Category Archives: Gene Medicine

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Study finds genetic basis for drug response in childhood absence epilepsy National Institutes of Health (press release) A team led by Tracy A. Glauser, M.D., director of the Comprehensive Epilepsy Center at Cincinnati Children's Hospital Medical Center and professor of pediatrics in the University of Cincinnati College of Medicine, investigated whether there may be a ... and more »

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Study finds genetic basis for drug response in childhood absence epilepsy - National Institutes of Health (press release)

IBS Center for Genome Engineering Director Kim Jin-Soo was recognized for his work on making CRISPR-Cas9 technology more precise and stable.

Asian Scientist Newsroom | April 12, 2017 | Top News

AsianScientist (Apr. 12, 2017) - Professors Kim Jin-Soo and Han Duck-Jong have been honored with the 10th ASAN Award in Basic Medicine and Clinical Medicine, respectively. The ASAN Award for Young Medical Scientists went to Professor Choi Jung-Kyoon at the Department of Bio and Brain Engineering at KAIST and Professor Ahn Jung-Min at the Department of Cardiology at the University of Ulsan College of Medicine.

The basic and clinical medicine winners each received 300 million won (~US$262,000) while the Young Medical Scientists received 50 million won (~US$44,000) at an awards ceremony held on March 20, 2017.

The ASAN Award in Medicine was established in 2007 by the ASAN Foundation to discover and encourage medical scientists who have achieved remarkable accomplishments in the fields of basic and clinical medicine.

Kim, who is the Director of the Institute for Basic Science Center for Genome Engineering, was recognized for his work on making the CRISPR-Cas9 gene editing system more precise and stable.

Using genome editing techniques, I'd like to focus on research which is helpful for patients with genetic and degenerative diseases as well as cancer that are considered intractable. I'll strive harder to develop and commercialize treatments that can directly help such patients, he said.

This honor is largely attributed to the dedicated researchers who have worked with me. I see this award as encouragement for me to contribute to society and humanity by devoting myself more to research.

Source: Institute for Basic Science; Photo: ASAN Foundation. Disclaimer: This article does not necessarily reflect the views of AsianScientist or its staff.

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Gene Editing Researcher Receives ASAN Award In Basic Medicine - Asian Scientist Magazine

April 12, 2017 by Anna Williams The top row indicates mice with glioblastoma controlled for tumor size. The bottom row shows their expression of MGMT, a protein that makes tumor cells more resistant to chemotherapy. The left is a control, while the right shows significantly decreased levels of MGMT after treatment with the nanoparticles. Credit: Northwestern University

Northwestern Medicine scientists have developed a novel testing platform to assess, in real time, the efficacy of nanomaterials in regulating gene expression. The findings, published in Proceedings of the National Academy of Sciences, could help to facilitate preclinical investigations and optimize nanotherapeutics for cancers before they reach clinical trials.

Timothy Sita, a seventh-year MD/PhD student in the Medical Scientist Training Program, was the first author of the study, which looked at the platform in animal models.

"This is an important step forward for the field," said principal investigator Alexander Stegh, PhD, assistant professor of Neurology and of Medicine. "The very thorough optimization that we see in conventional drug development had been missing in the nanotech space, and we felt very strongly about changing this. The system that we developed here really allows us to support those efforts, and evaluate our nanoparticles in the most relevant models, in an in vivo setting."

Chad Mirkin, PhD, the George B. Rathmann Professor of Chemistry in theWeinberg College of Arts and Sciences and a professor of Medicine in the Division of Hematology/Oncology, was also a corresponding author of the paper.

The scientists demonstrated the concept while using nanostructures called spherical nucleic acids (SNAs) to target a resistance factor gene in glioblastoma, an aggressive, incurable type of brain tumor.

SNAs, first developed by Mirkin at Northwestern in 1996, consist of dense strands of RNA packed around a nanoparticle core. Because of their unique properties, SNAs are capable of both crossing the blood-brain barrier and entering into tumor cells, where they can directly target gene activity that encourages cancer growth.

While these conjugates are a promising tool in the era of precision medicine, scientists previously lacked a quantitative method to assess how SNAs regulated gene activity in living organisms, which would provide new insights into how to optimize the therapies.

"We've seen that these particles can basically target any cancer gene, but we didn't know when they worked best or what dosing regimens to use," Sita said. "As such, preclinical trials weren't as successful as they could have been."

