviewers’ scores for this section can make or break an application’s success. In the US, applicants to the National Science Foundation (NSF) have to complete a “Broader Impacts” section that’s judged on criteria that include the investigator’s plan for “improved STEM [Science, Technology, Engineering and Mathematics] education and educator development at any level; increased public scientific literacy and public engagement with science and technology; improved well-being of individuals in society”. Other funding agencies have similar criteria.

(Should scientists be thinking about and doing these things anyway? Yes, of course, and many do – but many don’t, due to lack of time, resources, training, and/or interest, and some won’t ever consider these ideas unless their funding depends on it).

So how can individuals communicate their opinions and priorities to funding agencies?

A lot of support for scientific research (most or even all of it, in some fields) comes from national and local governments and is taxpayer-funded. Major players include the seven Research Councils in the UK; the Tri-Council Agencies in Canada; and the National Institutes of Health Research and National Science Foundation in the US. If you have an opinion about the research types, topics, or methods your government should be funding, or about the need for funded scientists to demonstrate commitment to public outreach or any of the factors encompassed by E3LS research, you can direct it (in order of decreasing likelihood of impact) to your science minister or equivalent, local representative, or prime minister/president.

If you think your opinion will be shared by many others, some governments have websites where you can create a petition. The government is obliged to issue some kind of response (even if it’s an official “thanks, but no thanks”) to petitions with a certain number of signatures (currently 100,000 in both the UK and the US).

Non-government sources of research funding include private sector companies and charitable organisations. No one outside the companies in question is likely to have any chance of influencing the former, but the latter – mostly medical research charities that focus on a specific disorder or group of disorders – do listen to donors. Some allow donations to be directed towards specific topics or types of research; others can be persuaded by direct communications from donors.

Some funding agencies also directly involve members of the public in grant review – for example, the government-funded UK NHS National Institute for Health Research and Canadian Institutes of Health Research recruit lay or community reviewers, as do many charities. A lay reviewer’s opinion on the importance of the proposed research is unlikely to make or break an applicant’s success (although this is certainly possible), but their broader feedback to the funders may have more of an effect, especially for smaller organisations.


The crowdfunding model exemplified by Kickstarter, in which investors can browse business and creative pitches and contribute money to help develop a new product or service, is starting to gain some traction in the research community (see articles in the journal Nature from January 2012 and May 2013). Sites specific to scientific research, including Petridish and Microryza, have sprung up, and host requests for funding from investigators in a variety of fields, from all over the world. Donors may be offered incentives such as early access to research findings, or direct participation in the research.

I don’t believe crowdfunding will be an eventual replacement for current sources of research monies – government and charitable funding, and (most importantly) peer review, should and will remain an essential component of scientific research. Besides, research in my field (genomics) and many others is far too expensive to be supported by individual small-scale donations. However, a crowdfunded project can be perfect for early-career researchers, pilot studies, research ideas outside the mainstream, and other niches. These projects can provide the crucial preliminary data required by mainstream funding agencies, to demonstrate the validity of the approach and the idea, and thereby have the potential to launch much larger studies. One high-impact paper in a new area can even initiate a whole new sub-field, magnifying the influence of any individual donor’s money.

In conclusion, there are a number of ways in which members of the public can communicate their opinions and priorities to scientists and those who fund them, none of which necessitate pitchforks and flaming torches. Money talks, but so do time, effort, and votes – so get cracking, and good luck!

The ideas in this post originated and evolved from an impromptu session I led at this year’s Vancouver Change Camp about what responsibilities science owes to society, and vice versa. Many thanks to all the participants for a fascinating discussion, and especially to Sara Mimick for her support on the day.

Free vitamins for all under-fives advised by chief medical officer

Vitamin pills

All under-fives may be offered free vitamins on the NHS in an effort to curb the rising tide of illness, such as rickets, linked to them getting too little vitamin D.

Dame Sally Davies, the government’s chief medical officer, wants ministers to consider extending the offer from low-income families to all children under the age of five.

She has asked the National Institute of Health and Care Excellence (NICE) to investigate whether giving all children in that age group vitamins A, C and D, in the form of drops or tablets, would be cost effective.

Davies said the return of rickets, and the implication of vitamin D in other ill-health, meant that offering every family with under-fives free vitamins was necessary.

She pointed to a scheme in Birmingham in which universal access to vitamins is credited with halving the number of cases of rickets in the city.

As many as 40% of young children do not get enough vitamin D, said Davies, as she launched her annual report into children’s health and the state of NHS physical and mental health services for children.

The number of under-18s who have been admitted to hospital in England for rickets soared from 190 in 2002-03 to 748 in 2011-12, NHS figures show.

Hilary Cass, president of the Royal College of Paediatrics and Child Health, welcomed Davies’ initiative but cautioned that take-up of free vitamins under the Healthy Start programme had been less than 10%, according to a study in 13 NHS trust areas published in May. It offers the vitamins to people on low incomes and to pregnant women.

However, she added: “Widespread supplementation is already happening in some countries and should certainly be looked at in the UK.

