Synopsis: Domenii: Biotech: Biotech generale:


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Now, as part of a joint international project, a team of young researchers at the Center for Medical Physics and Biomedical engineering at Meduni Vienna has succeeded in identifying the mechanisms the spinal cord uses to control this muscle activity.

explains study author Simon Danner, from the Center for Medical Physics and Biomedical engineering of Meduni Vienna.


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However, in recent years neuroscientists have shown in animal models that it is possible to reverse the debilitating effects of these gene mutations.

whether different gene mutations disrupt common physiological processes. If this were the case, a treatment developed for one genetic cause of autism

Different genes, same consequences Another cause of autism and intellectual disability is the loss of a series of genes on human chromosome 16,

Current research indicates that well over 100 distinct gene mutations can manifest as intellectual disability and autism.


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by removing a biochemical lampthat prevents connections between nerve cells in the brain from growing stronger.

Studies at other institutions have identified mutations in the gene for Syngap associated with autism and intellectual disability.

To see how these mutations affect the protein function the Johns Hopkins research team altered their lab-grown cells

so that they had genes with one of three of these mutations. All three of the disability-associated mutations showed similar effects:

Compared to normal neurons, there was less Syngap in synapses when they were at rest, but activating Camkii did not noticeably change anything. his gives us a much clearer idea of how some Syngap mutations cause problems in the brain,

Huganir says. The findings may one day lead to drugs or other interventions that would lessen the effects of the mutations,

he says. Other authors on the paper are Menglong Zeng and Mingjie Zhang, both of Hong kong University of Science and Technology c


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The study, conducted by an international ALS consortium that includes scientists and clinicians from Columbia University Medical center (CUMC), Biogen idec,

and Hudsonalpha Institute for Biotechnology, was published today in the online edition of Science. he identification of TBK1 is exciting for understanding ALS pathogenesis,

but that they can help pinpoint key biological pathways relevant to ALS that then become the focus of targeted drug development efforts,

said study co-leader David B. Goldstein, Phd, professor of genetics and development and director of the new Institute for Genomic medicine at CUMC.

caused by dozens of different genetic mutations, which wee only beginning to discover. The more of these mutations we identify

the better we can deciphernd influencehe pathways that lead to disease. The other co-leaders of the study are Richard M. Myers, Phd, president and scientific director of Hudsonalpha,

and Tim Harris, Phd, DSC, Senior vice president, Technology and Translational Sciences, Biogen idec. hese findings demonstrate the power of exome sequencing in the search for rare variants that predispose individuals to disease and in identifying potential

especially in the context of precision medicine and whole-genome sequencing.""Industry and academia often do things together,

but this is a perfect example of a large, complex project that required many parts, with equal contributions from Biogen idec.

TBK1 mutations appeared in about 1 percent of the ALS patients large proportion in the context of a complex disease with multiple genetic components, according to Dr. Goldstein.

and now we have shown that mutations in either gene are associated with ALS, said Dr. Goldstein. hus there seems to be no question that aberrations in the pathways that require TBK1

and mouse models with mutations in TBK1 or OPTN to study ALS disease mechanisms and to screen for drug candidates.

said Tom Maniatis, Phd, the Isidore S. Edelman Professor, chair of biochemistry and molecular biophysics,


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senior researcher at the Department of Medical Biochemistry and Biophysics. ut in recent years wee developed much more sensitive methods of analysis that allow us to see which genes are active in individual cells.

The study was carried out by Sten Linnarsson and Jens Hjerling-Leffler research groups at the department of medical biochemistry and biophysics, in particular by Amit Zeisel and Ana Muños Manchado.


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While some recent AD genome-wide association studies (GWAS), which search the entire human genome for small variations,

have suggested that MAPT is associated with increased risk for AD, other studies have found no association.

principal investigator of the Alzheimer Disease Genetics Consortium and a study co-author. n important aspect was the collaborative nature of this work.

Thanks to our collaborators from the Consortium, the International Parkinson Disease Genetics Consortium, the Genetic and Environmental Risk in Alzheimer Disease, the Cohorts for Heart and Aging research in Genomic Epidemiology, decode Genetics and the Demgene cohort,

professor of biological psychiatry at the University of Oslo and a senior co-author. Sudha Seshadri, MD, professor of neurology at the Boston University School of medicine, the principal investigator of the Neurology Working group within the Cohorts for Heart and Aging research in Genomic Epidemiology consortium and a study co-author added:

The recent association of genetic variation in the MAPT gene with AD risk and the emerging availability of tau imaging are now leading to a recognition that perhaps tau changes are key in the pathophysiologic pathway of AD

and quantifying the biochemical effects of therapeutic interventions, said Anders M. Dale, Phd, professor of neurosciences and radiology and director of the Center for Translational Imaging and Precision Medicine at UC San diego and the study senior author e


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About this genetics research Other authors of the report include Kalyan Kondapalli, Jose Llongueras, Vivian Capilla-Gonzalez, Hari Prasad, Anniesha Hack, Christopher Smith and Hugo Guerrero


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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.