In the current study, the scientists showed that by using a type of non-invasive imaging on the mice, they could gauge in real time how the nanoparticles affected levels of an intratumoral target protein.

"Now we can tweak these particlesplay with the shape of the nanoparticle, or how much RNA we load onto the particle, for exampleand then assess very quickly whether those changes are more effective or not," Sita explained. "It's a platform to help optimize the drugs in mice before they go to human trials, and make something that will translate better to the clinic."

While the method could be generalizable to investigating nanotherapeutics for many types of cancers, the study also has clinical implications unique to glioblastoma.

The scientists developed nanoparticles to knock down O6-methylguanine-DNA methyltransferase (MGMT)a protein which reduces the impact of chemotherapyin mice with glioblastoma. Through the imaging platform, they discovered that mice had the lowest levels of the protein between 24 to 48 hours after receiving the nanoparticles, suggesting the optimal time to administer chemotherapy.

"We showed a very significant reduction in tumor volume when we combined these particles with the chemotherapy," Sita said. "By silencing this gene that's causing resistance to the chemotherapy, we can have a much more profound response. That's the key clinical angle."

Explore further: Cancer genes deactivated in deadly brain cancer

More information: Timothy L. Sita et al. Dual bioluminescence and near-infrared fluorescence monitoring to evaluate spherical nucleic acid nanoconjugate activity in vivo, Proceedings of the National Academy of Sciences (2017). DOI: 10.1073/pnas.1702736114

Northwestern Medicine scientists have identified a small RNA molecule called miR-182 that can suppress cancer-causing genes in mice with glioblastoma mulitforme (GBM), a deadly and incurable type of brain tumor.

Glioblastoma multiforme (GBM), the brain cancer that killed Sen. Edward Kennedy and kills approximately 13,000 Americans a year, is aggressive and incurable. Now a Northwestern University research team is the first to demonstrate ...

Northwestern University's Chad A. Mirkin, a world-renowned leader in nanotechnology research and its application, has invented and developed a powerful material that could revolutionize biomedicine: spherical nucleic acids ...

The University of Delaware's Emily Day is a part of a team of researchers that has developed a nanotherapeutic capable of penetrating the blood-brain barrier.

A new high-tech but simple ointment applied to the skin may one day help diabetic patients heal stubborn and painful ulcers on their feet, Northwestern University researchers report.

A research team led by Northwestern University nanomedicine expert Chad A. Mirkin and Sergei Gryaznov of AuraSense Therapeutics is the first to show spherical nucleic acids (SNAs) can be used as potent drugs to effectively ...

When you charge a battery, or when you use it, it's not just electricity but also matter that moves around inside. Ions, which are atoms or molecules that have an electric charge, travel from one of the battery's electrodes ...

University of Arkansas researchers have discovered a simple and scalable method for turning graphene oxide into a non-flammable and paper-like graphene membrane that can be used in large-scale production.

Northwestern Medicine scientists have developed a novel testing platform to assess, in real time, the efficacy of nanomaterials in regulating gene expression. The findings, published in Proceedings of the National Academy ...

A new atomically thin material similar to graphene has been proven to be a promising new superconductive material.

For the lithium-oxygen battery system, it is well recognized the charging and discharging reaction produces peculiar reaction product shapes that resemble doughnuts and balloons. Yet, how these shapes form has remained a ...

(Phys.org)U.K.-based Surrey Nanosystems has announced that it has improved on the original Vertically Aligned Nanotube Array BLACK (Vantablack coating) which the company claimed to be the blackest material ever made. The ...

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Scientists develop platform to investigate therapeutic nanomaterials - Phys.Org

REDWOOD CITY, CA--(Marketwired - Apr 12, 2017) - CardioDx, Inc., a molecular diagnostics company specializing in cardiovascular genomics, announced today the publication of results from the multi-center, community-based PRESET Registry in the peer-reviewed journal, The American Journal of Medicine.1 The study results provided further confirmation of the clinical utility of the Corus CAD test to help clinicians in real-world practice determine if their patients' symptoms are due to a blockage in the heart arteries, and if referral to cardiology or to advanced cardiac testing was necessary.Previously validated with a 96% negative predictive value and 89% sensitivity, the Corus CAD test is a precision medicine blood test that integrates age, sex, and gene expression levels into a single score indicating the current likelihood of a significant narrowing or blockage in the coronary arteries, also known as obstructive* coronary artery disease (CAD).

