Synopsis: Health: Illness:

and Extra Copies of Disease Gene in Alzheimer s Brain cells The surprise discovery offers a new understanding of Alzheimer s disease.

Scientists at The Scripps Research Institute (TSRI) have found diverse genomic changes in single neurons from the brains of Alzheimer s patients pointing to an unexpected factor that may underpin the most common form of the disease.

and Alzheimer s disease#said Jerold Chun professor at TSRI and its Dorris Neuroscience Center and senior author of the new study.

Alzheimer s disease is an irreversible brain disease that tends to strike older people. It is progressive#impairing memory destroying motor skills and eventually causing death.

The U s. Centers for Disease Control and Prevention estimates 5. 3 million Americans currently have Alzheimer s disease

Researchers have known long about disease-related protein accumulations (called amyloid plaques) in the brains of Alzheimer s patients.

They#ve also known that chromosome 21 plays a role in the disease due to Alzheimer s-like symptoms in people with Down syndrome (with three copies of chromosome 21.

Remarkably the researchers found that more than 90 percent of sporadic Alzheimer s disease brains displayed highly significant DNA increases of hundreds of millions more DNA base-pairs compared with control samples showing that genomic mosaicism was altered in the Alzheimer s brain.

The tests showed that neurons from patients with sporadic Alzheimer s disease were four times as likely to contain more than the normal two copies of APP with some Alzheimer s neurons containing up to 12 copies of APP a phenomenon never seen in the controls.#

so to be able to connect it with a disease is really interesting#said Gwen Kaeser a graduate student studying in Chun#s lab and co-first author of the study with former graduate student Diane Bushman.

because the genomic signatures of sporadic Alzheimer s disease occur within individual brain cells. Indeed a majority of major brain diseases are also sporadic.

For example amyotrophic lateral sclerosis (ALS) can be linked to a gene in one to two percent of cases

Chun believes genomic mosaicism could possibly have a role in other brain diseases. Future studies in the Chun lab will investigate the relationship between mosaicism

and disease the causes of mosaicism and potential new disease drug targets present in the millions of extra base-pairs found in single Alzheimer s disease neurons.

In addition to Chun Kaeser and Bushman other authors of the study#Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer s disease brains#were Jurgen

Full open access research for#Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer s disease brains#by Diane M Bushman

In this study we report altered genomic mosaicism in single sporadic Alzheimer s disease (AD) neurons characterized by increases in DNA content and amyloid precursor protein (APP) gene copy number.

or understand how cancer cells are organized in a metastasizing tumor, or how immune cells are configured in an autoimmune attack,

other possible applications for this technique include studying tumor metastasis and angiogenesis (growth of blood vessels to nourish a tumor),

or visualizing how immune cells attack specific organs during autoimmune disease i

#Gene Breakthrough Sparks Fear of Homemade Morphine Scientists on Monday said they had unlocked a pathway for producing opiates from genetically engineered yeast

but feared the discovery could one day be a bonanza for drug lords. Other experts agreed, saying anyone with basic skills could use such a yeast to churn out morphine,

The device taking this fantastic electronic voyage may soon be able to zap tumors, repair damaged spinal cords or even connect parts of the brain like an artificial synapse.

and mesh combination is so small and bendy that it doesn cause any damage to the surrounding brain tissue, something that often plagues surgical procedures done with a needle, knife or other type of probe.

#Brain-Sensing Headband Helps Users Manage Stress Technology and relaxation don always go hand in hand. However, a brain-sensing headband that reads brain waves

and manage stress. The Muse headband is lined with seven EEG sensors that detect the brain electrical activity

Users are asked then to participate in a three-minute guided exercise that aims to reduce stress, calm anxiety and increase focus and concentration.

Imagine someone being treated for diabetes. You want to make sure they have the right medication. n an interconnected world where smartphones

which is used to treat hepatitis. The law enforcement has to ship it by express mail to a lab that then has to process the drug and run a series of tests.

#'Dog Nose'Light Sniffs Out Disease Here a riddle: What kind of light can smell? Answer:

breath for disease. Gold nanoparticles Could Detect Disease: Discovery Newsprevious studies have shown that diseases such as lung and esophageal cancer,

asthma and diabetes can be all be detected in the breath. Using light to smell might be a little counterintuitive,

but stick with us for a moment. Anstie and his team shine the laser onto a sample of gas.

Since each molecule in the universe absorbs light at different optical frequencies, an odor has its own unique signature. ather than sniffing out a variety of smells as a dog would,

Disease Detection Goes Mobilee now have a robust system to be able to detect the presence and concentrations of molecules in a sample,

Dr. Bruce Conklin, a stem cell biologist at the Gladstone Institute of Cardiovascular disease in San francisco, along with colleagues developed these tiny hearts using stem cells derived from skin tissue.