This chromosome contains the APP gene which can lead to production of the primary component of the damaging amyloid plaques.

#In 2001 Chun was the first to report that the brain contains many distinct genomes within its cells#much like the colorful tiles in an artist#s mosaic.#


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#Researchers Enlarge Brain Samples Making Them Easier to Image New technique enables nanoscale-resolution microscopy of large biological specimens.

says Ed Boyden, an associate professor of biological engineering and brain and cognitive sciences at MIT. Boyden is the senior author of a paper describing the new method in the Jan 15 online edition of Science.

in biology that right where things get interesting, says Boyden, who is a member of MIT Media Lab and Mcgovern Institute for Brain Research.

And the cast itself is swollen, unimpeded by the original biological structure, Tillberg says. The MIT team imaged this astwith commercially available confocal microscopes,

a professor of genetics at Harvard Medical school who was not part of the research team. MIT researchers led by Ed Boyden have invented a new way to visualize the nanoscale structure of the brain and other tissues.

and map how they connect to each other across large regions. here are lots of biological questions where you have to understand a large structure,


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The discovery, published in the scientific journal Nature Chemical Biology, comes on the heels of a study published last month in the journal PLOS ONE.

In Monday's study, synthetic biologists at the University of California at Berkeley inserted an enzyme gene from beets to coax yeast into converting tyrosine--an amino acid easily derived from sugar--into a compound called reticuline.

an MIT professor of biological engineering, was quoted as saying by Britain's Science Media Center.""The information in this paper, combined with DNA synthesis,


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and bioengineering and Isy Goldwasser, is a wireless device that pairs with an iphone or ipad via a Bluetooth connection (Android app coming soon).


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scientists working in the field of tissue engineering have been unable to construct a basic framework to hold together all of the biological components that make up a leg or arm,

According to the press release, uscle progenitors were injected directly into the matrix sheaths that define the position of each muscle. he leg was left to culture in a bioreactor for five days.

After two weeks, the scientists removed the leg from the bioreactor to analyze it. Tests confirmed the presence of vascular cells along blood vessel walls


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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.


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microbiologist Kim Lewis, along with his colleague at Northeastern University in Boston, microbial ecologist Slava Epstein, described a new technique for coaxing bacteria to grow:

and grow new bacterial coloniesany scooped out of soil in the backyard of microbiologist Losee Ling,

when a small percentage of microbes escape an antibiotic because of a mutation and then those bacteria multiply.)

says Helen Zgurskaya, a biochemist at the University of Oklahoma, Norman, who studies how bacteria become susceptible to antibiotics. his study demonstrates that unculturable bacteria have unrecognized new,

a microbiologist at the University of California, San francisco. But there are many paths to developing resistance,


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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,


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while others hunt for the virus own genetic material. Some assays can measure the presence 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.

however, says microbiologist Vincent Racaniello of Columbia University. efore we view this as a definitive definition of what people have been infected with,


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A team of bioengineers and geneticists has designed a device that can suspend a single living cell between magnets and measure its density based on how high it floats.

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

explains Utkan Demirci, a bioengineer at Stanford university in Palo alto, California. But he and his colleagues were looking for new ways to manipulate

says Will Grover, a bioengineer at the University of California, Riverside, who was involved not in the new work.


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and memory, says biologist Irina Conboy of the University of California, Berkeley, who recently published a scientific paper showing that targeting a separate molecule can lower levels of B2m


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Now, a team of physicists and biologists have gone a key step further, coaxing a cell to envelop a tiny plastic sphere that acts like a resonant cavityhown in green in the micrograph abovehus placing a whole laser within a cell.


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Scientists have been hunting for years for mutations in crystallin proteins that might offer new insights

molecular biologist Ling Zhao may have done just that. 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.

When their parents did not have the same mutation, 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.

a molecular biologist at Massachusetts institute of technology in Cambridge not affiliated with the study. He has been investigating cataract proteins

and molecular biologist at UC San diego, is looking forward to seeing what the lanosterol drops can dissolve next. think the natural next step is looking to translate it into humans,


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Traditional methods for mapping HIV genetic material use long strings of these nucleotides, called oligomers, to find and bind to complementary strands of DNA or RNA in sample tissues.

allowing researchers to create an image of precisely where the viral genetic material is dispersed throughout the tissue sample.

but it also converts to a DNA form that allows it to weave its genes into a human chromosome.


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so seeing molecules would suggest something is replenishing them hinting at possible biological activity. Europa is sized a good moon


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what was going on what you might call proto-biology before life even got started he says.