The PRESET Registry (NCT01677156, clinicaltrials.gov) demonstrated that patients with low Corus CAD scores (defined as 15) were less likely to undergo cardiac referral, were unlikely to have positive findings on further cardiac work-up, and had a low rate of adverse cardiovascular events at one year follow-up.

Every day, approximately 8,000 patients present to primary care clinics with signs and symptoms of obstructive CAD. Yet, a review of published patient data suggests that only 10% of patients presenting with chest pain to primary care clinicians for evaluation are actually found to have CAD. The majority of chest pain symptoms are caused by non-cardiac sources such as heartburn, muscle spasm, anxiety, or lung-related conditions.2

"The PRESET Registry provides doctors and patients with further evidence that, as a first-line assessment tool for patients with symptoms suggestive of CAD in outpatient clinics, the age, sex, and gene expression score (Corus CAD) can safely and reliably help clinicians direct cardiac care," said Joseph A. Ladapo, Assistant Professor, Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine at University of California at Los Angeles. "Patients with low scores were less likely to undergo further cardiac evaluation and testing, and this saves some patients from being unnecessarily exposed to the risks of cardiac procedures and radiation from cardiac nuclear imaging, along with the costs associated with pursuing advanced cardiovascular testing."

The primary objective of the study was to evaluate the clinical utility or impact of the Corus CAD test on medical decision-making, specifically cardiac referrals. Results demonstrated that patients with low Corus CAD scores ( 5) had an 85% decreased odds of referral for further cardiac evaluation or testing versus elevated Corus CAD scores ( > 15). Only 10% of patients with low Corus CAD test scores versus 44% of elevated scoring patients were referred by clinicians to cardiology or for advanced cardiac testing (unadjusted Odds Ratio (OR) = 0.15, p < 0.0001; adjusted OR after accounting for clinical covariates = 0.18, p < 0.001). Furthermore, when evaluating the Corus CAD score as a continuous variable from 1-40, the higher the Corus CAD score, the more likely the patient was to undergo cardiac referral. Major adverse events and revascularization were noted in 1.2% (3/252) of patients with low Corus CAD scores and 4.5% (14/314) of patients with elevated Corus CAD scores (p < 0.03).

"The need for better cardiac care and safer tests has always been the goal of the Corus CAD test," said Mark Monane, MD, FACP, Chief Medical Officer of CardioDx. "The final analysis of the PRESET Registry showed that clinicians are integrating the Corus CAD test into real-world clinical decision-making to help risk stratify patients to the appropriate care pathway. Incorporating the Corus CAD test into the primary care setting provides an opportunity for patients, healthcare providers, and managed care payers to benefit, as expensive and potentially risky cardiac tests or procedures may be avoided in patients with low Corus CAD scores."

About the PRESET Registry The PRESET Registry (A Registry to Evaluate Patterns of Care Associated with the Use of Corus CAD in Real World Clinical Care Settings) assessed the effects of the Corus CAD score on clinical decision-making in stable non-diabetic patients without a history of obstructive CAD. The analysis included patients from 21 primary care practices from the time period of September 2012 through August 2014. This final endpoint analysis included 566 patients with typical or atypical symptoms suggestive of obstructive CAD and one-year follow-up post-Corus CAD testing.

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About Obstructive Coronary Artery Disease Coronary artery disease (CAD) is a very common heart condition in the United States. One in seven deaths among Americans is caused by CAD.3 CAD can cause a narrowing or blockage of the coronary arteries (vessels to the heart that supply the heart with blood, oxygen, and nutrients), reducing blood flow to the heart muscle. This narrowing or blockage in the coronary arteries is often referred to as obstructive CAD, characterized by the presence of atherosclerosis, or plaque.

About the Corus CAD Test Corus CAD is the first and only commercially available blood test that can safely and conveniently help primary care clinicians and cardiologists assess whether or not a stable non-diabetic patient's symptoms may be due to obstructive coronary artery disease. The test incorporates age, sex and gene expression measurements into a single score that indicates the likelihood of obstructive CAD. Clinicians use the Corus CAD score, along with other clinical information, to determine whether further cardiac testing is necessary, which can help patients avoid unnecessary exposure to radiation associated with medical imaging testing, as well as possible reactions to imaging dyes and/or potential complications from invasive cardiac tests requiring catheterization. The test involves a routine blood draw that is conveniently administered in the clinician's office. The Corus CAD test is the only sex-specific test for the evaluation of obstructive CAD because it accounts for cardiovascular differences between men and women.

