"There has been huge investment in sequencing the human genome with the idea that if we get all the relevant genetic information we can predict
whether you have a predisposition to cancer and, ultimately, use a precision medicine-based approach to develop a therapeutic approach.
Measuring the levels of the proteins in patient tissues followed by database analysis of clinical information from The Cancer Genome Atlas
#Spontaneous Rare Mutations Cause Half Of Autism Researchers are saying a new analysis of data on the genetics of autism spectrum disorder disputes a commonly held belief that autism results from the chance combinations
a Cold Spring Harbotr Laboratory assistant professor and on faculty at the New york Genome Center, finds that"autism genes"-i e.,
#Rare Variant Discovered Through Deep Whole-genome Sequencing Of 1, 070 Japanese People A research group at Tohoku Medical Megabank Organization (Tommo) has constructed successfully a Japanese population reference panel (1kjpn), from the genome information of 1,
070 individuals who had participated in the cohort studies*1 of the Tohoku Medical Megabank Project.
The 1kjpn was effective for imputing genotypes of the Japanese population genome wide. The data demonstrates the value of high-coverage sequencing for constructing population-specific variant panels,
a fellow professor of bioengineering at Stanford who pioneered a field that combines genetics and optics, called optogenetics.
Optogenetics was used only as an experimental proof of concept, Bao said, and other methods of stimulating nerves are likely to be used in real prosthetic devices.
Furthermore, they were able to transfer these sensory signals to the brain cells of mice in vitro using optogenetics.
since conventional light-sensitive proteins used in optogenetics do not stimulate neural spikes for sufficient durations for these digital signals to be sensed.
Tee et al. therefore engineered new optogenetic proteins able to accommodate longer intervals of stimulation. Applying these newly engineered optogenic proteins to fast-spiking interneurons of the somatosensory cortex of mice in vitro sufficiently prolonged the stimulation interval
The researchers found that the life of yeast could be extended by as much as 60 percent in some circumstances. his study looks at ageing in the context of the whole genome
and proteins that produces chromosomes inside cell nuclei -which helps it to maintain gene expression patterns that are put in place during early development.
But when the proper functioning of PRC2 is disrupted due to mutations in the PRC2 gene, it can have very serious consequences for a person health."
and enhancers--pieces of the genome that control gene activity--by chemically manipulating proteins that package DNA.
or the risk for genetic disease and it could provide a new avenue for gene therapies and guiding stem cell differentiation.
"The epigenome is associated everything with the genome other than the actual genetic sequence, and is just as important as our DNA in determining cell function in healthy and diseased conditions,
"But there's also many other pieces of the genome called enhancers that aren't next to any genes at all,
"Timothy Reddy, assistant professor of biostatistics and bioinformatics at Duke, has spent the better part of a decade mapping millions of these enhancers across the human genome.
An enhancer might affect a gene next door or several genes across the genome--or maybe none at all.
"There are already drugs that will affect enhancers across the whole genome, but that's like scorching the earth,"said Reddy."
and modify very specific epigenetic marks in very specific places to find out what individual enhancers are doing."
and paste DNA sequences in the human genome. For this epigenome editing application, Gersbach silenced the DNA-cutting mechanism of CRISPR
Gersbach and Reddy put their artificial epigenetic agent to the test by targeting a few well-studied gene promoters and enhancers.
--or even families of genes--by targeting enhancers at distant locations in the genome--something that their previous gene activators could not do.
Many different variations in the genome sequence can affect your risk of disease, and this genetic variation can occur in these enhancers that Tim has identified,
where they can change the levels of gene expression. With this technology, we can explore what exactly it is that they're doing
and how it relates to disease or response to drug therapies.""Gersbach added, "Not only can you start to answer those questions,
but you might be able to use this technique for gene therapy to activate genes that have been silenced abnormally
and Dr. Marcus Horwitz, professor of medicine and of microbiology, immunology and molecular genetics. The research was supported by a University of California Discovery Biotechnology Award, the National institutes of health, Nanocav and the National Science Foundation n
or likely genetic source, of each child's symptoms, according to a study published April 8 in the journal Molecular genetics & Genomic medicine."
In another closely related case, TGEN's genetic testing found a pathogenic variant in the RYR1 gene in a case of calcium channel myopathy.
"Without this type of deep genetic analysis, we might never have discovered the source of each of these children's disease,
requiring personalized medical treatment beginning with genetic diagnosis through sequencing like we perform at TGEN.""Dr. Hunter said."
The relationships between the mothers'genetics, the composition of her breast milk and the development of her infant's gut microbiota.
The relationships between the mothers'genetics, the composition of her breast milk and the development of her infant's gut microbiota.
"What this work does show us is that the mother's genotype matters, and that it influences the breast milk,
The relationship between human genetics, breast milk and Bifidobacterium appears to have developed throughout mammalian evolution. Development of a healthy gut microbiota can have a lifelong effect on health
The structure of the light-driven ion pump KR2 may provide a blueprint for new optogenetic tools In 2013,
belongs to a group of light-sensitive proteins that have become the basis of the research field of optogenetics.
which is a feature that so far had been missing in the toolkit of optogenetics. However, until now neither the exact atomic structure nor the ion transport mechanism had been known--which is an important prerequisite for utilizing KR2
who is an expert on membrane proteins and one of the founders of optogenetics. For potential optogenetic application, this result is especially interesting,
says Bamberg:""In neurons, transporting potassium ions from the cell is the natural mechanism of deactivation.
