#New gene therapy success in a rare disease of the immune system Wiskott-Aldrich syndrome is a rare congenital immune and platelet deficiency
It is caused by mutations in the gene encoding the was expressed protein (WASP in hematopoietic cells.
assesses the feasibility and efficacy of gene therapy in this indication. The article published in JAMA reports the results for the first six patients, aged 8 months to 16 years,
It is the first time that a gene therapy based on genetically modified stem cells is tested in a multicenter, international clinical trial that shows a reproducible and robust therapeutic effect in different centers and different countries.
and efficacy of gene therapy and having it rapidly approuved and made available to all patients.
These are skills that we implement for other international trials of gene therapy for rare genetic diseases of the immune system
"This is a very powerful example of how gene therapy can offer highly effective treatment for patients with complex and serious genetic disease.
#Frequent genomic alteration is identified in a rare subset of breast cancer Genomic profiling identifies genomic mutations in a gene associated with a rare subset of breast cancer,
research shows--mutations that cannot otherwise be identified with standard clinical analysis of cells and tissue.
Research from Rutgers Cancer Institute of New jersey shows genomic profiling identifies genomic mutations in a gene associated with a rare subset of breast cancer--mutations that cannot otherwise be identified with standard clinical analysis of cells and tissue.
As part of the precision medicine initiative at the Cancer Institute of New jersey, investigators--which include colleagues from Rutgers Robert Wood Johnson Medical school and RUCDR Infinite Biologics, the world's largest university-based biorepository,
located within the Human genetics Institute of New jersey--wanted to define the relationship of ERBB2 alterations in the pleomorphic form of the disease."
Utilizing the invasive breast cancer data set of 962 cases in The Cancer Genome Atlas all breast cancers with alterations in the CDH1 gene (that gives instructions to make a protein that causes cancer cells to stick to one another
Of 116 eligible breast cancers from The Cancer Genome Atlas 86 were invasive lobular breast cancer. Of that number, 21 cases were found to be the pleomorphic type.
Nine ERBB2 mutations (42.9 percent) and three amplifications (14.3 percent) were found in the pleomorphic type
Data from the additional 16 cases from the Cancer Institute validate the findings observed on breast cancers from The Cancer Genome Atlas."
and tricalcium phosphate-based biomaterials to repair the tooth and fill lesions. Our results lead us to imagine unprecedented therapeutic strategies aimed at mobilising the resident pulpal stem cells
and professor of anatomy and regenerative biology at the George washington University School of medicine and Health Sciences."
and associate professor in the Department of Genetics & Genome Sciences at the Case Western Reserve School of medicine, found seven drugs that enhance generation of mature oligodendrocytes
"said UTMB's Thomas Geisbert, professor of microbiology and immunology.""We were able to protect all of our nonhuman primates against a lethal Makona Ebola infection
and accurately adapt our sirna-LNP technology to target genetic sequences emerging from new Ebola virus outbreaks,
Mutations in this gene also cause a rare human disease called the Nail-patella syndrome (NPS
However, this is not the case of the latest cutting-edge devices such as ultra-precise biosensors, single electron transistors, molecular circuits and quantum computers.
or perhaps as biomimetic surfaces for implantable tissue scaffolds or neural implants. The work was the result of collaboration between Wong's biomedical engineering lab and the lab of Robert Hurt, professor of engineering at Brown,
who focuses on carbon nanomaterials.""This is a new application for graphene, "Hurt said.""We are just beginning to realize all of the innovative ways one can use this atomically thin and flexible building block to make new materials and devices."
#World's first genetic modification of human embryos reported: Experts consider ethics The team injected 86 embryos
and that only a fraction of those contained the replacement genetic material. Analysis also revealed a number of'off-target'mutations assumed to be caused by the technique acting in other areas of the genome.
The results reveal serious obstacles to using the method in medical applications. The scientists have tried to head off ethical concerns by using'nonviable'embryos,
"Dr Yalda Jamshidi, Senior Lecturer in Human genetics, St george's University Hospital Foundation Trust, said:""Inherited genetic conditions often result
what we call gene therapy and researchers have been working on developing techniques to accomplish this for many years."
"Prof Shirley Hodgson, Professor of Cancer Genetics, St george's University of London, said:""I think that this is a significant departure from currently accepted research practice.
In the past all the gene therapy research that has been approved by regulatory bodies has been somatic, not germline, because of the potentially unpredictable and heritable effects of germline research.
The fact that these researchers found that there were a number of"off target"mutations resulting from the technique they used is clearly a worry in this context.
Any proposal to do germline genetic manipulation should be considered very carefully by international regulatory bodies before it should be considered as a serious research prospect.