The test has been clinically validated in independent male and female patient cohorts, including two prospective, multicenter U.S. studies, PREDICT and COMPASS.4,5 In the COMPASS study, the Corus CAD test outperformed myocardial perfusion imaging (MPI) as a diagnostic tool to exclude obstructive CAD by demonstrating a higher negative predictive value (96% vs. 88%, p < 0.001) than MPI for assessing the presence of obstructive CAD.6 To date, over 220,000 Corus CAD test results have been provided to clinicians. CardioDx processes all Corus CAD test samples at its CLIA-certified and CAP-accredited clinical laboratory in Redwood City, California.

The Corus CAD test has been recognized by The Wall Street Journal's Technology Innovation Awards, honored as a Gold Edison Award recipient, and named one of TIME's Top 10 Medical Breakthroughs.

About CardioDx CardioDx, Inc., a molecular diagnostics company specializing in cardiovascular genomics, is committed to developing clinically validated tests that empower clinicians to better tailor care to each individual patient. Strategically focused on coronary artery disease, CardioDx is committed to expanding patient access and improving healthcare quality and efficiency through the commercialization of genomic technologies. Please visit http://www.cardiodx.com for additional information.

For media inquiries, please contact Glenn Silver of Lazar Partners, +1-212-871-8485, gsilver@lazarpartners.com.

* Obstructive CAD is defined as at least one atherosclerotic plaque causing 50% luminal diameter stenosis in a major coronary artery (1.5 mm lumen diameter) as determined by invasive quantitative coronary angiography (QCA) or coronary computed tomography angiography (CTA) (2.0 mm).

1 Ladapo JA, Budoff M, Sharp D, et al. Clinical Utility of a Precision Medicine Test Evaluating Outpatients with Suspected Obstructive Coronary Artery Disease.Am J Med. 2017;130(4):482.e11-482.e17. 2 Cayley WE Jr. Diagnosing the Cause of Chest Pain. Am Fam Physician. 2005;72(10);2012-2021. 3 Mozaffarian D, Benjamin EJ, Go AS, et al. On Behalf of the American Heart Association Statistics Committee and Stroke Statistics Subcommittee. Heart Disease and Stroke Statistics - 2016 Update: A Report from the American Heart Association. Circulation. 2016;133(4):e38-e360. 4 Rosenberg S, Elashoff MR, Beineke P, et al. Multicenter Validation of the Diagnostic Accuracy of a Blood-Based Gene Expression Test for Assessing Obstructive Coronary Artery Disease in Nondiabetic Patients. Ann Intern Med. 2010;153:425-434. 5 Thomas GS, Voros S, McPherson JA, et al. A Blood-Based Gene Expression Test for Obstructive Coronary Artery Disease Tested in Symptomatic Nondiabetic Patients Referred for Myocardial Perfusion Imaging: The COMPASS Study. Circ Cardiovasc Genet. 2013;6(2):154-162. 6 The COMPASS study demonstrated that the Corus CAD algorithm has an NPV of 96% at the pre-specified threshold of 15 in a population of men and women referred to MPI.

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New Study Published in The American Journal of Medicine Expands the Clinical Evidence Underscoring the Value of ... - Yahoo Finance

By Eric Sorensen, WSU science writer

SPOKANE, Wash. Washington State University researchers have seen how a particular gene is involved in the quality of sleep experienced by three different animals, including humans. The gene and its function open a new avenue for scientists exploring how sleep works and why animals need it so badly.

Sleep must be serving some important function, but as scientists we still dont understand what that is, said Jason Gerstner, assistant research professor in WSUs Elson S. Floyd College of Medicine and lead author of a paper in the open-access journal Science Advances. One way to get closer to that is by understanding how it is regulated or what processes exist that are shared across species.

As a doctoral student at the University of Wisconsin, Gerstner looked at genes that change expression over the sleep-wake cycle and found expression of the gene FABP7 changed over the day throughout the brain of mice.

