Category Archives: Gene Medicine

The common cold is a regular nuisance for most of us. The average healthy adult has two to three colds per year. Cold viruses usually cause mild symptomssuch as a sore throat, runny nose, and coughand are quickly removed by the immune system. But for some people, particularly children and older adults with underlying health problems, cold viruses can lead to more severe health problems.

Human rhinovirus (HRV) is the main cause of the common cold, making up over half of the cases. Despite the prevalence of colds, the immune response to these viruses isnt well understood. A better understanding could help researchers develop effective therapies against HRV and other cold viruses.

A case study by researchers at NIHs National Institute of Allergy and Infectious Diseases (NIAID) revealed an important mechanism by which the immune system responds to HRV. The case involved a child who, several weeks after birth, started getting life-threatening respiratory infections. Her doctors at National Jewish Health and NIH suspected she might have a genetic abnormality affecting her immune system. Led by NIAIDs Dr. Helen Su, they performed a genetic analysis on the child and her immediate family. The study appeared online on June 12, 2017, in the Journal of Experimental Medicine.

The analysis identified a rare mutation in the IFIH1 gene, which codes for a protein called MDA5. Animal studies had found that MDA5 plays an important role in detecting viruses and initiating an immune response. The researchers showed that the childs mutant MDA5 didnt recognize HRV, and cells from her nasal passages werent able to suppress the virus.

The team confirmed that human MDA5 normally recognizes HRV. However, the protein isnt needed to recognize and control infections by another common cold virus, respiratory syncytial virus (RSV), or flu virus. The researchers speculate that lung damage, a weakened immune system due to HRV infections, or other unknown factors may have contributed to the childs increased infections with these other viruses.

To explore whether other people might be affected by similar mutations, the researchers analyzed a database of over 60,000 volunteers genomes. They found multiple rare variations in IFIH1 that could lead to less effective MDA5. Interestingly, most people with these variations lived a normal lifespan and had healthy children. Other genetic factors may have compensated for the abnormality, or people with frequent HRV infections may not have reported them.

With intensive care, the child survived numerous bouts of illness. Her health improved as her immune system matured and formed protective antibodies against various infectious agents.

This study has led to a better understanding of the human response to the common cold. Using this information, researchers hope to find a more direct way to fight HRV infections. When people have other disease factors, HRV infection can become a tipping point and lead to severe illness, disability, or even death, Su says. Now that we better understand the pathway, we can investigate more targeted ways to intervene.

The human immune response to common cold viruses is poorly understood, says NIAID Director Dr. Anthony S. Fauci. By investigating this unique case, our researchers not only helped this child but also helped answer some important scientific questions about these ubiquitous infections that affect nearly everyone.

This article has been republished frommaterialsprovided by NIH. Note: material may have been edited for length and content. For further information, please contact the cited source.

Reference

Lamborn, I. T., Jing, H., Zhang, Y., Drutman, S. B., Abbott, J. K., Munir, S., ... & Masutani, E. (2017). Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. Journal of Experimental Medicine, jem-20161759.

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Rare Gene Mutation Reveals How the Body Responds to the Common Cold - Technology Networks

June 28, 2017 Disruption of a region in chromosome 6 or epigenetic modifications of the DNA block Sestrin1 expression and these contribute to the development of follicular lymphoma. Credit: Elisa Oricchio/Natalya Katanayeva/EPFL

Follicular lymphoma is an incurable cancer that affects over 200,000 people worldwide every year. A form of non-Hodgkin lymphoma, follicular lymphoma develops when the body starts making abnormal B-cells, which are white blood cells that in normal conditions fight infections. This cancer is associated with several alterations of the cell's DNA, but it has been unclear which gene or genes are involved in its development. EPFL scientists have now analyzed the genomes of more than 200 patients with follicular lymphoma, and they discover that a gene, Sestrin1, is frequently missing or malfunctioning in FL patients. The discovery opens to new treatment options and it is now published in Science Translational Medicine.

One of the common features of follicular lymphoma is a genetic abnormality between two chromosomes (14 and 18). In an event known as "chromosomal translocation" the two chromosomes "swap" certain parts with each other. This triggers the activation of a gene that protects cells from dying, making cells virtually immortalthe hallmark of a tumor.

Moreover, approximately 30% of follicular lymphoma patients lose also a portion of chromosome 6, affecting multiple genes involved in suppressing the emergence of a tumor. These patients typically have poor prognosis. Another 20 % of patients have alterations causing chromosomal disorganization and the consequent malfunctioning of several genes and proteins. The bottom line is that for both group of patients it is very difficult to pinpoint which of all the affected genes are actually causing the disease.