This is because of the obvious concerns about the heritability of the genetic alterations induced and the way in which such research could spread from work on"nonviable"embryos,
"Prof Darren Griffin, Professor of Genetics, University of Kent, said:""Given the widespread use of the CRISPR/Cas9 system, such announcement was inevitable, sooner rather than later.
http://www. sciencemediacentre. org/expert-reaction-to-the-application-of-genome-editing-techniques-to-human-embryos/http://www. smc. org. au/expert-reaction-worlds
-first-genetic modification-of-human-embryos-reported-protein-cell l
#Generating broadband terahertz radiation from a microplasma in air Researchers have shown that a laser-generated microplasma in air can be used as a source of broadband terahertz radiation.
Prof Sader says this technique revolutionises molecule detection for biologists, or indeed anyone who wants to measure extremely small objects.
and inertial imaging could prove very useful for biological scientists.""You can imagine situations where you don't know exactly what you are looking for,
The paper, to be published online By nature Genetics on April 27, also demonstrates how computer science and statistical methods may combine to aggregate
Led by Olga Troyanskaya, deputy director for genomics at SCDA the team collected and integrated data from about 38,000 genome-wide experiments (from an estimated 14,000 publications.
These datasets necessarily contain not only information about cells'RNA/protein functions, but also information from individuals diagnosed with a variety of illnesses.
Then, combining that tissue-specific functional signal with the relevant disease's DNA-based genome-wide association studies (GWAS),
thus integrates quantitative genetics with functional genomics to increase the power of GWAS and identify genes underlying complex human diseases.
"Olga and her collaborators have demonstrated that extraordinary results can be achieved by merging deep biological insight with state-of-the-art computational methods,
"A key challenge in human biology is that genetic circuits in human tissues and cell types are very difficult to study experimentally,
who also is a professor in the computer science department and the Lewis-Sigler Institute for Integrative Genomics at Princeton university."
nor can the function of genes be identified by genome-scale experiments. Yet we need to understand how proteins interact in these cells
The team created an interactive server, the Genome-scale Integrated Analysis of Networks in Tissues, or GIANT.
and Casey S. Greene, assistant professor of genetics at Dartmouth College, who was a postdoctoral fellow with the Troyanskaya group from 2009 to 2012.
and I believe we are still at the early stages of developing new ways to think about biological networks and their control,
The findings, described in the April 28 issue of the journal PLOS Biology, could lead to new approaches for helping people learn more efficiently.
which are problematic for conventional gel electrophoresis, a frequently used technique in biochemistry and molecular biology to size DNA and RNA fragments.
and insights for developing additional therapeutic strategies in the future,"explained Ed Seto, Ph d.,senior member of the Cancer Biology and Evolution Program at Moffitt t
and do not efficiently activate the biochemical cascade of events that ultimately lead to DNA repair.
Three atom-thick layers of molybdenum disulfide were cooked up in the lab of Jiwoong Park, associate professor of chemistry and chemical biology and member of the Kavli Institute at Cornell for Nanoscale Science.
#Scientists dramatically improve method for finding common genetic alterations in tumors St jude Children's Research Hospital scientists have developed a significantly better computer tool for finding genetic alterations that play an important role in many cancers
but were difficult to identify with whole-genome sequencing. The findings appear in the scientific journal Nature Methods.
St jude researchers created CONSERTING to improve identification of copy number alterations (CNAS) in the billions of pieces of genetic information generated by next-generation
whole-genome sequencing techniques. CNAS involve the gain or loss of DNA segments. The alterations affect just a few
and sensitivity than other techniques, including four published algorithms used to recognize CNA in whole-genome sequencing data.
The comparison involved the normal and tumor genomes from 43 children and adults with brain tumors, leukemia, melanoma and the pediatric eye tumor retinoblastoma."
whole-genome sequencing to better understand the genetic landscape of cancer genomes and lay the foundation for the next era of cancer therapy,
"said corresponding author Jinghui Zhang, Ph d.,a member of the St jude Department of Computational biology.""In this study of the tumor and normal genomes of 43 patients, CONSERTING identified copy number alterations in children with 100 times greater precision and 10 times greater precision in adults."
"First author Xiang Chen, Ph d.,a St jude senior research scientist, added:""CONSERTING helped us identify alterations that other algorithms missed,
"Using CONSERTING, researchers discovered genetic alterations driving pediatric leukemia, the pediatric brain tumor low-grade glioma, the adult brain tumor glioblastoma and retinoblastoma.
sometimes involving multiple chromosomes that swap pieces when they break and reassemble. St jude has made CONSERTING available for free to researchers worldwide.
scientists can upload data for analysis. Work on CONSERTING began in 2010 shortly after the St jude Children's Research Hospital--Washington University Pediatric Cancer Genome Project was launched.