He and colleagues saw that mice with a knocked out FABP7 gene slept more fitfully compared to mice with the gene intact. This suggested the gene is required for normal sleep in mammals.

To see if FABP7 is indeed required for normal sleep in humans, Gerstner and colleagues in Japan looked at data from nearly 300 Japanese men who underwent a seven-day sleep study that included an analysis of their DNA. It turned out that 29 of them had a variant of the gene responsible for the production of FABP7.

Like the mice, they tended to sleep more fitfully. While they would get the same amount of sleep as other people, their sleep was not as good, with more waking events when they should be sleeping.

Finally, the researchers made transgenic fruit flies. They inserted mutated and normal human FABP7 genes into star-shaped glial cells called astrocytes. Glial cells were long thought to be mere supporting characters to neurons, the processors of information in the brain. But researchers more recently have found that, like neurons, glial cells release chemical neurotransmitters and control behavior.

To monitor the flies sleep, the researchers used a commercial Drosophila activity monitor that automatically records activity changes using an infrared beam to determine if a fly is awake or asleep. If the beam is unbroken for five or more minutes, the machine concludes the fly is asleep.

It turned out that flies with the mutated FABP7 gene broke the beam more frequently during the normal sleep time. Like mice and humans without a properly functioning FABP7 gene, mutant FABP7 flies slept more fitfully.

This suggests that theres some underlying mechanism in astrocytes throughout all these species that regulates consolidated sleep, said Gerstner.

Moreover, he said, Its the first time weve really gained insight into a particular cells and molecular pathways roles in complex behavior across such diverse species.

Even more remarkable is that fruit flies have been on the planet for some 60 million years.

That suggests we have found an ancient mechanism that persisted over evolutionary time, he said. Evolution does not keep something around that long if it is not important.

While the researchers are excited about finding a gene with an apparently strong influence on sleep, they stress that other genes are almost certainly involved in the process.

FABP7 proteins are involved in what is called lipid signaling, shuttling fats to a cell nucleus to activate genes controlling growth and metabolism. Gerstner and his colleagues will now look to see how these functions might intersect with theories about why sleep matters. Among those theories are that sleep is important for neuronal activity, energy use and storage, and memory and learning.

Gerstners collaborators include scientists in Japan, Wisconsin and Pennsylvania, as well as WSU research intern Samantha Riedy, WSU professor Marcos Frank, and Hans Van Dongen, director of the WSU Sleep and Performance Research Center.

Funders include the National Institutes of Health and the U.S. Office of Naval Research.

The research is in keeping with WSUs Grand Challenges, major initiatives aimed at large societal problems. It is particularly relevant to the Sustaining Health challenge.

News media contact: Jason Gerstner, WSU Elson S. Floyd College of Medicine, 509-368-6660, j.gerstner@wsu.edu

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'Sleep gene' offers clues about why we need our zzzs - WSU News

Science Daily

Small protein is fundamental to muscle formation Science Daily Dr. Eric Olson, Chairman of Molecular Biology, Co-Director of the Wellstone Muscular Dystrophy Center, and Director of the Hamon Center for Regenerative Science and Medicine, led research that identified a protein essential to muscle formation and ...

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Small protein is fundamental to muscle formation - Science Daily

Genetic testing company 23AndMe is back with a controversial new offering, after the U.S. Food and Drug Administration on Thursday green-lighted the companys request to market a fresh batch of direct-to-consumer tests. Soon, with a simple saliva swab dropped in the mail, customers will be able to get answers about their genetic risk for developing 10 maladiesincluding Parkinsons disease and late-onset Alzheimers.

The FDA approval will likely reignite a long-simmering debate about when and how such tests should be used. Even when there are strong links between certain gene variants and medical conditions, genetic information often remains difficult to interpret. It must be balanced against other factors including health status, lifestyle and environmental influences, which could sharpen or weaken risk. If disease risk news is delivered at homewithout a genetic counselor or doctor on hand to offer contextmany geneticists fear it can lead to unnecessary stress, confusion and misunderstandings.

Against that backdrop, the FDAs decision came with caveats: Results obtained from the tests should not be used for diagnosis or to inform treatment decisions, the agency said in a statement. It added that false positive and false negative findings are possible.