Associate professor Voss said the study revealed that the proteins tightly regulated Hox gene expression in early embryonic development."
and correctly timing Hox gene expression, ensuring the genes were activated at the right time and in the right place,
She said the research also showed that significantly reducing Hox gene expression still allowed normal development,
His lab's investigation of the gene began at the prompting of co-author Sally Camper, the James V. Neel Professor and Chair of the Department of Human genetics in the U-M Medical school.
and offer them more aggressive treatment after their operation increases',says Per-Henrik Edqvist, researcher at Uppsala University's Department of Immunology, Genetics and Pathology,
which an anti-HIV drug induces lethal mutations in the virus's genetic material. The findings from the University of Chicago and the Massachusetts institute of technology could bolster efforts to develop the next generation of antiviral treatments.
and influenza using a strategy called lethal mutagenesis. This strategy seeks to extinguish viruses by forcing their already high mutation rates above an intolerable threshold.
they can't properly manage their genetic material.""They can't replicate and so are eliminated quickly,"said Andrei Tokmakoff, the Henry G. Gale Distinguished Service Professor in Chemistry at UCHICAGO."
#Genetics overlap found between Alzheimer's disease, cardiovascular risk factors The findings are published in current online issue of Circulation."
"The researchers used summary statistics from genome-wide association studies of more than 200,000 individuals, looking for overlap in single nucleotide polymorphisms (SNPS) associated with clinically diagnosed AD and CRP and the three components of total cholesterol:
DNA sequence or chromosome--linked to increased AD risk. The researchers next conducted a meta-analysis of these 55 variants across four independent AD study cohorts,
encompassing almost 145,000 persons with AD and healthy controls, revealing two genome-wide significant variants on chromosomes 4 and 10.
meaning that all the cells in the culture are quite similar to each other in the way they express their genetic information."
Researchers from Imperial College London who led the study are now developing a gene therapy designed to boost the infection-fighting cells
The researchers now aim to develop a gene therapy designed to improve immunity by boosting the production of LEM.
and associate professor in the Department of Genetics & Genome Sciences at the Case Western Reserve School of medicine."
and human OPCS in our laboratory,"said Fadi Najm, MBA, the first author of the study and Research Scientist in the Department of Genetics & Genome Sciences at the Case Western Reserve School of medicine."
#New gene therapy success in a rare disease of the immune system Wiskott-Aldrich syndrome is a rare congenital immune and platelet deficiency
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.
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.
Data from the additional 16 cases from the Cancer Institute validate the findings observed on breast cancers from The Cancer Genome Atlas."
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
and accurately adapt our sirna-LNP technology to target genetic sequences emerging from new Ebola virus outbreaks,
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.
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
The paper, to be published online By nature Genetics on April 27, also demonstrates how computer science and statistical methods may combine to aggregate
the team collected and integrated data from about 38,000 genome-wide experiments (from an estimated 14,000 publications.
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.
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.
#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,
"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."
"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."
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
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
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,
"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,
including recording/stimulation electrodes, glass pipettes, and optogenetic fibers.""He added:""This has the potential to reduce invasiveness drastically
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,
'"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.
"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."
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
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,
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.
Transcription factors are proteins that regulate gene expression. Once activated by brassinosteroids, they initiate the production of gibberellin."
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."
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,
Arraythe breakthrough came after years of meticulous work developing expert knowledge in the field of genetics at Uio and OUS.
and English researchers, were published recently in Human Molecular genetics t
#Timing of sleep just as important as quantity Washington state University researchers have found that the timing of an animal's sleep can be
and hepatitis C. What they have in common is that the genome does not consist of DNA, but RNA.
scientists can determine how the genetic material of a virus is incorporated into nascent virions at the end of its reproductive cycle.
That mechanism is a gene variant--an allele--found in a part of the genome that controls inflammation.
sequenced the genomes of more than 100 members of a Colombian family affected with early-onset Alzheimer's.
"Lalli used a statistical genetics approach to determine whether these outliers possess any protective gene variants,
"We know that age is the greatest risk factor for Alzheimer's beyond genetics, "said Lalli,
or added to the genome. When there are too many or too few copies of a given gene or genes, due to CNVS,
One powerful single-cell analytic technique for exploring CNV is whole genome sequencing. The challenge is that,
web-based program automatically processes sequence data, maps the sequences to a reference genome, and creates CNV profiles for every cell that can then be viewed with a user friendly graphical interface.
what we did with their genetics, "Marie says. For the vast majority of cells in this genome-wide screen, Chelsea Marie was correct;
E. histolytica decimated many thousands of these independent cell cultures. However, a small number of cells seemed to resist the parasite.
but also proof that this cancer-science approach can be used to explore genetic mechanisms of resistance in the field of infectious disease,
#Pancreatic cancer subtypes discovered in largest gene expression analysis of the disease to date Dense surrounding tissue can block drugs from reaching pancreatic cancer tumors,
In the study published in Nature Genetics today, researchers reveal findings of both new subtypes of stroma and two subtypes of pancreatic cancer tumors.
while for some other cancers, we personalize treatment based on an individual patient's tumor genetics or other characteristics,"said the study's senior author Jen Jen Yeh, MD, a UNC Lineberger member and an associate professor and the vice chair for research in the UNC School of medicine Department of Surgery."
They were then able to examine gene expression patterns for each type in tissue samples from five different institutions.
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