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if you have imaging probes that can sense specific biomolecules Johnson says. Dual actionjohnson and his colleagues designed the particles

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


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#Bacteria become genomic tape recorders MIT engineers have transformed the genome of the bacterium E coli into a long-term storage device for memory.

You can store very long-term information says Timothy Lu an associate professor of electrical engineering and computer science and biological engineering.

The new strategy described in the Nov 13 issue of the journal Science overcomes several limitations of existing methods for storing memory in bacterial genomes says Lu the paper s senior author.

After the DNA is produced the recombinase inserts the DNA into the cell s genome at a preprogrammed site.

We can target it anywhere in the genome which is why we re viewing it as a tape recorder

If the DNA is inserted into a nonfunctional part of the genome sequencing the genome will reveal

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.


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Instead the vast majority of this genetic material is found within the trillions of microorganisms that call our bodies home.

and Therapeutics a new interdisciplinary center dedicated to advancing the understanding of the microbiome s role in human biology

but our ability to translate this data into usable knowledge is lagging behind says Arup K. Chakraborty the Robert T. Haslam (1911) Professor of Chemical engineering Physics Chemistry and Biological engineering at MIT and director of the MIT Institute

The new center s co-directors are Eric Alm an associate professor of biological engineering at MIT and Ramnik Xavier chief of gastroenterology and director of the Center for the Study of Inflammatory Bowel

Molecular biologists microbiologists and cell biologists seek to understand microbe/microbe and microbe/host cell function and communication he says.

Immunologists geneticists and genomics researchers drive Progress to this wealth of information clinicians contribute patient-based insights and gain potential targets for therapeutics.


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ut it was really interesting to learn about how they were trying to solve this problem from a biological standpoint,


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if we could create a synthetic active system that could sense gradients in biological receptors Alexander-Katz explains.


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#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.

MIT researchers have developed now a new way to model the effects of these genetic mutations in mice.

Their approach based on the genome-editing technique known as CRISPR is much faster than existing strategies

which require genetically engineering mice that carry the cancerous mutations. 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

With a lot of these mutations we have no idea what their role is in tumor progression.

If we can actually understand the biology we can then go in and try targeted therapeutic approaches.

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.

Scientists have begun recently exploiting this system to make targeted mutations in the genomes of living animals either deleting genes

This process is much faster than generating mice with mutations inserted at the embryonic stem cell stage

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.

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 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.

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


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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,

Indeed, collecting clinical data is a major challenge in spinning biotechnology out of the lab, notes Cima,


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#Nanoparticles get a magnetic handle A long-sought goal of creating particles that can emit a colorful fluorescent glow in a biological environment

Compactness is critical for biological and a lot of other applications. In addition previous efforts were unable to produce particles of uniform and predictable size

Initially at least the particles might be used to probe basic biological functions within cells Bawendi suggests.

Melanie Gonick/MIT The ability to manipulate the particles with electromagnets is key to using them in biological research Bawendi explains:

The next step for the team is to test the new nanoparticles in a variety of biological settings.


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This work goes a long way to squeezing the last drop of ethanol from sugar adds Gerald Fink an MIT professor of biology member of the Whitehead Institute and the paper s other senior author.

They also found that these changes did not affect the biochemical pathway used by the yeast to produce ethanol:


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#High-speed biologics screen MIT engineers have devised a way to rapidly test hundreds of different drug-delivery vehicles in living animals making it easier to discover promising new ways to deliver a class of drugs called biologics

In a study appearing in the journal Integrative biology the researchers used this technology to identify materials that can efficiently deliver RNA to zebrafish and also to rodents.

This type of high-speed screen could help overcome one of the major bottlenecks in developing disease treatments based on biologics:

Biologics is the fastest growing field in biotech because it gives you the ability to do highly predictive designs with unique targeting capabilities says senior author Mehmet Fatih Yanik an associate professor of electrical engineering and computer science and biological engineering.

However delivery of biologics to diseased tissues is challenging because they are significantly larger and more complex than conventional drugs.

By combining this work with our previously published high-throughput screening system we are able to create a drug-discovery pipeline with efficiency we had imagined never before adds Tsung-Yao Chang a recent MIT Phd recipient and one of the paper s lead authors.

because their larvae are transparent making it easy to see the effects of genetic mutations or drugs.#

and other small animals have teamed up with Anderson et al. who are leading experts in RNA delivery to create a new platform for rapidly screening biologics

Yanik s lab is currently using this technology to find delivery vehicles that can carry biologics across the blood-brain barrier a very selective barrier that makes it difficult for drugs


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#Biologists find an early sign of cancer Years before they show any other signs of disease pancreatic cancer patients have very high levels of certain amino acids in their bloodstream according to a new study from MIT Dana-Farber

What that means for the tumor and what that means for the health of the patient those are long-term questions still to be answered says Matthew Vander Heiden an associate professor of biology a member of MIT s Koch Institute for Integrative Cancer Research

This is a finding of fundamental importance in the biology of pancreatic cancer says David Tuveson a professor at the Cancer Center at Cold Spring Harbor Laboratory who was involved not in the work.