“We are seeing a growing number of cases of vitamin-D related illnesses amongst children and young people, and supplementation is a key way of getting the required amount.

“Of course we need to see how cost effective it would be to offer these vitamins free to everyone; but quite often the benefits outweigh the costs.”

Seizures and developmental delay in babies are also associated with a lack of vitamin D, which is obtained naturally from sun on the skin and certain foods, such as eggs and oily fish.

Claire Lemer, editor of the report, said: “There is no single reason why parents do not give their children vitamins.

“It could be due to a range of reasons – from not being aware of their benefits to them not being easily accessible.

“But we do know from studies that making vitamins available to all can lead to a boost in families taking up the offer.”

Metabolism ‘obesity excuse’ true

Obese child

The mocked “obesity excuse” of being born with a slow metabolism is actually true for some people, say researchers.

A team at the University of Cambridge has found the first proof that mutated DNA does indeed slow metabolism.

The researchers say fewer than one in 100 people are affected and are often severely obese by early childhood.

The findings, published in the journal Cell, may lead to new obesity treatments even for people without the mutation.

Scientists at the Institute of Metabolic Science, in Cambridge, knew that mice born without a section of DNA, a gene called KSR2, gained weight more easily.

It slows the ability to burn calories and that’s important as it’s a new explanation for obesity”

Prof Sadaf Farooqi University of Cambridge

But they did not know what affect it may be having in people, so they analysed the DNA of 2,101 severely obese patients.

Some had mutated versions of KSR2.

It had a twin effect of increasing their appetite while their slowing metabolism.

“You would be hungry and wanting to eat a lot, you would not want to move because of a slower metabolism and would probably also develop type 2 diabetes at a young age,” lead researcher Prof Sadaf Farooqi told the BBC.

She added: “It slows the ability to burn calories and that’s important as it’s a new explanation for obesity.”

Munching on chips
The mutation delivers a double-whammy by increasing the drive to eat and reducing calorie burn

KSR2 is mostly active in the brain and it affects the way individual cells interpret signals, such as the hormone insulin, from the blood. This in turn affects the body’s ability to burn calories.

Prof Farooqi said the metabolism argument had been derided by doctors, as well as wider society, due to a lack of evidence that metabolism was slowed in obese patients. In many cases obese patients have an elevated metabolism to cope with fuelling a much larger body.

She said less than 1% of people had mutated versions of the gene and some would be a normal weight, but about 2% of children who were obese by the age of five would have the mutated gene.

However, if drugs could be developed to target problems with KSR2, then it might be beneficial to anyone who is too fat.

“Other genetic disorders, such as in blood pressure, have shown that even where there’s a normal gene, targeting the pathway can still help,” Prof Farooqi said.

The amount and types of food eaten, as well as levels of exercise, directly affect weight, but some people at more risk of becoming obese that others.

Obesity can run in families. The other obesity genes that have been discovered tend to affect appetite.

People have two copies of the FTO gene – one from each parent – and each copy comes in a high- and a low-risk form. Those with two-high risk copies of the FTO gene are thought to be 70% more likely to become obese than those with low-risk genes.

It makes fatty foods more tempting and alters levels of the hunger hormone ghrelin.

Dr Katarina Kos, from the University of Exeter Medical School, said: “It is an exciting and interesting breakthrough, this is a new pathway predisposing people to obesity.

“But it does exist in obese and lean people so you still need the obesogenic environment.”

First venomous crustacean found

The remipede‘s venom contains a complex cocktail of toxins

Experts have found the first venomous crustacean – a centipede-like creature that lives in underwater caves.

The blind “remipede” liquefies its prey with a compound similar to that found in a rattlesnake’s fangs.

It lives in underwater caves of the Caribbean, Canary Islands and Western Australia, feeding on other crustaceans.

The venom contains a complex cocktail of toxins, including enzymes and a paralysing agent.

The findings are detailed in the journal Molecular Biology and Evolution.

The remipede (Speleonectes tulumensis) breaks down body tissues with its venom and then sucks out a liquid meal from its prey’s exoskeleton.

Liquid lunch

Co-author Dr Ronald Jenner, a zoologist at London’s Natural History Museum said: “The unique insights from this study really help improve our understanding of the evolution of animal venoms.

“The spider-like feeding technique of the remipede is unique among crustaceans. This venom is clearly a great adaptation for these blind cave-dwellers that live in nutrient-poor underwater caves.”

Search for remipedes
The crustaceans are found in underwater caves of the Caribbean, Canary Islands and Australia

Crustaceans are a large group of the wider category of animals known as arthropods. They include shrimp, krill, lobsters and crabs.

Most are aquatic, but a few – such as woodlice – live on land.

Dr Bjoern von Reumont, also from the Natural History Museum commented: “This is the first time we have seen venom being used in crustaceans and the study adds a new major animal group to the roster of known venomous animals.

“Venoms are especially common in three of the four major groups of arthropods, such as insects. Crustaceans, however, are a glaring exception to the rule.

“While they can be as varied as tiny waterfleas, krill, crabs and barnacles, not one of the approximately 70,000 described species of crustaceans was known, until now, to be venomous.”