Category Archives: Gene Medicine

According to a study published in the journal Frontiers in Immunology, mind-body interventions such as mindfulness, yoga, Tai Chi, Qigong, relaxation response, and breath regulation dont simply relax us, they can reverse the molecular reactions in our DNA which cause ill-health and depression.

Ivana Buric et al analyze how the behavior of our genes is affected by different MBIs including mindfulness and yoga. Image credit: Nato Pereira.

When a person is exposed to a stressful event, the sympathetic nervous system the system responsible for the fight-or-flight response is triggered, in turn increasing production of a molecule called nuclear factor kappa B (NF-kB) which regulates how our genes are expressed.

NF-kB translates stress by activating genes to produce proteins called cytokines that cause inflammation at cellular level a reaction that is useful as a short-lived fight-or-flight reaction, but if persistent leads to a higher risk of cancer, accelerated aging and psychiatric disorders like depression.

However, people who practice mind-body interventions (MBIs) exhibit the opposite effect namely a decrease in production of NF-kB and cytokines, leading to a reversal of the pro-inflammatory gene expression pattern and a reduction in the risk of inflammation-related diseases and conditions, according to the study.

The inflammatory effect of the fight-or-flight response which also serves to temporarily bolster the immune system would have played an important role in mankinds hunter-gatherer prehistory, when there was a higher risk of infection from wounds, the authors said.

In todays society, however, where stress is increasingly psychological and often longer-term, pro-inflammatory gene expression can be persistent and therefore more likely to cause psychiatric and medical problems.

Millions of people around the world already enjoy the health benefits of mind-body interventions like yoga or meditation, but what they perhaps dont realize is that these benefits begin at a molecular level and can change the way our genetic code goes about its business, said lead author Ivana Buric, a PhD student at Coventry University, UK.

These activities are leaving what we call a molecular signature in our cells, which reverses the effect that stress or anxiety would have on the body by changing how our genes are expressed.

Put simply, MBIs cause the brain to steer our DNA processes along a path which improves our wellbeing.

More needs to be done to understand these effects in greater depth, for example how they compare with other healthy interventions like exercise or nutrition.

But this is an important foundation to build on to help future researchers explore the benefits of increasingly popular mind-body activities, Buric said.

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Ivana Buric et al. What Is the Molecular Signature of Mind-Body Interventions? A Systematic Review of Gene Expression Changes Induced by Meditation and Related Practices. Front. Immunol, published online June 16, 2017; doi: 10.3389/fimmu.2017.00670

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GE and the Mayo Clinic back software to bring cancer-fighting gene therapies to market TechCrunch So GE (through its GE Ventures arm), the Mayo Clinic (through Mayo Clinic Ventures) and the venture investment firm DFJ have invested $13.75 million to back Vineti a software platform that the companies are billing as a solution to gene therapy's ... GE Ventures, Mayo Clinic Ventures and DFJ Invest $13.75M in First Software Platform to Accelerate Cancer Cure ...GlobeNewswire (press release) all 4 news articles »

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GE and the Mayo Clinic back software to bring cancer-fighting gene therapies to market - TechCrunch

Reviewed by Edwin M. Stone, MD, PhD

Though gene therapy technology already exists to treat most inherited retinal disease, the current challenge is to drive down the costs of implementing the technologythus availing more patients with the benefits of treatments and possibly prevent inevitable visual deterioration.

Edwin M. Stone, MD, PhD, recounted the case of a 14-year-old boy with an inherited eye disease who was born deaf and received bilateral cochlear implants during the first years of his life. The boys visual acuity levels were 20/25 and 20/32 in the right and left eyes, respectively. Despite good visual acuity, more recently, he had been having difficulty seeing in dim light.

A Goldmann perimetry evaluation showed normal responses to large, bright stimuli. However, there was some restriction at the 12e and 14e isopters, explained Dr. Stone, director, Stephen A. Wynn Institute for Vision Research, and professor, Department of Ophthalmology and Vision Sciences, University of Iowa, Iowa City.

A fundus examination showed that both discs were normal and the vessels were slightly constricted. Some pigmentation was present in the midperipheral retina.

Based on these findings, deafness at birth, and retinitis pigmentosa at the beginning of the second decade of life, the patient was given a diagnosis of type I Usher syndrome. Molecular testing showed the presence of the two most common mutations in the USH1C gene, i.e., Val72Val (a splice variant) and Thr78insC.

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Tapping gene therapy potential for inherited retinal diseases - ModernMedicine

The Scientist

New Antibiotic Resistance Genes Found in Soil Microbes The Scientist The particularly surprising result is the discovery of a gene that encodes for an unusual small proline-rich polypeptide that confers resistance to the macrolide antibiotics, very important in human and animal medicine, Topp says. Macrolide ...