#Lab on a chip turns smart phones into mobile disease clinics Smart phones can pay our bills,

Soon they may become a leading weapon in the global fight against disease. Researchers have designed a cheap,

easy-to-use smart phone attachment (shown above) that can test patients for multiple deadly infectious diseases in 15 minutes.

several detection zones snag any antibodies in the blood that reveal the presence of a particular disease.

and active and latent forms of syphilis. Compared with gold standard laboratory tests, the dongle was 96%as accurate in detecting infections,

missing just one case of latent syphilis, the team reports online today in Science Translational Medicine.

Despite a 14%false alarm rate, the researchers say the device high sensitivity and ease of use make it a powerful tool for diagnosing these deadly diseases in the field,

particularly among pregnant women. The researchers are now preparing a larger scale trial for the $34 device,

and health workers provide rapid and reliable disease screening in the remotest areas of the world r

a previously unknown bacterium that makes a compound with infection-killing abilities. What more, the team claims in a report out today,

it would be needed a much weapon against several increasingly hard-to-treat infections. Many existing antibiotics, including penicillin,

the team let each of them duel in a lab dish with Staphylococcus aureus, a cause of serious skin and respiratory infections.

including many human pathogens. Moreover, these pathogens failed to develop resistance to the compound: There were no surviving individuals that had evolved to withstand its attack.

Resistance usually develops when a small percentage of microbes escape an antibiotic because of a mutation

But the authors suggest it could be of great value to people fighting MRSA, tuberculosis,

and infections with rare-but-nasty Enterococcus bacterial strains that aren responding to available drugs.

#'Superspreading event'triggers MERS explosion in South korea SEOULUTHORITIES in South korea are scrambling to contain an outbreak of the deadly Middle Eastern respiratory syndrome (MERS.

Scientists are wondering how a single imported case could have led to so many secondary infections. The outbreak started

but the disease has never spread to more than a few other people, and the general consensus has been that MERS does not spread easily from human to human

The early phase of the disease, just after hospitalization and when symptoms are getting worse,

Yet in similar situations, hundreds of exposed contacts did not develop the disease, says Peter Ben Embarek, the point person on MERS at the World health organization (WHO).

is a lapse in infection control measures at the hospital, Ben Embarek says. The SARS virus,

which is distantly related to MERS, is known to have spread widely in 2003 when tubes were placed in patients'airways for mechanical ventilation,

or Koreans may be more susceptible to the disease than other populations, Ben Embarek says. One important piece of evidence will be the genetic sequence of the virus. Ben Embarek says Korea has agreed to share samples with several labs working on MERS,

None of those quarantined or under surveillance in Hong kong and China have showed any signs of illness so far.

#New test could reveal every virus that's ever infected you Can remember every viral infection youe ever had?

but for developing vaccines and studying links between viruses and chronic disease. his is really a technical tour de force,

But others point out that it's unclear how many past infections the new technology misses. Now

researchers wondering whether a patient has a particular viral infectionrom herpes and flu to the AIDS virusest blood samples for one pathogen at a time.

Many tests look for antibodies, proteins the immune system produces to recognize invaders, while others hunt for the virus own genetic material.

or absence of longer-lasting antibodies that can linger for decades after an infection. Researchers led by biologist Stephen Elledge of Brigham

and Women's Hospital in Boston and Harvard Medical school wanted to develop a test that could look at every current or past infection in one fell swoop.

and old or those with a disease and those withoutnd see whether there a difference in their viral histories.

whether viral infections can trigger diabetes or chronic fatigue syndrome. Elledge and colleagues used Virscan on more than 500 people from the United states

most people had antibodies for about 10 previous viral infections, although those with HIV and who lived outside the United states averaged more.

Surprisingly, many people had generated the exact same antibodies to infections; researchers believed people's immune responses to be more diverse,

which cause large numbers of intestinal infections. This could be because antibodies for these viruses don stick around for

or pathogens youe fought in your lifetime and what signatures of those infections remain, the results of this paper wouldn be a surprise."