The Pediatric Cancer Genome Project used next-generation, whole-genome sequencing to study some of the most aggressive and least understood childhood cancers.
whole-genome sequencing data for the Pediatric Cancer Genome Project. The project includes the normal and cancer genomes of 700 pediatric cancer patients with 21 different cancer subtypes.
CONSERTING combines a method of data analysis called regression tree, which is a machine learning algorithm, with next-generation,
whole-genome sequencing. Machine learning capitalizes on advances in computing to design algorithms that repeatedly and rapidly analyze large,
Next-generation, whole-genome sequencing involves breaking the human genome into about 1 billion pieces that are copied
and reassembled using the normal genome as a template. CONSERTING software compensates for gaps and variations in sequencing data.
and identify their origins in the genome e
#Cellular bubbles used to deliver Parkinson's meds directly to brain And what's the best way of getting her drug-packed exosomes to the brain?
"Exosomes are engineered by nature to be the perfect delivery vehicles for proteins and genetic material, "Batrakova says."
Biopharmaceuticals, or biologics, are produced proteins by living cells. Proteins such as catalase are tens of thousands of times larger than the small molecules that make up traditional drugs.
because you are directly targeting the underlying biochemical defect in obesity, "Durante said.""L-arginine is a natural amino acid commonly found in red meat, poultry, fish and dairy products.
but it also exerts other biological effects, and it can be converted by arginase to alternative compounds that counteract its benefits to the circulation."
Published online ahead of print in the leading microbiology journal Molecular Microbiology, the researchers have identified a building block common to many types of bacterial'virulence factors'(the bacterial proteins
"says first author Matthew Doyle, Phd candidate in the School of Biological sciences.""Our results are very exciting#we are not just talking about one molecule in one particular pathogen but rather a building block
"The discovery will also be useful in the biotechnology field for the development of a variety of marketable products
and processes which rely on coupling biological molecules to cell surfaces. The latest findings follow more than a decade of work led by Associate professor Renato Morona looking at how bacteria cause disease.
"said Daniel Fletcher, associate chair and professor of bioengineering, whose UC Berkeley lab pioneered the Cellscope."
and CD4+T lymphocytes. The assays for pathogens and cells were used as proof of concept to demonstrate the utility of several new detection and sensing technologies.
CD4+T lymphocyte capture and detectionaccurate CD4+T cell count is essential for HIV-1 diagnosis and treatment monitoring.
World health organization guidelines recommend antiretroviral therapy for individuals with a CD4+T cell count of less than 500 cells/ml.
Conventional CD4+T cell counting methods require an expensive flow cytometer a skilled operator, and costly reagents.
A disposable and flexible biosensing platform for efficient counting of CD4+T cells has potential to address some of these global health challenges in the point-of-care setting.
inexpensive assay for CD4+T cell count involved two novel technologies: a polyester film with microfluidic channels to capture the T cells,
The microfluidic channels were coated with an antibody that captures the CD4+T cells. A single drop of whole blood from a fingerprick was applied to the polyester film,
The shadow of the CD4+T cells that adhere to the channels can then be visualized on the polyester film.
Overall, the platform allows efficient CD4+T cell counting using fingerprick volume of unprocessed whole blood samples on disposable film at the point-of-care.
"says senior study author Mathew Garnett, a geneticist at the Wellcome Trust Sanger Institute.""We believe that these organoids are an important new tool in the arsenal of cancer biologists
and may ultimately improve our ability to develop more effective cancer treatments.""To study the causes of cancer
As a result, it has been challenging to predict the drug sensitivity of individual patients based on their unique spectrum of genetic mutations.
whether these cultures could potentially bridge the gap between cancer genetics and patient outcomes. In the new study, the researchers grew 22 organoids derived from tumor tissue from 20 patients with colorectal cancer
The genetic mutations in the organoid cultures closely matched those in the corresponding tumor biopsies and agreed well with previous large-scale analyses of colorectal cancer mutations.