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New Antibiotic Resistance Genes Found in Soil Microbes - The Scientist

June 20, 2017 by Jane Langille This is a projection image displaying all of the colon organoid layers. The green represents cells that line the colon called epithelial cells; the red represents an increase in the number of cells that are proliferating; and the blue represents the staining of all cells. Credit: Dr. Miguel Crespo/Weill Cornell Medicine

The first-ever "disease in a Petri dish" platform that models human colon cancer derived from stem cells has been developed by Weill Cornell Medicine investigators, allowing them to identify a targeted drug treatment for a common, inherited form of the disease. The discovery also overcomes a long-standing challenge of using mice to research this form of cancer, as they do not typically develop the disease.

In the study, published June 19 in Nature Medicine, the scientists used human-induced pluripotent stem cells (iPSCs), which can in principle differentiate into any type of cell in the body, that were derived from the skin of two patients with an inherited form of colorectal disease called familial adenomatous polyposis (FAP). With FAP, large intestine cells develop into numerous polyps that for these patients eventually become colon cancer. Using iPSCs, they developed 3-D structures called colonic organoids that closely represented large intestine tissue systems and then performed drug testing.

"Creating an effective testing platform for human colon cancer has been a challenge for the entire field," said co-senior study author Todd Evans, the Peter I. Pressman, M.D. Professor in Surgery and professor of cell and developmental biology in surgery at Weill Cornell Medicine. "The protocols for modeling human colon disease for drug testing just weren't there until our team developed a stem-cell-based large intestine tissue system."

Colon and rectal cancers are the second-leading cause of cancer deaths in America. In 2017, it is estimated that 50,260 people will die from the disease and 135,430 new cases will be diagnosed.

The investigators confirmed through a variety of steps including genomic DNA sequencing and gene expression profiling that they had grown large intestine cells with either of two different FAP mutations, FAP8 or FAP9, and that a gene that when mutated allows FAP cells to grow out of control, called APC, was inactivated. They also created colonic organoids using stem cells derived from a person without FAP for comparison.

Next, they tested the colonic organoids with drugs to measure response. The researchers found that two drugs, XAV939 and rapamycin, significantly curbed cell proliferation; but also, significantly decreased growth in the organoids developed without FAP, suggesting that those drugs could harm healthy colon tissue. Another drug, geneticin, known for its ability to rescue gene activity for some types of mutations, successfully restored normal growth in the FAP9 organoids, yet had no impact on the FAP8 or healthy control organoids.

"Our results demonstrate that we can use this platform to model colon cancer and identify precision medicines that may work to target specific genetic mutations driving the disease," said co-senior author Shuibing Chen, associate professor of chemical biology in surgery and of biochemistry at Weill Cornell Medicine.

"The beauty is that we can make patient-specific organoids," Evans added, "increasing the likelihood of predicting which drugs may work and learn about any undesirable effects, all before we treat the patients."

Explore further: Three-pronged approach is key to precision medicine

More information: Miguel Crespo et al. Colonic organoids derived from human induced pluripotent stem cells for modeling colorectal cancer and drug testing, Nature Medicine (2017). DOI: 10.1038/nm.4355

Journal reference: Nature Medicine

Provided by: Cornell University

Combining genetic information from a patient's tumor cells with three-dimensional cell cultures grown from these tumors and rapidly screening approved drugs can identify the best treatment approaches in patients for whom ...

Using the gene-editing system known as CRISPR, MIT researchers have shown in mice that they can generate colon tumors that very closely resemble human tumors. This advance should help scientists learn more about how the disease ...

A study, published today in Cell, demonstrates the power of organoids to capture, in three dimensions, the multiple mutations that occur in tumours. Organoids, small clusters of cells that accurately mimic the behaviour of ...

Compounds from grapes may kill colon cancer stem cells both in a petri dish and in mice, according to a team of researchers.

Using Induced pluripotent stem cells (iPSCs), researchers have for the first time profiled the complete genetic programs of early lung progenitors identifying genes that control lung formation and have created mini-lung organoids ...

The first-ever "disease in a Petri dish" platform that models human colon cancer derived from stem cells has been developed by Weill Cornell Medicine investigators, allowing them to identify a targeted drug treatment for ...

Wanted: 10,000 New Yorkers interested in advancing science by sharing a trove of personal information, from cellphone locations and credit-card swipes to blood samples and life-changing events. For 20 years.

Silk is an unlikely substitute for steel in any context, but for bone fractures, it may just be the perfect thing.

Researchers at Karolinska Institutet in Sweden have obtained the first 3D snapshots of a sperm protein attached to a complementary egg coat protein at the beginning of fertilisation. The study, which reveals a common egg ...