But geneticist Michael Watson, executive director of the American College of Medical Genetics and Genomics, thinks consumers will have trouble making such distinctions and says he doubts people will view them as a mere novelty. Watson also worries 23AndMes wares may create other problems: Follow-up testing for some of these conditions may be quite pricey, he says, and insurance companies might not cover that cost if a person has no symptoms. He also notes that some of the conditions involved may have no proved treatments, leaving consumers with major concernsand few options to address them, aside from steps like making some lifestyle changes.

The makeup of 23AndMes reports to consumers is still being finalized, but the company says it does not expect to grade or rank a persons risk of developing any of the 10 conditions approved for analysis. Instead it will simply report a person has a gene variant associated with any of the maladies and is at an increased risk, the company told Scientific American.

The FDA decision may significantly widen the companys market and top off a years-long debate about what sort of genetic information should be available to consumers without professional medical oversight. After the FDAs 2013 decision to stop 23AndMe from sharing data about disease risk with its customers, the company was still able to offer them information about their genetic ancestry. It has also been selling consumer tests for genes that would indicate whether people are carriers for more than 30 heritable conditions, including cystic fibrosis and Tay-Sachs disease.

This month 23AndMe plans to release its first set of genetic health-risk reports for late-onset Alzheimers disease, Parkinsons disease, hereditary thrombophilia (a blood-clotting disorder), alpha 1-antitrypsin deficiency (a condition that raises the risk of lung and liver disease), and a new carrier status report for Gauchers disease (an organ and tissue disorder). Reports for other tests will follow, the company says.

In considering whether to approve the tests, the FDA says it reviewed studies that demonstrated the 23AndMe procedures correctly and consistently identified variants associated with the 10 conditions. Further data from peer-reviewed scientific literature demonstrated the links between these gene variants and conditions, and supported the underlying science.

The FDA also announced on Thursday that it plans to offer the company exemptions for similar genetic tests in the future, without requiring them to be submitted for premarket review. That decision could leave the door open to offering tests for other conditions that have questionable reproducibility, says Jim Evans, a genetics and medicine professor at the University of North Carolina School of Medicine.

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Too Much Information? FDA Clears 23AndMe to Sell Home Genetic Tests for Alzheimer's and Parkinson's - Scientific American

People withanorexia nervosahave a distorted body image and severely restrict their food to the point of emaciation and sometimes death. It's long been treated as a psychological disorder, but that approach has had limited results; the condition has one of the highest mortality rates among psychiatric conditions. But recently, neuroscience researchers at the UC San Diego School of Medicine who study the genetic underpinnings of psychiatric disorders have identified a possible gene that appears to contribute to the onset of the disease, giving scientists a new tool in the effort to understand the molecular and cellular mechanisms of the illness.

The study, published in Translational Psychiatry, was led by UC San Diego's Alysson Muotri, a professor at theSchool of Medicines departments of pediatrics and cellular and molecular medicine and associate co-director of the UCSD Stem Cell Program. His team took skin cells known as fibroblasts from seven young women with anorexia nervosa who were receiving treatment at UCSDs outpatient Eating Disorders Treatment and Research Center, as well as from four healthy young women (the study's controls). Then the team initiated the cells to become induced pluripotent stem cells (iPSCs).

The technique, which won researcher Shinya Yamanaka the Nobel Prize in 2012, takes any nonreproductive cell in the body and reprograms it by activating genes on those cells. You can push the cells back into the development stage by capturing the entire genome in a pluripotent stem cell state, similar to embryonic stem cells, Muotri tells mental_floss. Like natural stem cells, iPSCs have the unique ability to develop into many different types of cells.

Once the fibroblasts were induced into stem cells, the team differentiated the stem cells to become neurons. This is the most effective way to study the genetics of any disorder without doing an invasive brain biopsy, according to Muotri. Also, studying animal brains for this kind of disorder wouldnt have been as effective. At the genetic level as well as the neural network, our brains are very different from any other animal. We dont see chimpanzees, for example, with anorexia nervosa. These are human-specific disorders, he says.

Once the iPSCs had become neurons, they began to form neural networks and communicate with one another in the dish similar to the way neurons work inside the brain. Basically what we have is an avatar of the patients brain in the lab, Muotri says.

His team then used genetic analysis processes known as whole transcriptome pathway analysis to identify which genes were activated, and which might be associated with the anorexia nervosa disorder specifically.