The lab of Elisa Oricchio at EPFL, with colleagues from the US and Canada, analyzed the genomes of over 200 follicular lymphoma patients. Their analyses revealed that a specific gene, Sestrin1, can be harmed by both loss of chromosome 6 and silenced in patients.

Sestrin1 helps the cell defending itself against DNA damagefor example after exposure to radiationand oxidative stress. In fact, Sestrin1 is part of the cell's anti-tumor mechanism that stops potentially cancerous cells from growing.

Disruption of a region in chromosome 6 or epigenetic modifications of the DNA block Sestrin1 expression and these contribute to the development of Follicular Lymphoma.

Beyond identifying the Sestrin1 gene as frequently altered in FL patients, the scientists demonstrated that Sestrin1 is able to suppress tumors in vivo. They showed that Sestrin1 exerts its anti-tumor effects by blocking the activity of a protein complex called mTORC1, which is well known for controlling protein synthesis as well as acting as a sensor for nutrient or energy changes in the cell.

Finally, the identification of loss of Sestrin1 as a key event behind the development of follicular lymphoma is particular important because it helps identifying patients that will benefit from new therapies. Indeed, this study shows that the therapeutic efficacy of a new drug that is currently in clinical trial depends on Sestrin1. Importantly, this dependency can be extended beyond follicular lymphoma to other tumor types.

Explore further: Combination therapy may help patients with follicular lymphoma

More information: E. Oricchio el al., "Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma," Science Translational Medicine (2017). stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aak9969

A new study in The Journal of Experimental Medicine reveals that a high-risk group of patients with follicular lymphoma could benefit from a novel drug combination.

Mutations present in a blood cancer known as follicular lymphoma have revealed new molecular targets for potential treatments, according to researchers at Queen Mary University of London (QMUL) together with collaborators ...

Immune cellular therapy is a promising new area of cancer treatment. Anti-cancer therapeutics, such as chimeric antigen receptor (CAR) modified T cells, can be engineered to target tumor-associated antigens to attack and ...

Follicular lymphoma (FL), the second most common form of non-Hodgkin lymphoma, is a largely incurable disease of B cells, yet in many cases, because of its indolent nature, survival can extend to well beyond 10 years following ...

The goal for many cancer patients is to reach the five-year, disease-free mark, but new research from UR Medicine's Wilmot Cancer Institute suggests that two years might be a more practical survival goal for people with follicular ...

(HealthDay)An initial watch-and-wait strategy does not have a detrimental effect on the freedom from treatment failure (FFTF) or overall survival rate in selected patients with low-tumor burden follicular lymphoma compared ...

Follicular lymphoma is an incurable cancer that affects over 200,000 people worldwide every year. A form of non-Hodgkin lymphoma, follicular lymphoma develops when the body starts making abnormal B-cells, which are white ...

Adding an investigational antibody to the chemotherapy rituximab appears to restore its cancer-killing properties in certain leukemia patients with a natural resistance to the drug, according to a small, proof-of-concept ...

Leukemia researchers led by Dr. John Dick have traced the origins of relapse in acute myeloid leukemia (AML) to rare therapy-resistant leukemia stem cells that are already present at diagnosis and before chemotherapy begins.

Cancerous tumors are formidable enemies, recruiting blood vessels to aid their voracious growth, damaging nearby tissues, and deploying numerous strategies to evade the body's defense systems. But even more malicious are ...

A study by the University of Aberdeen has found that a higher concentration of the molecules that breakdown omega-3 fatty acids is associated with a higher chance of survival from bowel cancer.

Scientists from the Biotech Research & Innovation Centre (BRIC) at the University of Copenhagen have developed a groundbreaking method to reveal the structure of tissues and tumours with unprecedented detail, by completely ...

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The gene behind follicular lymphoma - Medical Xpress

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You Can Get Your Whole Genome Sequenced. But Should You? - WIRED

Canopy's NanoString service offers a simple, web-based ordering tool. Researchers are able to choose from one of NanoString's pre-made gene panels or design their own custom panel. Each panel enables the simultaneous measurement of over 700 genes.

Edward Weinstein, PhD, CEO of Canopy Biosciences, said "Canopy is excited to be able to offer NanoString services. NanoString instruments are costly, which has limited the access to this powerful technology for many researchers. Not only can we now offer the technology to all researchers, but we've also simplified the complex ordering process and can provide complete data analysis for our customers."

Canopy's NanoString service can be ordered directly from its website, http://www.canopybiosciences.com

About Canopy Biosciences

Canopy Biosciences was formed in 2016, partnering with leading research institutions to turn their discoveries into tangible products and make them available to the entire research community. Canopy Biosciences was formed with investment from BioGenerator, an evergreen investor in the St. Louis region. A complete list of products and services can be found at http://www.canopybiosciences.com.