As we bask in the summer heat, it is easy to take for granted that humans are also prepared for the cold of winter, with overcoats in the closet and home heating systems ready to be fired up as an added assurance against ...

Organs-on-Chips (Organ Chips) are emerging as powerful tools that allow researchers to study the physiology of human organs and tissues in ways not possible before. By mimicking normal blood flow, the mechanical microenvironment, ...

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Human tissue model developed to test colon cancer drugs - Medical Xpress

Precision medicine is more hype than reality right now but, at the same time, the incredible potentialit holds for the future is even greater than all the buzz teases today.

Thats what I came away with from the Precision Medicine Summit in Boston this week.

Lets look into the distant future: A patient walks into a hospital to meet with clinicians who run tests and pinpoint a biomarker for, say, Alzheimers. Then a gene surgeon does some on-the-spot genome editing. The patient walks out with that Alzheimers-free-for-life feeling.

Primary care andgenome sequencing will come to the forefrontto identify which patients can benefit in a future where genome editing is widespread, said Ross Wilson, principal investigator at the University of California Berkeleys Institute for Quantitative Biosciences.

Just how widespread can precision medicine get? Well, Eric Dishman, who spearheads the NIHs All of Us program said the program is starting off with the goal of attracting 1 million American participants but is already thinking about how toscale that into the billionsglobally.

Getting genomic data into an EHR The grand vision is to democratize research and apply more brainpower per problem to the most vexing medical issues.

Before we can get there, though, a lot has to happen to hammer out data gathering and sharing capabilities, retool the healthcare system so its much more adaptable to change and ultimately modernize IT infrastructure to support precision medicine and all the data that entails.

Robert Green, MD, a medical geneticist and physician-scientist at Brigham and Womens Hospital and Harvard Medical School predicted skirmishes,if not all-out war, over genetic and genomic screening practices: with clinicians and patients on one side, calling for as much information as they can possibly get, versus public health officials and others, warning about the unforeseeable consequences of over-screening.

Among the reasons that people are refusing to participate in genetic testing is fear of discriminationby life, disability or long-term care insurance companies, according to Mayo Clinic Department of Laboratory Medicine and Pathology attorney Sharon Zehe. She added that the whole scenario puts providers in an awkward position because even among patients who are willing to undergo screening, many dont want that data to live in their medical records.

Not that getting genetic data into a medical record is exactly easy. One of the fascinating accounts at the conference was Washington University genetics fellow and bioinformaticist Nephi Walton explaining how it took nine months working with Epic to include genetic results into the EHR. You can make a human in that time, Walton said to laughter from the audience as he turned to a slide with a baby picture.

Precision medicine architecture emerging While its true that todays EHRs and IT infrastructure are not ready for the big data needs of precision medicine and I saw that thesame thing is true about population healthlast month at least one architecture is emerging.

Indeed, the strategy of harnessing FHIR standards, with mobile phones as middleware and a common data repository outside the EHR, is an apt way to manage the demands of precision medicine, said John Halamka, MD, CIO of Beth Israel Deaconess Medical Center. The idea is to maximize what patients already have in their homes.

That approach also gives patients more controlover who can and cannot share their data, including researchers, which India Hook-Barnard, director of strategy and associate director of precision medicine at University of California, San Francisco, said it is both the right thing to do and sound science.

But even the architecture Halamka described and giving patients more control over data sharing will not conquer all precision medicine challenges, of course. Michael Dulin, MD, director of the academy for population health innovation at the University of North Carolina Charlotte said simply dumping a whole heap of genomic data on top of the already broken healthcare system, replete with huge variances and medical errors, may actually yield worse outcomes than we have today.

We have to use technology, we need AI, Dulin said. We cannot do this without it.

Walton noted that first we need simple artificial intelligence and machine learning algorithms just to clean up healthcares messy data so its suitable for more sophisticated AI tools.

Becoming'precision health' What was perhaps the boldest prediction to emerge from the conference came from Bryce Olsen, global strategist for Intels Health and Life Sciences unit: Patients will start asking for precision medicine in the second half of 2017 though many of them will not even realize what theyre requesting.

Patients are going to demand that doctors get a better understanding of underlying drivers of disease and defects in their tumor. Were going to see this for cancer first, Olsen said. Doctors that dont have good answers will see patients bounce.

Ill add one more to the mix: Precision medicine, in both term and concept, will be supplanted by the phrase precision health and, yes, this is distinct from how Im seeing digital health become digital medicine.

Precision health, said Megan Mahoney, chief of primary care in Stanfords population health division, is a fundamental shift to a more proactive and personalized approach that empowers people to live healthy lives.

Twitter:SullyHIT Email the writer:tom.sullivan@himssmedia.com

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