In validation of the approach, the researchers identified previously reported associations between specific mutations and resistance to particular drugs.
indicating that the subset of cancer patients with RNF43 mutations would strongly benefit from a drug that inhibits a protein called porcupine."
based on biological information and performance in statistical analysis. Patients with pancreatic cancer were found to have increased levels of each of the three proteins
and developed for use in a standard cell culturing facility without the need for expensive bioprinting equipment.
to realise a biological outcome, "Professor Wallace said.""This paves the way for the use of more sophisticated printers to create structures with much finer resolution."
and optogenetics, which insert proteins into the surviving retinal cells to make them light-sensitive. But the devices have a major shortcoming
"There are similar issues with optogenetics, Boynton said.""The optogenetic proteins that are currently available produce sluggish responses over time,
and they are limited in the number of different cell types that they can separately target,
In view of the presence of MOCOS in many organs and its involvement in numerous biological and neurobiological functions
while revealing new clinical and biological disturbances in these patients. This work therefore opens new pathways for research
these results are published on 3rd of August in the journal Nature Structural & Molecular biology. Just after fertilization,
"Differentiated hepatocytes have amplified their chromosomes, "he explains. That is, the cells have more than the usual two copies of every chromosome."
"This enables the cells to make more proteins, but it really compromises their ability to divide."
the labeled cells had only two copies of each chromosome. By following the descendents of the stem cells for up to a year,
taking on the specialized features and amplified genomes of mature hepatocytes.""This fits the definition of stem cells,
#Molecular cell cycle clock discovered that controls stem cell potency Singapore scientists from A*STAR's Genome Institute of Singapore (GIS) have, for the first time,
"said lead author of the research, Dr Kevin Gonzales, Post Doctoral Fellow at the Stem Cell and Regenerative Biology at GIS."
"Co-lead author Research Fellow Dr Liang Hongqing at GIS'Stem Cell and Regenerative Biology added,
and atomic nuclei within molecules that take place in less than a tenth of a trillionth of a second--information that will benefit groundbreaking research in materials science, chemistry and biology.
and other biological tissues because of needle buckling or fracturing on penetration. A research team in the Department of Electrical and Electronic Information Engineering
which dissolves upon contact with biological tissue. Silk fibroin is used as the dissolvable film because it has high biocompatibility,
including recording/stimulation electrodes, glass pipettes, and optogenetic fibers.""He added:""This has the potential to reduce invasiveness drastically
"The study links a family of enzymes--molecules that act as biological catalysts--known as polyketide synthases (PKS) directly to a complex series of chemical reactions that ultimately add sulfur to leinamycin, a member of the polyketide family of natural products."
cystic fibrosis and many others are treated permanently through the science of genome engineering. Thanks to his latest work, Hubbard is bringing that future closer to reality.
Hubbard's research, published in the journal Nature Methods, demonstrates a new technology advancing the field of genome engineering.
and then"edit"them, replacing the damaged genetic code with healthy DNA.""There is a trend in the scientific community to develop therapeutics in a more rational fashion,
'Your disease is caused by a mutation in gene X, and we're going to correct this mutation to treat it'."
'"In theory, genome engineering will eventually allow us to permanently cure genetic diseases by editing the specific faulty gene (s)."Genome engineering involves the targeted, specific modification of an organism's genetic information.
Much like how a computer programmer edits computer code, scientists could one day replace a person's broken
"Currently much of the research in the field of genome engineering is focused on treating monogenic diseases--diseases that involve a single gene--as they're much easier for researchers to successfully target.
He hopes his current work will play a role in helping genome engineering reach its full potential
000 group A streptococcus genomes collected over decades. Researchers from Houston Methodist Research Institute, Houston Methodist Hospital, institutions in Finland and Iceland,
scientists are able to sequence the entire genome of the bacteria, just as is done in humans.
and its relatively small genome, which allows the genome of thousands of strains to be sequenced completely relatively rapidly.
The researchers'original hypothesis, which turned out to be correct, was that changes in the genetic make-up of the GAS pathogen had underpinned new epidemics.
the collaborating international team sequenced the genome of thousands of disease-causing strains, precisely defining every base pair mutation in the strains."
"The surprise was that the changes involved alterations in the genes encoding two potent toxins that contribute to human infections,
Their in-vitro experiments uncovered a multi-stage biochemical process in which protein molecules are dissolved from the aggregates.
Researchers at the Center for Molecular biology of Heidelberg University, the German Cancer Research center and the Heidelberg Institute for Theoretical Studies collaborated on the project,
Dr. Bernd Bukau, Director of the Center for Molecular biology of Heidelberg University (ZMBH), who is also a researcher at the German Cancer Research center (DKFZ.
Protein aggregates can also occur through changes in the protein structure due to mutation or chemical or environmental stresses.
"says Phd candidate Daniel Hunter from the UNSW School of Biological, Earth and Environmental sciences.""The devil is the obvious answer.