Canopy Biosciences is trademarked by Canopy Biosciences, LLC.

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/canopy-biosciences-launches-service-to-simultaneously-analyze-700-genes-in-a-single-sample-300475087.html

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Canopy Biosciences Launches Service to Simultaneously Analyze >700 Genes in a Single Sample - PR Newswire (press release)

June 26, 2017 Credit: CC0 Public Domain

The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating development of new treatments and precision medicine.

The research, which generated over 20 million pieces of data, has found 360 new disease models and provides 28,406 new descriptions of the genes' effects on mouse biology and disease. The new disease models are being made available to the biomedical community to aid their research.

The International Mouse Phenotyping Consortium (IMPC) is aiming to produce a complete catalogue of mammalian gene function across all genes. Their initial results, now published in Nature Genetics, is based on an analysis of the first 3,328 genes (15 per cent of the mouse genome coding for proteins).

Lead author Dr Damian Smedley from Queen Mary University of London (QMUL) and a Monarch Initiative Principal Investigator, said: "Although next generation sequencing has revolutionised the identification of new disease genes, there is still a lack of understanding of how these genes actually cause disease.

"These 360 new disease models that we've identified in mice represent the first steps of a hugely important international project. We hope researchers will be able to use this knowledge to develop new therapies for patients, which is ultimately what we're all striving to achieve."

With its similarity to human biology and ease of genetic modification, the laboratory mouse is arguably the preferred model organism for studying human genetic disease. However, the vast majority of the mouse genome remains poorly understood, as scientists tend to focus their research on a few specific areas of the genome linked to the most common inherited diseases.

Development of therapies for rare disease lags far behind, with over half of diagnosed rare diseases still having no known causative gene. This is why the IMPC is aiming to build a complete database that systematically details the functions of all areas of the mouse genome, including neurological, metabolic, cardiovascular, respiratory and immunological systems.

Terry Meehan, IMPC Project Coordinator at European Bioinformatics Institute (EMBL-EBI) said: "Mouse models allow us to speed up patient diagnosis and develop new therapies. But before that can work, we need to understand exactly what each gene does, and what diseases it is associated with. This is a significant effort in data collection and curation that goes well beyond the capabilities of individual labs. IMPC is creating a data resource that will benefit the entire biomedical community."

The project involves going through the mouse genome systematically and knocking out a particular gene, one by one, in different mice. By looking at the mouse's resulting characteristics in a variety of standardised tests, the team then see if and how the gene knockout manifests itself as a disease, and link their findings to what is already known about the human version of the disease. The 'one by one' knockout approach lends itself to rare gene discovery, as often these diseases are caused by variants of a single gene.

More than half of the 3,328 genes characterised have never been investigated in a mouse before, and for 1,092 genes, no molecular function or biological process were previously known from direct experimental evidence. These include genes that have now been found to be involved in the formation of blood components (potentially involved in a type of anaemia), cell proliferation and stem cell maintenance.

For the first time, human disease traits were seen in mouse models for forms of Bernard-Soulier syndrome (a blood clotting disorder), Bardet-Biedl syndrome (causing vision loss, obesity and extra fingers or toes) and Gordon Holmes syndrome (a neurodegenerative disorder with delayed puberty and lack of secondary sex characteristics).

The team also identified new candidate genes for diseases with an unknown molecular mechanism, including an inherited heart disease called 'Arrhythmogenic Right Ventricular Dysplasia' that affects the heart muscle, and Charcot-Marie-Tooth disease, which is characterised by nerve damage leading to muscle weakness and an awkward way of walking.

Dr Smedley added: "In addition to a better understanding of the disease mechanism and new treatments for rare disease patients, many of the lessons we learn here will also be of value to precision medicine, where the goal is to improve treatment through the customisation of healthcare based on a patient's genomic information."

Explore further: Major mouse study reveals the role of genes in disease

More information: 'Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium' by Meehan et al., Nature Genetics. DOI: 10.1038/ng.3901

The functions of around 150 genes have been discovered by scientists across Europe in a major initiative to try to understand the part they play in disease and biology.

Roughly a third of all genes in the mammalian genome are essential for life. A new article in Nature, from an international, multi-institutional research team, including Baylor College of Medicine, describes the large-scale ...

The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine. The ...

An international team of researchers has discovered that mutations in the human gene CWC27 result in a spectrum of clinical conditions that include retinal degeneration and problems with craniofacial and skeletal development. ...

An international team of researchers from institutions around the world, including Baylor College of Medicine, has discovered that mutations of the OTUD6B gene result in a spectrum of physical and intellectual deficits. This ...