They found unusual activity in the neurons from the patients with anorexia nervosa, helping them identify a gene known as TACR1, which uses a neurotransmitter pathway called the tachykinin pathway. The pathway has been associated with other psychiatric conditions such as anxiety disorders, but more pertinent to their study, says Mutori, is that tachykinin works on the communication between the brain and the gut, so it seems relevant for an eating disorderbut nobody has really explored that. Prior research on the tachykinin system has shown that it is responsible for the sensation of fat. So if there are misregulations in the fat system, it will inform your brain that your body has a lot of fat.

Indeed, they found that the AN-derived neurons had a greater number of tachykinin receptors on them than the healthy control neurons. This means they can receive more information from this neurotransmitter system than a normal neuron would, Muotri explains. We think this is at least partially one of the mechanisms that explains why [those with anorexia] have the wrong sensation that they have enough fat.

In addition, among the misregulated genes, connective tissue growth factor (CTGF), which is crucial for normal ovarian follicle development and ovulation, was decreased in the AN samples. They speculate that this result may explain why many female anorexia patients stop menstruating.

Muotrinext wants to understand what he calls the downstream effect of those neurons with too many TACR1 receptors. In other words, how does it affect the neurons at a molecular level, and what information do those neurons receive from the gut? This link between the brain and the gut is unclear, so we want to follow up on that, he says.

He also wants to look into thepotential to design a drug that could compensate for the large amount of TACR1 receptors, and the over-regulation of that receptor in the brainwhich would be a huge development for the notoriously difficult-to-treat disease.

While Muotri is excited about new avenues of research that can follow from this work, he doesn't see it as a panacea for the disease, but a way to begin to understand it more fully. He says, Its a good start, but arguably you have to understand what are the other environmental factors that contribute.

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Scientists Say They've Identified a Gene Linked to Anorexia - Mental Floss

OMAHA, Neb. (WOWT) -- This week, researchers unveiled encouraging news in the fight against cancer as the FDA fast-tracked a specific type of gene therapy. Nebraska Medicine is one of only a handful of cancer in the country participating in a clinical cancer for non-Hodgkins lymphoma.

Amy Cheese, a 3rd grade teacher from Colorado stepped away from the classroom last year hoping to find a treatment that would save her life. She had run out of treatment options for her cancer in the blood.

Nothing was shrinking the grapefruit-sized tumor in her chest.

So she came to Omaha where her CAR t-cells would get a science make-over.

It works like this: we all have t-cells to fight infection. But in a cancer patient, they go haywire.

Her cells are sent from Omaha to a California lab to be re-engineered, and returned two weeks later to pinpoint the cancer and destroy it.

We were there in January when Dr. Julie Vose in Oncology revealed whether the therapy was working for Amy.

Dr. Vose: Continuing improvement. Its now 2.7 and that means complete remission. Amy: Oh really. Wow. I have to hug Susan. Susan: Its awesome. Amy: I didnt think it was ever going to happen. Thats what everybody wants to hear. Complete remission.

Successful cases like Amy Cheeses has the FDA expanding the reach of the clinical trials.

About 60% of the patients had a complete remission, said Dr. Vose in an interview with WOWT 6 News this week. Meaning that at the end of the therapy theres no sign of the lymphoma. 3-months after that there was 40% of the patients in complete remission, which may not seem like a lot but these are patients who had failed every other therapy they could possible fail.

Amy Cheese recently had her 6-month check-up. She remains in complete remission.

Doctors believe this breakthrough cancer therapy could one day apply to all cancers. As a big picture, said Dr. Vose, I think it has huge and incredible potential.

With the FDA fast-tracking this method, doctors say more patients will now be a part of a larger clinical trial.

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FDA fast-tracks Nebraska Medicine clinical trial - WOWT

April 7, 2017 Susan Ross with her partner Paul Appleby. Credit: Newcastle University

Cancer patients in America are now receiving a life-extending drug developed by scientists at Newcastle University.

Women with recurrent ovarian cancer have access to the pioneering treatment, Rubraca, following approval of the drug in the USA by the Food and Drug Administration (FDA).

First discovered approximately 20 years ago, and arising from research initiated at Newcastle University by Cancer Research UK-funded scientists, Rubraca has been approved for ovarian cancer patients with a faulty BRCA gene.

Studies have shown that the oral medication has a high success rate as 54% of women on clinical trials had complete or partial shrinkage of their tumour for an average of 9.2 months.