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if this type of technology could find use in domestic maritime operations ranging from the detection of smuggled nuclear biological


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Led by Timothy Lu an associate professor of biological engineering and electrical engineering and computer science the researchers described their findings in the Sept. 21 issue of Nature Biotechnology.

Last month Lu s lab reported a different approach to combating resistant bacteria by identifying combinations of genes that work together to make bacteria more susceptible to antibiotics.

In the new Nature Biotechnology study graduate students Robert Citorik and Mark Mimee worked with Lu to target specific genes that allow bacteria to survive antibiotic treatment.

The CRISPR genome-editing system presented the perfect strategy to go after those genes. CRISPR 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.

One of these proteins a DNA-cutting enzyme called Cas9 binds to short RNA guide strands that target specific sequences telling Cas9 where to make its cuts.

The genes encoding NDM-1 and other antibiotic resistance factors are carried usually on plasmids circular strands of DNA separate from the bacterial genome making it easier for them to spread through populations.

They also successfully targeted another antibiotic resistance gene encoding SHV-18 a mutation in the bacterial chromosome providing resistance to quinolone antibiotics and a virulence factor in enterohemorrhagic E coli.

which in principle could help to combat the spread of antibiotic resistance fueled by excessive broad-spectrum treatment says Ahmad Khalil an assistant professor of biomedical engineering at Boston University who was not part of the research team.

We re excited about the application of Combigem to probe complex multifactorial phenotypes such as stem cell differentiation cancer biology


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This technique could offer a more reliable way to detect malaria says Jongyoon Han a professor of electrical engineering and biological engineering at MIT.

It s based on a naturally occurring biomarker that does not require any biochemical processing of samples says Han one of the senior authors of a paper describing the technique in the Aug 31 issue of Nature Medicine.


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Furthermore the researchers found that they could reverse the emotional association of specific memories by manipulating brain cells with optogenetics a technique that uses light to control neuron activity.

Professor of Biology and Neuroscience director of the RIKEN-MIT Center for Neural Circuit Genetics at MIT s Picower Institute for Learning and Memory and senior author of the paper.#

#The paper s lead authors are Roger Redondo a Howard hughes medical institute postdoc at MIT and Joshua Kim a graduate student in MIT s Department of biology.

David Anderson a professor of biology at the California Institute of technology says the study makes an important contribution to neuroscientists fundamental understanding of the brain


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it a good way to study cancer biology and diagnose whether the primary cancer has moved to a new site to generate metastatic tumors,


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It was developed originally in the laboratory of Koch Institute Director#Tyler Jacks the#David H. Koch Professor of Biology#who is co-senior author of this paper.

With efficient delivery of therapeutic RNA any individual small RNA or combination of RNAS could be deployed to regulate the genetic mutations underlying a given patient s cancer.

because you can design them to treat any type of disease by modifying gene expression very specifically says James Dahlman a graduate student in Anderson s

This investigation typifies the Koch Institute s model of bringing biologists and engineers together to engage in interdisciplinary cancer research.

This study is a terrific example of the potential of new RNA therapies to treat disease that was done in a highly collaborative way between biologists


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#New analysis reveals tumor weaknesses Scientists have known for decades that cancer can be caused by genetic mutations

These alterations known as epigenetic modifications control whether a gene is turned on or off. Analyzing these modifications can provide important clues to the type of tumor a patient has

if the DNA-repair gene MGMT is silenced by epigenetic modification. A team of MIT chemical engineers has developed now a fast reliable method to detect this type of modification known as methylation which could offer a new way to choose the best treatment for individual patients.

Beyond the genomeafter sequencing the human genome scientists turned to the epigenome the chemical modifications including methylation that alter a gene s function without changing its DNA sequence.

The other key component of Sikes system is a biochip a glass slide coated with hundreds of DNA PROBES that are complementary to sequences from the gene being studied.

When a DNA sample is exposed to this chip any strands that match the target sequences are trapped on the biochip.

This technique which cuts the amount of time required to analyze epigenetic modifications could be a valuable research tool as well as a diagnostic device for cancer patients says Andrea Armani a professor of chemical engineering

of which epigenetic markers are linked to which diseases. The MIT team is now adapting the device to detect methylation of other cancer-linked genes by changing the DNA sequences of the biochip probes.

They also hope to create better versions of the MBD protein and to engineer the device to require less DNA.


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