Researchers have created a large new resource of more than 900 genes switched off one-at-a-time in mice to discover which genes are important for a wide range of biological functions such as fertility or hearing.

The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating ...

Researchers have found that genes for coronary heart disease (CAD) also influence reproduction, so in order to reproduce successfully, the genes for heart disease will also be inherited.

When Ricky Ramon was 7, he went for a routine checkup. The pediatrician, who lingered over his heartbeat, sent him for a chest X-ray, which revealed a benign tumor in the top-left chamber of his heart. For Ramon, it was the ...

Gene mutations accumulating in cells are typical of the development of cancer. Finnish researchers have found that a similar accumulation of mutations occurs also in some patients with rheumatoid arthritis.

Up to 90 percent of people with amyotrophic lateral sclerosis (ALS) report that they have no family history of the disease. Now, new research has found approximately 17 percent of such ALS cases may be caused by a gene mutation, ...

(Medical Xpress)A team of researchers from Iceland, Finland and Germany has found evidence of a gene mutation in a large family in Iceland that explains why so many of them suffer from psychosis. In their paper published ...

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Characterizing the mouse genome reveals new gene functions and their role in human disease - Medical Xpress

June 26, 2017 New DNA-based LASSO molecule probe can bind target genome regions for functional cloning and analysis. Credit: Jennifer E. Fairman/Johns Hopkins University

Discovering the function of a gene requires cloning a DNA sequence and expressing it. Until now, this was performed on a one-gene-at-a-time basis, causing a bottleneck. Scientists at Rutgers University-New Brunswick in collaboration with Johns Hopkins University and Harvard Medical School have invented a technology to clone thousands of genes simultaneously and create massive libraries of proteins from DNA samples, potentially ushering in a new era of functional genomics.

"We think that the rapid, affordable, and high-throughput cloning of proteins and other genetic elements will greatly accelerate biological research to discover functions of molecules encoded by genomes and match the pace at which new genome sequencing data is coming out," said Biju Parekkadan, an associate professor in the Department of Biomedical Engineering at Rutgers University-New Brunswick.

In a study published online today in the journal Nature Biomedical Engineering, the researchers showed that their technologyLASSO (long-adapter single-strand oligonucleotide) probescan capture and clone thousands of long DNA fragments at once.

As a proof-of-concept, the researchers cloned more than 3,000 DNA fragments from E. coli bacteria, commonly used as a model organism with a catalogued genome sequence available.

"We captured about 95 percent of the gene targets we set out to capture, many of which were very large in DNA length, which has been challenging in the past," Parekkadan said. "I think there will certainly be more improvements over time."

They can now take a genome sequence (or many of them) and make a protein library for screening with unprecedented speed, cost-effectiveness and precision, allowing rapid discovery of potentially beneficial biomolecules from a genome.

In conducting their research, they coincidentally solved a longstanding problem in the genome sequencing field. When it comes to genetic sequencing of individual genomes, today's gold standard is to sequence small pieces of DNA one by one and overlay them to map out the full genome code. But short reads can be hard to interpret during the overlaying process and there hasn't been a way to sequence long fragments of DNA in a targeted and more efficient way. LASSO probes can do just this, capturing DNA targets of more than 1,000 base pairs in length where the current format captures about 100 base pairs.

The team also reported the capture and cloning of the first protein library, or suite of proteins, from a human microbiome sample. Shedding light on the human microbiome at a molecular level is a first step toward improving precision medicine efforts that affect the microbial communities that colonize our gut, skin and lungs, Parekkadan added. Precision medicine requires a deep and functional understanding, at a molecular level, of the drivers of healthy and disease-forming microbiota.

Today, the pharmaceutical industry screens synthetic chemical libraries of thousands of molecules to find one that may have a medicinal effect, said Parekkadan, who joined Rutgers' School of Engineering in January.

"Our vision is to apply the same approach but rapidly screen non-synthetic, biological or 'natural' molecules cloned from human or other genomes, including those of plants, animals and microbes," he said. "This could transform pharmaceutical drug discovery into biopharmaceutical drug discovery with much more effort."

The next phase, which is underway, is to improve the cloning process, build libraries and discover therapeutic proteins found in our genomes, Parekkadan said.

Explore further: Technical advances in reading long DNA sequences have ramifications in understanding primate evolution, human disease

More information: Long-adapter single-strand oligonucleotide probes for the massively multiplexed cloning of kilobase genome regions, Nature Biomedical Engineering (2017). DOI: 10.1038/s41551-017-0092

Technical advances in reading long DNA sequences have ramifications in understanding primate evolution and human disease.

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Cloning thousands of genes for massive protein libraries - Phys.Org