"The technology's real value lies in the new questions scientists can answer, he says."

but Elledge hopes it won't cost much more than existing tests that only look at one pathogen at a time.

if you have any new infections, he says. This could help diagnose viruses like hepatitis C

which people often don know they have u

#Glowing diamonds make great thermometers Diamonds are known for many things: hardness, luster, and their reputation for being a irl best friend.

a cancer biologist at the University of Texas Southwestern Medical center in Dallas. Researchers have used magnets before to levitate whole creatures,

which could allow clinicians to spot rare circulating tumor cells in a patient sample. The device could also distinguish red blood cells from white blood cells,

and a sign that a patient is prone to infection. Traditional methods for sorting cells rely on fluorescent molecular tags,

Researchers could identify which individual cellsrom a tumor or a strain of bacteriaurvive a drug treatment and study them further, something that's not possible with current culture-and-stain tests,

ß2 microglobulin (B2m), an immune protein normally involved in distinguishing one own cells from invading pathogens.

B2m has also been found at increased levels in patients with Alzheimer disease and other cognitive disorders.

say, within cancerous tumors u

#Eye drops could dissolve cataracts Cataracts cloud the eyes of tens of millions of people around the world and nearly 17.2%of Americans over the age of 40.

Currently, the only treatment is surgeryasers or scalpels cut away the molecular grout that builds in the eye as cataracts develop,

and surgeons sometimes replace the lens. But now, a team of scientists and ophthalmologists has tested a solution in dogs that may be able to dissolve the cataract right out of the eye lens.

And the solution is itself a solution: a steroid-based eye drop. Though scientists don fully understand how cataracts form,

they do know that the ogoften seen by patients is a glob of broken proteins,

causing the signature teamy glassvision that accompanies cataracts. Coming up with a solution other than surgery has been tough.

Her team came up with the eye drop idea after finding that children with a genetically inherited form of cataracts shared a mutation that stopped the production of lanosterol, an important steroid in the body.

the adults produced lanosterol and had no cataracts. So the researchers wondered: What if lanosterol helped prevent

or reduce cataracts? The team tested a lanosterol-laden solution in three separate experiments. First, they used human lens cells to test how effectively lanosterol shrank lab models of cataracts.

They saw a significant decrease. Then, they progressed to rabbits suffering from cataracts. At the end of the 6-day experiment, 11 of 13 rabbits had gone from having severe or significant cataracts to mild cataracts or no cataracts at all.

Finally, the team moved on to dogs, using a group of seven, including black Labs, Queensland Heelers,

and Miniature pinschers with naturally occurring cataracts. The dogs responded just as the researchers hoped to the lanosterol solution,

which was given in the form of both eye injections and eye drops. The dogslenses showed the same type of dissolving pattern as the human and rabbit lens cells.

The improvement was remarkableesearchers could tell just by looking at the dogseyes that the cataracts had decreased.

He has been investigating cataract proteins since 2000. hey discovered the phenomena and then followed with all of the experiments that you should dohat as biologically relevant as you can get. uben Abagyan,

says immunologist Richard Koup, deputy director of the Vaccine Research center at the National Institute of Allergy and Infectious diseases (NIAID) in Bethesda, Maryland,

says immunologist Jake Estes of the Frederick National Laboratory of the National Cancer Institute (a sister of NIAID) in Frederick,

or antiretroviral (ARV) drugs. eservoirsof infected cells that hold latent provirus are a key reason why powerful combinations of ARVS cannot eliminate infections and cure people.

HIV/AIDS researchers working to cure the infection face several obstacles that these new scopes could help overcome.

whether an intervention aimed at curing the infection is working. Several techniques exist to measure changes in reservoirs,

The worst-case scenario is the Kessler syndrome proposed by astrophysicist Donald Kessler in the 1970s.

JAXA today cancelled the planned launch of Epsilon due to an abnormality detected 19 seconds before the planned lift off at 1. 45 pm local time.

MIT has a strong record of applying interdisciplinary approaches to large-scale problems from energy to cancer.

Such particles could help scientists to track specific molecules produced in the body monitor a tumor s environment

Future versions of the particles could be designed to detect reactive oxygen species that often correlate with disease says Jeremiah Johnson an assistant professor of chemistry at MIT and senior author of the study.

You may be able to learn more about how diseases progress if you have imaging probes that can sense specific biomolecules Johnson says.

These particles could also be used to evaluate the level of oxygen radicals in a patient s tumor which can reveal valuable information about how aggressive the tumor is.

We think we may be able to reveal information about the tumor environment with these kinds of probes

and obtain real-time biochemical information about disease sites and also healthy tissues which is not always straightforward.

which should provide a highly useful diagnostic tool with real potential to follow disease progression in vivo says Bottle who was involved not in the study.

The research was funded by the National institutes of health the Department of defense the National Science Foundation and the Koch Institute for Integrative Cancer Research h

Increased speed and higher voice tones for example are strong indicators of high stress levels. Readers placed around an office collect the data and push it to the cloud.