"Hunter is the lead author of a study published in the journal Biological Conservation, which highlights the potential benefits of using the devil as a replacement apex predator.
and Joseph Wu, MD, Phd, professor of cardiovascular medicine and of radiology, teamed up with a group of genome-sequencing specialists to develop the new technique:
Wilson and Wu said that the gold standard of genome sequencing involves thousands of genes, costs $1,
it makes no sense to sequence the entire 22,000-gene genome, since fewer than 200 genes are known to affect the heart,
Moreover, whole-genome sequencing typically contains mistakes, so key mutations might be missed. To meet this challenge
Wilson and Wu's team designed a streamlined assay, or test, that looks at just the 88 genes known to carry mutations that cause heart problems.
Materials for the new test cost about $100, and results are back within three days.
This approach--surveying a small subgroup of relevant genes instead of the whole genome--is used already to test for other diseases, such as cystic fibrosis.
or clpps, were developed at the Stanford Genome Technology Center. These simple probes accurately target specific parts of the genome
and can be made in large batches at low cost. Because of their simplicity, they are customized easily to target different genes.
The heart disease clpp assay was cheaper, faster and more accurate than whole-genome assays. The Stanford team next plans to test the technique on a group of 200-300 patients.
"Wilson and Wu said the genome technology group has been working on the clpp technique for a long time.""Our goal is to make genetic testing more accessible to more people,
"Wilson said.""We want to democratize it. For now, we're going to release it free of charge: Researchers can get samples of the assay
In some ways it's making genetic testing open source.""The development of the new test is an example of Stanford Medicine's focus on precision health,
Chemistry & Biology. Making Leptin Last Longer Lerner's laboratory helped pioneer techniques for generating billions of different antibodies
the team edited the genetic code of a standard human antibody to replace one of its target-grappling elements--a structure that normally would bind to a virus, for example--with the protein leptin.
the Phd in biochemistry and molecular biology Gabriel Cabrera Betanzos designed a microencapsulation process from pomegranate juice
#Plant growth requires teamwork between two hormones The scientists used plants with mutations, which impaired the activity of brassinosteroids.
therefore necessary for the production of gibberellins--a mechanism that is highly relevant to the growth and development of plants,"says Poppenberger, Professor for the Biotechnology of Horticultural Crops.
Transcription factors are proteins that regulate gene expression. Once activated by brassinosteroids, they initiate the production of gibberellin."
"So using this method we can look at interactions between four biological components inside a cell in three-dimension and at very high resolution of about 10 nanometers,
"The applications are mostly in fundamental research and cell biology at this point, but hopefully it will lead to medical applications.
The cell nucleus is a ball of chromosomes wrapped in a protective fatty membrane. In this study, the researchers discovered that treating astrocytes with TGF-beta freed a small piece of the p75ntr protein to bind to nucleoporins,
At the same time, their CD4 T-cell counts increased and their rate of viral suppression increased by about one half.
In contrast, both the CD4 cell counts and the rate of suppression fell for those in the control arm."
such as interleukin 2, can"paralyze"CD4 T cells, immune components that help orchestrate the body's response to pathogens and other invaders.
it basically paralyzes CD4 T cells.""To be activated, T cells must first recognize an antigen, receive appropriate costimulatory signals,
The researchers believe this CD4 paralysis mechanism could play a role in preventing autoimmunity, a hypothesis they supported by testing immunotherapy in a multiple sclerosis model.
By shutting down CD4 T cells, immune stimulation prevented an autoimmune response. This offers the potential to paralyze the immune system to prevent autoimmunity
CD4 paralysis may also be coopted by pathogens, such as HIV, which could use this chronic inflammation response to disable the immune system."
"This really highlights the importance of CD4 T cells, "said Murphy.""The fact that they're regulated and suppressed means they are definitely the orchestrators we need to take into account.
The virus has been telling us CD4 T cells are critical because that's what it attacks."
#New embryo image processing technology could assist in IVF implantation success rates A collaboration between biologists
This breakthrough has important implications for IVF (in vitro fertilisation) treatments and pre-implantation genetic diagnosis (PGD.
By altering the tension of the cells using lasers or genetic manipulations, researchers could change which cells move inside the embryo.
or pre-implantation genetic diagnosis (PGD) first organise their cells.""If in the future, we can combine our new image processing technique with non-harmful dyes that can label the membranes of human embryos,
and quickly recreate microenvironments found across biology. To illustrate the potential of their technique, the Illinois team mixed breast cancer cells and cells called macrophages that signal cancer cells to spread
Arraykilian said his team's synthetic microenvironment lies somewhere in the middle of two extremes in the field of modeling biology:
then you can ask fundamental biological questions.""Kilian said these questions range from the basic--how macrophages signal to the breast cells--to the more long-term:
"Now, researchers can ask more sophisticated biological questions than they could, "Kilian said. And they can do it quickly.
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