It is hoped that Rubraca will get approval by the European Medicines Agency within the next year. If then approved by the National Institute for Health and Care Excellence and the Scottish Medicines Consortium, it would allow ovarian cancer patients in the UK with a BRCA gene mutation to access the new treatment.

Dr Yvette Drew, Senior Lecturer at Newcastle University and Honorary Consultant in Medical Oncology at Newcastle upon Tyne Hospitals NHS Foundation Trust, has led the clinical development of Rubraca in the North East.

She said: "It is fantastic that patients are now receiving Rubraca and we are hopeful that women in Britain will also have the opportunity to access this ground-breaking treatment in the future.

"Rubraca is a well-tolerated oral drug, allowing women to have a better quality of life for longer without debilitating side-effects that are often seen with chemotherapy.

"The approval of this medication is a great achievement for the Newcastle University team and is an example of what can be achieved when scientists and oncologists work together to target a specific type of cancer at the molecular level."

Rubraca, also known as rucaparib, is a class of drug called a PARP inhibitor which exploits a defect in the cancer cell's ability to repair normal wear and tear to its DNA to kill the tumour cells without unduly harming healthy cells.

The FDA has approved the use of Rubraca for women with ovarian cancer who have been treated with two or more chemotherapies and whose tumours have a BRCA mutation.

Each year, around 7,000 women are diagnosed with ovarian cancer across the UK and one in 50 women will develop ovarian cancer at some point in their life.

Around 15% to 20% of women with ovarian cancer will have a BRCA gene mutation, putting them at increased risk of developing other cancers and a 50% risk of passing the faulty gene to their children.

Ruth Plummer, Clinical Professor of Experimental Medicine at the Northern Institute for Cancer Research, Newcastle University, was the first clinician to prescribe Rubraca.

Professor Plummer, Consultant Medical Oncologist at Newcastle upon Tyne Hospitals NHS Foundation Trust, said: "The licensing of Rubraca by the FDA is very exciting and the culmination of many years of work by cancer researchers in Newcastle.

"We have been seeing patients benefit clinically from PARP inhibitors in clinical trials for a number of years and it is fantastic that this drug will now become more widely available."

Newcastle University researchers - Professors Hilary Calvert, Nicola Curtin, Barbara Durkacz, Bernard Golding, Roger Griffin, Herbie Newell and Ruth Plummer - were part of a multi-disciplinary team that discovered and developed Rubraca.

Emma Greenwood, Cancer Research UK's director of policy, said: "We're delighted that Rubraca has been licensed for use by the FDA, particularly when Cancer Research UK-funded scientists working at Newcastle University discovered and developed the drug in the early 1990s in collaboration with industry partners.

"The drugone of an exciting group of drugs that exploit the weaknesses cancer cells have in repairing damaged DNAwill offer new hope to women with advanced ovarian cancer.

"We hope it could one day treat other cancer types and clinical trials are underway to discover its potential."

Patient's story

Susan Ross has been on Rubraca under Dr Drew's care at the Freeman Hospital's Northern Centre for Cancer Care in Newcastle for more than a year and is living life to the full.

The 59-year-old, of Whitley Bay, was diagnosed with ovarian cancer with a BRCA gene mutation 10 years ago and says she feels great after being given the drug as part of a clinical trial.

Susan has been on Rubraca since December 2015 when her ovarian cancer returned and was not operable. Her tumour has shrunk completely and she continues to receive the treatment as part of a clinical trial.

She said: "I feel the best I've felt since before my ovarian cancer diagnosis in 2007. I have my life back and I've been to far afield countries like Australia and Japan.

"I'm so lucky to have been given Rubraca as part of a clinical trial and it is great patients in America are able to access this treatment - I hope patients in the UK will also have this opportunity in the future.

"The team at Newcastle University should be very proud of what they have achieved as Rubraca is offering hope to ovarian cancer patients with the BRCA gene mutation that they can live their life well.

"Since I have been on Rubraca I've felt well enough to get a part-time job and I'm also considering taking up golf.

"I would like to thank all those who have been involved in Rubraca's development and to the clinical team who have looked after me so well."

Susan underwent four operations and three rounds of chemotherapy before being enrolled on the clinical trial. She continues to be closely monitored with regular CT scans.

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