A study with Cornell University in 2013 for instance allowed the startup to prove that it could accurately predict high levels of cortisol in someone s saliva an indicator of high stress based on their tone of voice.

or to detect inflammation from irritable bowel disease. These engineered bacteria could also be used as biological computers Lu says adding that they would be particularly useful in types of computation that require a lot of parallel processing such as picking patterns out of an image.

whether a certain disease marker is expressed or whether a neuron is active at a certain time.

In recent years the microbiome has attracted increasing attention for its role in health and disease.

and techniques for treating diseases and conditions linked to an altered microbiome.##Today low-cost genetic sequencing

Disease at MGH. Under their guidance the center will seek to develop a regional ecosystem together with other hospitals universities and research institutions.

The center s initial flagship project will focus on inflammatory bowel disease (IBD. Individuals with IBD which includes conditions such as ulcerative colitis

and Crohn s disease suffer from chronic inflammation of the digestive tract and experience severe diarrhea pain fatigue

and weight loss. IBD is known to have a strong link to the microbiome according to Alm:

and many other diseases in the gastrointestinal tract he says. Our goal is to develop new treatment options personalized to an individual s microbiota

While IBD is the focus of the initial flagship project the center is designed to foster opportunities to explore the impact of the microbiome on systemic autoimmune diseases such as multiple sclerosis Type 1 diabetes arthritis and other disorders such as

autism obesity acne and allergies. The co-directors are presenting their research collaboration this week at an MGH-hosted conference on microbes metabolism and mucosal circuits.

can make towers almost twice as strong to handle stress.)Smith compares the process to today at home installation of rain gutters:

and youe trying to screen for some disease, but you don have a lab with you.

Piggybacking on the fundraising bracelet trend of a few years ago, he sold silicone bracelets, raising $60, 000 to fund research on his brother disease.

#Better chemotherapy through targeted delivery Every year about 100000 Americans are diagnosed with brain tumors that have spread from elsewhere in the body.

These tumors known as metastases are treated usually with surgery followed by chemotherapy but the cancer often returns.

A new study from MIT Brigham and Women s Hospital and Johns hopkins university suggests that delivering chemotherapy directly into the brain cavity may offer a better way to treat tumors that have metastasized to the brain.

Metastatic disease should be sensitive to chemotherapy but systemic chemotherapy has not proven effective because it s not getting to the brain at a high enough dose for a long enough period of time says Cima who is also a member of MIT s Koch Institute for Integrative Cancer Research.

We re showing we get much higher degrees of tumor cell death when we deliver the drug locally.

The paper s other senior authors are Robert Langer the David H. Koch Institute Professor at MIT

To make sure that enough reaches a tumor very large quantities must be given often producing side effects.

For a few types of cancer doctors have developed more targeted approaches. With ovarian cancer the best results are achieved

when drugs are delivered directly into the abdominal cavity. However this is not widely done because it requires implanting a catheter in the patient for 12 weeks

To overcome these delivery issues Cima s lab is working on small implantable devices to deliver drugs for ovarian cancer and bladder disease as well as brain cancer.

TMZ which is a first-line treatment for brain metastasis and gliomas and doxorubicin a common treatment for breast cancer

Zone of influenceworking with mice implanted with tumors similar to human brain metastases the researchers found that TMZ delivered directly to the brain prolonged survival by several days compared with TMZ administered by injection.

They also found higher rates of apoptosis or programmed cell death in tumor cells near the capsules.

This could be valuable information in designing future versions of this treatment for brain tumors or other cancers he adds.

The properties of the drug molecule have to be taken into account in the design of local therapy that s effective says Cima.

Michael Lim an associate professor of neurosurgery at Johns Hopkins says the new approach seems like a promising way to expand the range of treatments available for brain tumors

Although there are still many hurdles to developing this approach to treat human cancer Cima says he believes it is worth pursuing

because so many cancers particularly those of the breast and lung spread to the brain. The researchers are also working on using this approach to precisely deliver drugs to very small regions of the brain in hopes of developing better treatments for psychiatric and neurodegenerative disorders.

White blood cells can find their way to the site of an infection while scar-forming cells migrate to the site of a wound.

But finding ways of guiding artificial materials within the body has proven more difficult. Now a team of researchers at MIT led by Alfredo Alexander-Katz the Walter Henry Gale Associate professor of Materials science and engineering has demonstrated a new target-finding mechanism.

That s the method used by white blood cells for example to locate regions where pathogens are attacking body cells.

For example it could be developed as a method of locating tumor cells within the body by identifying their surface texture perhaps in combination with other characteristics.

#Fast modeling of cancer mutations Sequencing the genomes of tumor cells has revealed thousands of genetic mutations linked with cancer.

However sifting through this deluge of information to figure out which of these mutations actually drive cancer growth has proven to be a tedious time-consuming process.

It s a very rapid and very adaptable approach to make models says Thales Papagiannakopoulos a postdoc at MIT s Koch Institute for Integrative Cancer Research

what their role is in tumor progression. If we can actually understand the biology we can then go in

This approach could be used to study nearly any gene in many different types of cancer the researchers say.

There has to be a functional way of assessing the role of these cancer-gene candidates as they appear in sequencing studies Sanchez-Rivera says.

Cutting out cancer genescrispr originally discovered by biologists studying the bacterial immune system involves a set of proteins that bacteria use to defend themselves against bacteriophages (viruses that infect bacteria.

In this study the researchers focused on a type of non-small cell lung cancer called lung adenocarcinoma

Jacks lab has engineered previously mice that conditionally express the Kras oncogene only in the lung leading them to develop lung adenocarcinoma.

The researchers administered these mice with lentiviruses targeting three different genes allowing them to see how each gene cooperates with Kras to influence tumor growth.

Once the tumors develop the researchers can study how aggressive they are how fast they grow

The researchers found that the mice in this study developed very similar tumors to those seen previously in mice with those genes deleted using traditional methods.

whose role in lung cancer is understood not as well revealed that APC loss also drives tumor progression.

Tumors without that gene became much less differentiated and more similar to embryonic cells. To verify these results the researchers also used mice with APC deleted by traditional methods

and found the same types of tumors. This is#a wonderful new example of the power of the CRISPR approach says Anton Berns a professor of molecular genetics at The netherlands Cancer Institute.

It also comes at the right time. The cancer genome sequence initiative provides us with numerous candidate genes that might modulate tumorigenesis

and we need a rapid method to test their contribution. This is precisely what this methodology provides.

Personalized treatmentsthis system could be used in combination with hundreds of existing mouse strains that have been engineered to express known cancer genes allowing researchers to study more thoroughly the interactions of multiple genes.

and brain to model tumors in those regions the researchers say. This method also offers new ways to seek personalized treatments for cancer patients depending on the types of mutations found in their tumors the researchers say.

They envision using this technique to create mice with tumors carrying the same genetic profile as a patient then testing different drugs on them to see which have the best effect.

This opens up a whole new field of being personalized able to do oncology where you can model human mutations

and start treating tumors based on these mutations Papagiannakopoulos says. The research was funded by the Howard Hughes Medical Institute the Ludwig Center for Molecular Oncology at MIT and the National Cancer Institute u

#Big step in battling bladder disease The millions of people worldwide who suffer from the painful bladder disease known as interstitial cystitis (IC) may soon have a better, long-term treatment option, thanks

to a controlled-release, implantable device invented by MIT professor Michael Cima and other researchers.

Treating the debilitating disease which causes painful and frequent urination that can interrupt daily life currently requires infusing the drug lidocaine into a patient bladder through a catheter.

But Taris now plans to tailor the platform device to carry other drugs into the bladder to treat various diseases,

including bladder cancer. rology hasn gotten really the benefit of improvement in the biotech revolution. This type of technology can revolutionize how we do drug therapy in urology,

whom also had called lesions Hunner lesions, which affect about 10 to 15 percent of IC sufferers.

Usually, doctors cauterize these lesions (which don disappear on their own) while patients are under anesthesia in an operating room.

in our trials, the lesions in those using Liris disappeared after two weeksin five out of six patients,

Last year, Taris began an ongoing focus study specifically on patients with Hunner lesions. ain is a subjective outcome,

ut the disappearance of the Hunner lesions was a purely objective outcome. That objective result,

Taris itself had also become a leading expert in interstitial cystitis. So that helped too. With the Allergan acquisition funds, Taris will further develop the device to deliver drugs for other bladder diseases,

including chemotherapy for bladder cancer whose high recurrence rate is due, in part, to difficulties delivering drugs in a sustained way.

Last year, Taris entered a research collaboration with Astrazeneca to develop novel treatments for bladder cancer. his device is a platform

Cima says. hether it bladder cancer, overactive or underactive bladder any of these indications where you might want to deliver drugs right to the bladder it can do that.

A member of the MIT Koch Institute, Cima is also working on other drug-delivery projects,

such as intraperitoneal chemotherapy delivery to treat ovarian cancer, funded in part by the Bridge Project

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